1. Brain Dev. 1996 May-Jun;18(3):192-6.
Classification of epilepsies and epileptic syndromes in a child neurology unit.
Aydinli N(1), Calişkan M, Ozmen M, Apak S.
(1)Department of Pediatrics, Faculty of Medicine, Istanbul University, Capa, Turkey.
We attempted to classify, according to the 1989 International Classification of Epilepsies and Epileptic Syndromes, 1076 patients examined during a 4-year period (1 January 1988 to 31 December 1991) in the Child Neurology Unit. We aimed to determine the proportion of the clearly defined epileptic syndromes or the non-specific categories of the International Classification of Epilepsies and Epileptic Syndromes, to estimate the relative incidence of different categories and to review the criteria for defining epileptic syndromes. The proportion in categories as defined by the International Classification of Epilepsies and Epileptic Syndromes in our patients was as follows. Localization-related epilepsies and syndromes: idiopathic 3.15%, symptomatic 17%, cryptogenic 9.20%. Generalized epilepsies and syndromes: idiopathic 20.35%, cryptogenic or symptomatic 14.68%, symptomatic 11.5%. Epilepsies and syndromes undetermined whether focal or generalized: with both generalized and focal seizures 7.8%, without unequivocal focal or generalized features 1.68%. Special syndromes: situation-related seizures: febrile convulsions 12.83%, isolated seizures or isolated status epilepticus 1.02%, seizures due to an acute toxic or metabolic event 1.20%. The presence of non-specific categories in the International Classification of Epilepsies and Epileptic Syndromes enables the categorization of all patients but it gives the false impression of diagnostic precision to what are essentially uncertain cases.
PMID: 8836499 [Indexed for MEDLINE]
2. Pediatr Neurol. 1998 Mar;18(3):256-61.
Acute childhood hemiplegia associated with chickenpox.
Yilmaz K(1), Calişkan M, Akdeniz C, Aydinli N, Karaböcüoğlu M, Uzel N.
(1)Department of Pediatrics, Istanbul Faculty of Medicine, Istanbul University, Child Health Institute, Turkey.
Although primary varicella-associated central nervous system complications and herpes zoster ophthalmicus with delayed hemiplegia are well known, and chickenpox is a common infection, cerebral vasculopathy associated with chickenpox has only been described recently. We report the case of an 18-month-old girl who developed a right hemiplegia 10 days after the onset of a primary varicella infection. She has the shortest latent interval in the literature. Cranial computed tomography and magnetic resonance imaging suggest an infarction involving the left putamen and internal capsule. Magnetic resonance angiography is normal. Possible causes of acute infantile hemiplegia are excluded. Neurologic signs gradually improve without any specific treatment. A review of the literature is also presented.
PMID: 9568925 [Indexed for MEDLINE]
3. Pediatr Neurol. 1998 Sep;19(3):211-6.
Neuroradiologic aspects of West syndrome.
Aydinli N(1), Calişkan M, Ozmen M, Tonguç E.
(1)Department of Pediatrics, Istanbul University, and Medical Faculty of Istanbul, Turkey.
Cranial computed tomography (CT) or magnetic resonance imaging (MRI), or both, of 143 patients with West syndrome were retrospectively reviewed. Twenty-four children had normal CT scans. The most striking findings on pathologic scans were cerebral atrophy, ventricular enlargement, and encephalomalacia. Of 78 children who underwent MRI, 14 had normal scans. Cerebral malformations, cerebral atrophy, and delayed myelination were the most common pathologic findings and were observed in 25, 20, and 16 of the cases, respectively. MRI was found to be more informative in 21 of the 27 patients who underwent both neuroimaging methods. In fact, in two patients with normal CT scans, MRI revealed delayed myelination and hyperintensity of the hippocampal area on T2-weighted images in one and increased intensity of basal ganglia on T1-weighted images in the other. On the basis of all data, four patients were classified as cryptogenic and 126 as symptomatic.The most frequent etiologic factors were perinatal asphyxia, cerebral malformations, and infections, encountered in 34, 25, and 24 of the children, respectively. Twenty-one cases could be classified solely on the basis of the data obtained with neuroimaging modalities. The data confirm and provide additional details of the ways in which neuroimaging, especially MRI, is useful in distinguishing between cryptogenic and symptomatic cases of West syndrome.
PMID: 9806139 [Indexed for MEDLINE]
4. Turk J Pediatr. 1998 Oct-Dec;40(4):549-57.
Use of localized proton nuclear magnetic resonance spectroscopy in Canavan's disease.
Aydinli N(1), Calişkan M, Calay M, Ozmen M.
(1)Department of Pediatrics, Istanbul University Faculty of Medicine, Capa, Istanbul, Turkey.
Canavan's disease is characterized by megalencephaly, leukodystrophy and early motor and mental retardation. On computerized tomography and magnetic resonance imaging, severe changes compatible with white matter disease due to demyelination is observed. It has been demonstrated that urinary N-acetylaspartate levels are increased because of a deficiency of aspartoacylase (N-acyl-L-aspartate aminohydrolase) in these patients. In this study, with the use of proton nuclear magnetic resonance spectroscopy, we were able to demonstrate elevated levels of N-acetylaspartate compared to choline and creatine in the frontal region white matter of three patients. The in vivo measurement of N-acetylaspartate, choline and creatine in the brain by magnetic resonance spectroscopy offers an additional noninvasive diagnostic test for establishing the diagnosis of Canavan's disease.
PMID: 10028864 [Indexed for MEDLINE]
5. Pediatr Neurol. 1999 Oct;21(4):705-10.
Clinical assessment, MRI, and EMG in congenital brachial plexus palsy.
Yilmaz K(1), Calişkan M, Oge E, Aydinli N, Tunaci M, Ozmen M.
(1)Department of Pediatrics, Istanbul University, Medical Faculty of Istanbul, Turkey.
Thirteen infants with congenital brachial plexus palsy (eight with upper, five with upper and lower) were monitored by magnetic resonance imaging (the first performed between 7 and 41 days of age and the second at 3 months of age), electromyography (the first performed between 27 and 50 days and the second at 3 months), and the muscle scoring system of the Hospital for Sick Children (at 3, 6, and 9 months of age). The findings were evaluated with respect to the clinical status of the patients at 12 months of age. Magnetic resonance imaging, which could be performed readily even in the neonatal period, revealed pseudomeningoceles in two of the five patients with a poor prognosis (in all planes even in the early days after birth) and in two of the eight patients with a good prognosis (more easily visible at 3 months of age). Electromyography implied root avulsion in three of five patients with a poor prognosis. Electromyography can be of great value for patients with a poor prognosis and root avulsion but may underestimate the severity. The muscle scoring system (Hospital for Sick Children) was determined to be the most predictive method for prognosis.
PMID: 10580882 [Indexed for MEDLINE]
6. Eur J Paediatr Neurol. 1998;2(4):199-203.
Vitamin K deficiency--late onset intracranial haemorrhage.
Aydinli N(1), Citak A, Calişkan M, Karaböcüoglu M, Baysal S, Ozmen M.
(1)Department of Paediatrics, Institute of Child Health, Istanbul University Turkey.
A retrospective study is presented of the clinical features and outcome of late onset haemorrhagic disease due to vitamin K deficiency in 11 babies who were admitted to the emergency or child neurology unit during a 4-year period (January 1994-December 1997). The disease occurred in infants between 30 and 119 days of age (mean: 56+/-24 days). None of them received vitamin K after birth and all were breastfed. The presenting complaints were seizures (91%), drowsiness (82%), poor sucking (64%), vomiting (46%), fever (46%), pallor (46%), acute diarrhea (27%), irritability and high-pitched cry (18%). On examination, tense or bulging fontanelle (73%), anisocoria (36%), weak neonatal reflexes (18%), cyanoses (18%) were the most frequent findings. The localizations of the intracranial haemorrhage were as follows: intracerebral (91%), subarachnoid (46%), subdural (27%), and intraventricular (27%). No fatality was observed. However, after a follow-up period ranging from 6 to 48 months (mean: 21+/-13 months), only three (27%) infants remained neurologically normal. Seizure disorders (73%), severe psychomotor retardation (46%), cerebral palsy (46%) and microcephaly (46%) were observed in the remainder. Hydrocephalus developed in three (27%) babies but none of them required shunt replacement. The value is emphasized of vitamin K prophylaxis in the newborn to reduce the incidence of late onset intracranial haemorrhage and handicap in children.
PMID: 10726592 [Indexed for MEDLINE]
7. Turk J Pediatr. 1999 Jan-Mar;41(1):121-5.
Late infantile acid maltase deficiency: a case report.
Calişkan M(1), Yilmaz Y, Serdaroğlu P, Aydinli N, Ozmen M.
(1)Department of Pediatrics, Istanbul University Istanbul Faculty of Medicine.
A five-year-old boy with late-infantile (juvenile) form of acid maltase deficiency is presented. His symptoms were restricted to skeletal muscle. There is commonly a correlation between the amount of residual acid maltase activity and the severity of the clinical picture. Although the residual enzyme level was very low in our patient, no progression of his neurological findings have been observed during the follow-up period of two years.
PMID: 10770687 [Indexed for MEDLINE]
8. Pediatr Neurol. 2000 Apr;22(4):292-7.
99Tc-HmPAO SPECT in 13 patients with classic lissencephaly.
Yilmaz Y(1), Ozmen M, Adalet I, Calişkan M, Unal S, Aydinli N, Minareci O.
(1)Department of Pediatrics, Division of Pediatric Neurology Istanbul University, Istanbul Medical Faculty, Turkey.
In this study, technetium-99 ((99)Tc)-hexamethylpropyleneamine-oxine single-photon emission computed tomography (SPECT) was performed on 13 children with classic lissencephaly (nine with epileptic seizures, four without seizures). Focal or multifocal hypoperfusions were observed in 12 patients. The hypoperfused areas observed on SPECT scanning did not correlate with the localization of agyric-pachygyric regions in all patients. The distribution of perfusion abnormalities by SPECT and the localization of agyria-pachygyria as detected by magnetic resonance imaging did not correlate strongly. All nine patients with seizures and three of the four patients without seizures had focal or multifocal cerebral blood flow abnormalities on the SPECT scans. The presence of brain perfusion abnormalities detected by SPECT and the occurrence of epileptic seizures did not have a significant relationship. These results suggest that the role of SPECT studies in classic lissencephaly is not clearly defined. More sophisticated methods are needed to clarify the correlation between structural and functional abnormalities of patients diagnosed with lissencephaly.
PMID: 10788746 [Indexed for MEDLINE]
9. Turk J Pediatr. 2000 Jul-Sep;42(3):210-4.
Clinical features of 21 patients with lissencephaly type I (agyria-pachygyria).
Ozmen M(1), Yilmaz Y, Calişkan M, Minareci O, Aydinli N.
(1)Department of Pediatrics, Istanbul University Istanbul Faculty of Medicine, Turkey.
Lissencephaly (agyria-pachygyria) is the most severe neuronal migration disorder, characterized by total or partial absence of gyri. In this study, 21 patients with lissencephaly type I (9 girls, 12 boys) with a mean age of 19 +/- 21 months (2 weeks-8 years) were evaluated clinically and graded according to neuroradiological findings (19 patients by magnetic resonance imaging MRI and 2 by computed tomography CT). Three patients were classified as lissencephaly grade 2 and 18 patients as grade 3 or 4. Clinically, 12 patients (57%) had microcephaly, and eight (38%) had facial dysmorphism. All the patients had prominent psychomotor retardation, moderate to severe; the most frequent neurological findings were spastic guadriplegia (36.4%) and hypotonia with exaggerated tendon reflexes (27.3%). Seventy-eight percent of the patients had epileptic seizures resistant to conventional treatment. Lissencephaly is a cerebral cortical malformation that should be considered in children with developmental delay with or without microcephaly and facial dysmorphism. In addition, it should be investigated in the etiology of early-onset childhood epilepsy.
PMID: 11105619 [Indexed for MEDLINE]
10. Turk J Pediatr. 2002 Apr-Jun;44(2):98-101.
Clinical features of tuberous sclerosis cases.
Söğüt A(1), Ozmen M, Sencer S, Calişkan M, Aydinli N, Ertuğrul T, Peksayar G.
(1)Department of Pediatrics, Istanbul University Istanbul Faculty of Medicine, Capa-Istanbul, Turkey.
Tuberous sclerosis (TS) is an autosomal dominant, multisystemic and neurocutaneous disease with high spontaneous mutation rate, and it mostly involves the skin, brain, kidneys, heart and the eyes. This study included 35 patients diagnosed with tuberous sclerosis and aged 6 months to 17 years, with a mean age of 6.5+/-4.8 years. The most frequently observed manifestations were those of the skin (97.1%) and of the central nervous system (seizures 94.2%, mental retardation 51.4%), followed by renal (32.2%), cardiac (25.8%) and ocular (22.5%) manifestations. Among cutaneous manifestations, hypomelanotic macules (94.3%), facial angiofibromas (40%), shagreen spots (20%), fibrous plaques on the forehead (5.7%) and ungula fibromas (5.7%) were observed. Tonic seizures (37.1%) and infantile spasms (21.2%) accounted for majority of seizures. Neurophysiological development was normal in 25.6% of cases, retarded in 51.4% and borderline in 23%. Thirty-four patients had typical pathological findings on magnetic resonance imaging (MRI). In conclusion, the earliest and most frequent complaint is seizure in cases with TS. Careful investigation for hypomelanotic macules and other skin manifestations typical for TS in cases presenting with convulsion makes early diagnosis possible and obviates unnecessary investigations.
PMID: 12026215 [Indexed for MEDLINE]
11. Brain Dev. 2003 Jan;25(1):22-4.
Muscle ultrasonography and electromyography correlation for evaluation of floppy infants.
Aydinli N(1), Baslo B, Calişkan M, Ertaş M, Ozmen M.
(1)Division of Paediatric Neurology, Department of Paediatrics, Istanbul University Istanbul Medical Faculty, Capa 34390, Istanbul, Turkey.
Floppiness in an infant may have a number of different etiologies from disorders of the brain to spinal cord lesions, neuropathies, neuromuscular junction disorders and myopathies. In this study we aimed to investigate the correlation of muscle ultrasonography (US) and electromyography (EMG) in the diagnosis of floppy infants. The study encompassed 41 floppy infants aged 2-24 months. The muscle US and EMG examinations were performed without awareness of the clinical diagnosis. The final diagnosis was established by molecular genetic tests or muscle/nerve biopsy. The neurogenic group consisted of 16 infants according to their US and EMG findings. Fifteen of them had spinal muscular atrophy proven by genetic analysis and one had polyneuropathy diagnosed by nerve biopsy. Six infants were in the myopathic group according to their muscle US and EMG results. All of them underwent muscle biopsy and microscopic examination revealed five congenital muscular dystrophy and one glycogen storage disease. In two infants the US and EMG data conflicted. Their biopsies were also insufficient for the diagnosis. Seventeen infants had normal US and EMG findings but pathologic cranial magnetic resonance imaging or metabolic/genetic tests. They were considered in the group of central hypotonia. Our results suggest a high concordance of US and EMG findings in the diagnostic work-up of neurogenic and myopathic disorders.
PMID: 12536029 [Indexed for MEDLINE]
12. Pediatr Neurol. 2004 Apr;30(4):284-6.
Neuroblastoma: an unusual presentation with bilateral ptosis.
Tatli B(1), Saribeyoğlu ET, Aydinli N, Calişkan M, Anak S.
(1)Department of Pediatrics, Istanbul, Turkey.
Neuroblastoma, a common tumor of neural crest origin, demonstrates an extremely variable clinical presentation and behavior. Paraspinal tumors may occur anywhere along the spinal column where they may invade the intervertebral foramina and produce cord compression. Cervical involvement may produce Horner's syndrome. Opsoclonus-myoclonus syndrome is also a well-known neuroimmunologic finding of neuroblastoma. We report a 28-month-old female presenting with ptosis and muscle weakness, diagnosed as having a neuroblastoma.
PMID: 15087109 [Indexed for MEDLINE]
13. J Trop Pediatr. 2005 Oct;51(5):310-3. Epub 2005 Jun 20.
Etiologic evaluation in 247 children with global developmental delay at Istanbul, Turkey.
Ozmen M(1), Tatli B, Aydinli N, Calişkan M, Demirkol M, Kayserili H.
(1)Department of Pediatrics, Istanbul Faculty of Medicine, Istanbul University, Turkey.
OBJECTIVE: Developmental delay is a common pediatric problem, having a greatnumber of underlying causal factors. Etiologic diagnosis is important for providing information about pathogenesis, prognosis, recurrence risk and specific medical interventions. The aim of this study was to determine the etiologic yield and spectrum of a consecutive cohort of global developmentally delayed children.
METHODS: This retrospective study included all children younger than 5 years of age with global developmental delay referred to a single university-based ambulatory pediatric neurology clinic for initial evaluation over a 14-month period from January 1997. Diagnostic studies consisted of history, physical examination, electroencephalography and selected investigations including neuroimaging, screening for metabolic disease, karyotype and fragile X testing.
RESULTS: In the study 247 patients (136 males) with a mean age of 24.2+/-20.3 months were evaluated. Etiologic diagnosis was determined in 64 per cent of the patients classified under the following categories: perinatal complications (21 per cent), cerebral dysgenesis (18 per cent), chromosomal abnormalities (9 per cent), genetic/dysmorphic syndromes (3 per cent), metabolic disorders (4 per cent), hypothyroidism (4 per cent), neurocutaneous syndromes (3 per cent), intrauterine infection (2 per cent). Etiology was unknown in 36 per cent of the patients. Two laboratory tests (neuroimaging and cytogenetic analysis) together with the history and physical examination were most helpful in determining the etiologic diagnosis.
CONCLUSION: This study suggests that optimal management of global developmentally delayed children and their family should involve a comprehensive evaluation.
PMID: 15967773 [Indexed for MEDLINE]
14. J Child Neurol. 2005 Jun;20(6):525-7.
Not a new leukodystrophy but congenital cytomegalovirus infection.
Tatli B(1), Ozmen M, Aydinli N, Caliskan M.
(1)Division of Child Neurology, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
We report a 16-month-old girl who presented with global developmental delay and hearing loss. Cranial magnetic resonance imaging demonstrated a pattern that could be interpreted as a "new leukoencephalopathy." Etiologic investigations revealed a positive polymerase chain reaction for cytomegalovirus DNA using her stored Guthrie card, indicating a congenital cytomegalovirus infection.
PMID: 15996404 [Indexed for MEDLINE]
15. J Infect. 2006 Apr;52(4):e120-3. Epub 2005 Sep 28.
Neuro-Behçet syndrome presenting as acute meningeal syndrome.
Kara B(1), Somer A, Pişkin S, Aydinli N, Salman N, Yalçin I.
(1)Pediatrics, Kocaeli University Medicine Faculty, Kocaeli, Turkey.
Behçet's disease is a systemic vasculitic disease characterized mainly by recurrent oral and genital aphthous ulcers, uveitis and skin findings. Central nervous system involvement is a serious manifestation. A case of acute meningeal syndrome secondary to Behçet's disease is presented. Behçet's disease should always be considered in differential diagnosis of acute meningeal syndrome without signs of viral infection, particularly in the context of multisystem manifestations.
PMID: 16197999 [Indexed for MEDLINE]
16. Turk J Pediatr. 2005 Oct-Dec;47(4):359-63.
Symptomatic and asymptomatic hypohidrosis in children under topiramate treatment.
Yilmaz K(1), Tatli B(2), Yaramiş A(2), Aydinli N(2), Calişkan M(2), Ozmen M(2).
(1)Department of Pediatrics, Gaziantep University Faculty of Medicine, Gaziantep, Turkey.
(2)Department of Pediatrics, Division of Pediatric Neurology, Istanbul Medical Faculty, Istanbul University, Turkey.
Topiramate (TPM) has peculiar side effects such as speech difficulties, weight loss, oligohidrosis and hyperthermia. We present the frequency and severity of hypohidrosis in our patients under TPM treatment. One hundred and two patients treated with TPM were evaluated retrospectively. Five (8 months-15 years of age) of them experienced symptomatic hypohidrosis manifested with prolonged or intermittent fever. Pilocarpine iontophoresis sweat test had been performed on the five patients before they were managed, and no sweat had been collected in 4/5 cases. Of the 102 patients, 42 who started TPM treatment when the study was established were evaluated prospectively regarding oligohidrosis. First, they were questioned about whether hypohidrosis occurred after TPM. Of 42, 11 patients complained of hypohidrosis. A sweat test was then performed on these 11 patients. Sweat could not be obtained in 5/11, and increased chloride concentration was found in 4/11. However, sweat could be obtained in the patients who had no complaint of hypohidrosis. Pediatricians should be aware of this side effect of TPM to prevent nonrelevant and cumbersome investigations in patients with prolonged or intermittent fever onset during TPM treatment. Our findings suggest that 5% of patients would experience hyperthermia during TPM treatment. Hypohidrosis without hyperthermia would be more frequent. If it is possible to collect sweat in patients who get fever during TPM treatment, it would be highly probable that the fever is not due to hypohidrosis. Increased chloride concentration alone does not seem to be significant for the hyperthermia risk.
PMID: 16363346 [Indexed for MEDLINE]
17. Pediatr Neurol. 2006 Jan;34(1):41-4.
Congenital muscular torticollis: evaluation and classification.
Tatli B(1), Aydinli N, Caliskan M, Ozmen M, Bilir F, Acar G.
(1)Department of Pediatrics, Division of Pediatric Neurology, Istanbul Medical Faculty, Istanbul University, Turkey.
In this investigation of congenital muscular torticollis, 311 infants treated consecutively for congenital torticollis over an 8-year period (1995-2003) at the Pediatric Neurology Clinic of Istanbul Medical Faculty, Istanbul University, Turkey were reviewed retrospectively. The clinical presentation, associated abnormalities, treatment, and outcomes of the overall group and of subgroups divided according to an ultrasonography-based classification were evaluated. All patients were evaluated using a standard approach: cervical ultrasonography was performed, and the patients were divided into two subgroups. Each group was scanned for other anomalies, and outcomes were compared. The mean age at diagnosis was 2.3 months; patients included in this study were 138 males and 173 females. Two clinical subgroups, comprised of sternomastoid tumors 85% and postural torticollis 15%, were identified. Passive range of motion was the initial treatment recommended for all of the patients. Follow-up data were available for all 311 patients; 95% experienced total resolution and 5% experienced subtotal resolution. We conclude that the majority of children with congenital muscular torticollis experience total resolution of symptoms. The success rate of conservative treatment is primarily dependent on the patients' age at the initiation of exercises and ultrasonographic findings.
PMID: 16376277 [Indexed for MEDLINE]
18. J Trop Pediatr. 2006 Jun;52(3):158-62. Epub 2006 Apr 24.
Stroke in childhood: experience in Istanbul, Turkey.
Aydinli N(1), Tatli B, Calişkan M, Ozmen M, Citak A, Unuvar A, Baykal T, Omeroglu RE, Aydin K, Sencer S, Sencer A, Kiriş T.
(1)Division of Pediatric Neurology, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
Our objective was to characterize the etiologic factors and outcome for stroke in children. We retrospectively reviewed the charts of patients between the ages of 0 days and 94 months (36.5 +/- 23.7 months) with stroke seen at Istanbul Medical Faculty, Department of Pediatrics between January 1995 and December 2003. We found 79 cases of stroke: 57 ischemic and 22 hemorrhagic strokes. Seventeen children had vitamin K deficiency dependent hemorrhage. In 14 children stroke occurred as a complication of cardiac disease, 7 had moyamoya disease, 3 had protein C deficiency, 2 had thalassemia, 2 had hyperhomocysteinemia (methylene tetrahydrofolate reductase gene mutation), 2 were heterozygote for factor V Leiden, 3 had Down's syndrome, 1 was diagnosed with antiphospholipid syndrome, 1 had glycogen storage disease, and in 28 children no underlying cause could be found. Multiple risk factors were found in 4 children. The outcome in all 79 stroke patients was as follows: asymptomatic 60%; symptomatic epilepsy or persistent neurologic deficit 37%; death 3%; and recurrent stroke 5%. Thus, an underlying cause for stroke was identified in 65% of the children in the study group; 40% of the children either died or suffered motor and/or cognitive sequelae.
PMID: 16636011 [Indexed for MEDLINE]
19. Neurology. 2006 Sep 12;67(5):911-3.
Quantification of neurometabolites in subacute sclerosing panencephalitis by 1H-MRS.
Aydin K(1), Tatli B, Ozkan M, Ciftci K, Unal Z, Sani S, Ozmen M, Caliskan M, Aydinli N, Guven S.
(1)Department of Neuroradiology, Istanbul Medical School, Istanbul University, Turkey.
Comment in Neurology. 2007 Apr 24;68(17):1438; author reply 1438.
The authors studied 20 patients with subacute sclerosing panencephalitis (SSPE) to investigate the correlations between MRI, magnetic resonance spectroscopy (MRS), and clinical status. MRI findings did not correlate with clinical status. By contrast, all patients had reductions in N-acetyl aspartate (NAA) and increase in myoinositol (mI) (p < 0.01), and NAA and mI concentrations correlated with clinical severity (p < 0.05). During follow-up, NAA continued to decline. (1)H-MRS may be a useful measure of disease severity and progression in SSPE.
PMID: 16966569 [Indexed for MEDLINE]
20. Pediatr Int. 2008 Feb;50(1):35-9. doi: 10.1111/j.1442-200X.2007.02510.x.
Lidocaine treatment in pediatric convulsive status epilepticus.
Yildiz B(1), Citak A (2), Uçsel R(2), Karaböcüoğlu M(2), Aydinli N(2), Uzel N(2).
(1)Department of Pediatrics, Faculty of Medicine, Eskisehir Osmangazi University,Eskişehir, Turkey.
(2)Department of Pediatric Neurology, Istanbul Medical Faculty, Fatih, Istanbul, Turkey.
BACKGROUND: Convulsive status epilepticus (CSE) may end fatally or leave serious sequelae. CSE treatment, invariably an emergency case, is based upon I.V. benzodiazepines as well as phenytoin, barbiturates or both. The present paper reports efficiency of lidocaine in CSE.
METHODS: The effects of lidocaine on patients with CSE due to infectious and non-infectious reasons were compared. Lidocaine was given in 29 episodes of CSE to 49 patients having failed to respond to first-line anticonvulsive drugs, such as diazepam, phenobarbital and phenytoin therapy. Lidocaine was given in doses of 2 mg/kg bolus i.v., and then in 4 mg/kg per h infusion.
RESULTS: Mean duration of lidocaine infusion was 14.6 +/- 7.8 h. Effectiveness of lidocaine in patients with CSE was found to be 44.4%. Also, 11 patients responded to a single dose of lidocaine (37.9%), while another two (6.9%) required another dose to suppress their seizures. Patients with seizures attributable to infections were observed to have responded favorably to lidocaine when compared to those with seizures due to epilepsy (37.9% vs 6.8%; P < 0.05). Subsequent epilepsy was found to occur more frequently in patients with a poor response to lidocaine than in patients with a good response (P < 0.05). Adverse reactions to lidocaine were observed in three patients (10.3%), two of them having ventricular arrhythmia. As for the other patient, the focal seizure developed into a generalized one. CONCLUSIONS: Lidocaine seems to be useful for the management of CSE as a rapid-acting anticonvulsant, particularly in patients with CSE due to infections. But further studies with larger number of patients are needed.
PMID: 18279202 [Indexed for MEDLINE]
21. J Paediatr Child Health. 2011 Oct;47(10):734-6. doi:
10.1111/j.1440-1754.2011.02042.x. Epub 2011 Mar 30.
Clinical features of nine patients with alternating hemiplegia of childhood.
Tatlı B, Aydınlı N, Calışkan M, Ozmen M, Kara B, Yaramış A, Dilber C, Yılmaz, K, Küçükuğurluoğlu Y, Ekici B.
Department of Pediatric Neurology, Istanbul Medical Faculty, Fatih, Istanbul, Turkey.
AIM: To define clinical features of patients with alternating hemiplegia of childhood.
METHODS: We retrospectively reviewed the clinical presentation and course of the disease in patients diagnosed between January 2003 and December 2008 at the Pediatric Neurology Department of the Istanbul Medical Faculty.
RESULTS: The nine patients had a mean age of 6.6 months (2-15 months) at the onset of symptoms. Paroxysmal eye movements were the early symptom of five patients. All patients had recurrent alternating hemiplegic episodes and relief of symptoms while sleeping. Duration of events varied widely from few minutes to several days and was associated with slowly progressive neurological deterioration. Flunarizine might decrease frequency of events but is not effective to neurological deterioration. Amantadine as an alternative agent is used in add-on therapy, but epileptogenic side effect prevented the evaluation of long-term efficacy.
CONCLUSION: Trials on new agents like amantadine are necessary for more effective control of the disease.
© 2011 The Authors. Journal of Paediatrics and Child Health © 2011 Paediatrics and Child Health Division (Royal Australasian College of Physicians).
PMID: 21449903 [Indexed for MEDLINE]
22. Acta Neurol Belg. 2011 Jun;111(2):168-9.
Subthalamic nuclei involvement in Leigh disease with cytochrome c oxidase deficiency.
Ekici B(1), Aydinli N.
(1)Istanbul Medical Faculty Pediatric Neurology, Sehremeni/Fatih, Istanbul,
PMID: 21748946 [Indexed for MEDLINE]
23. Int J Neurosci. 2012 Feb;122(2):69-73. doi: 10.3109/00207454.2011.627486. Epub 2011 Nov 3.
Thyroid hormones in children on antiepileptic therapy.
Aygün F, Ekici B, Aydinli N, Aydin BK, Baş F, Tatli B.
Pediatrics Unit, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
The aim of this study was to evaluate the thyroid function alterations in a group of epileptic children taking antiepileptic drugs (AEDs). Patients demographic data and the free throxine (fT4) and thyroid-stimulating hormone (TSH) levels at the beginning of the treatment and at the third, sixth and ninth months of AED treatment were recorded retrospectively. A total of 106 children, 59 males and 47 females, were enrolled in the study. Mean patient age was 3.7 years, ranging between 3 months and 14 years. In total, 54% of patients were on valproic acid (VPA), 16% phenobarbital (PB), 14% were on carbamazepine (CBZ), 6% were on oxcarbazepine (OXC), 5% were on levetiracetam, and 5% were on topiramate therapy. There were no significant differences in average fT4 values between the drug groups. But the mean fT4 levels of the patients on VPA therapy showed a clear decrease within the observation period. No significant difference in average TSH values between the groups was detected in the beginning and in the third and sixth month. However, in the ninth month, a significant increase in TSH values was found in the VPA group (p = 0.007). In the patients taking VPA, average TSH values rose progressively while staying within normal limits. During follow-up, thyroid dysfunction were found in 21 patients (19.6%). A statistically significant relationship was found between severe electroencephalography (EEG) findings and thyroid dysfunction (p = 0.041). It was concluded that epileptic children with severe EEG findings and using VPA could have thyroid dysfunction. These patients should be followed up closely by thyroid function tests during treatment.
PMID: 21958330 [Indexed for MEDLINE]
24. Eur J Pediatr. 2012 Mar;171(3):549-52. doi: 10.1007/s00431-011-1607-2. Epub 2011 Oct 21.
Demographic characteristics of SMA type 1 patients at a tertiary center in Turkey.
Ekici B, Bozkurt B, Tatlı B, Calışkan M, Aydınlı N, Ozmen M.
Department of Pediatric Neurology, Istanbul Medical Faculty,
The aim of this study was to demonstrate demographics of 39 consecutive Spinal Muscular Atrophy (SMA) type 1 patients diagnosed genetically in a tertiary center between June 2006 and June 2009. There was history of consanguineous marriage in 27 (69%) patients. The average patient lifespan was 251 days (30-726 days). The average patient age at diagnosis was 129 days (33-297 days). A statistically significant correlation was found between the age at diagnosis and the lifespan (p = 0.00). No significant correlation was found between the time spent in intensive care and the lifespan (p = 0.43). Routine physical therapy was found to have no significant impact on the lifespan average (p = 0.17). The cause of death in all of our patients was respiratory issues. Genetic counseling was given to 35 families. A second child with SMA was born in three out of the 14 families who declined prenatal diagnosis.CONCLUSION: A national program is needed in Turkey for SMA prevention and creation of expert teams for the management of these patients.
PMID: 22016262 [Indexed for MEDLINE]
25. Ann Indian Acad Neurol. 2011 Jul;14(3):178-81. doi: 10.4103/0972-2327.85879.
Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients.
Ozmen M(1), Dilber C, Tatlı B, Aydınlı N, Calışkan M, Ekici B.
(1)Department of Pediatric Neurology, Istanbul Medical Faculty, Istanbul.
PURPOSE: Mutations of the α-1 subunit sodium channel gene (SCN1A) cause severe myoclonic epilepsy of infancy (SMEI). To date, over 300 mutations related to SMEI have been described. In the present study, we report new SCN1A mutations and the clinical features of SMEI cases.
MATERIALS AND METHODS: We studied the clinical and genetic features of nine patients diagnosed with SMEI at the Pediatric Neurology Department of Istanbul Medical Faculty.
RESULTS: Five patients had nonsense mutations, two had missense mutations, one had a splice site mutation and one had a deletion mutation of the SCN1A gene. Mutations at c.3705+5G splice site, p.trip153X nonsense mutation and deletion at c.2416_2946 have not been previously described. The seizures started following whole cell pertussis vaccination in all patients. The seizures ceased in one patient and continued in the other eight patients. Developmental regression was severe in three patients, with frequent status epilepticus. The type of mutation was not predictive for the severity of the disease. Two of the three patients with severe regression had nonsense and missense mutations.
CONCLUSIONS: Dravet syndrome can be result of several different types of mutation in SCN1A gene. Onset of the seizures after pertussis vaccination is an important clue for the diagnosis and neuro- developmental delay should be expected in all patients.
26. Acta Neurol Belg. 2011 Dec;111(4):325-7.
Rapidly progressive subacute sclerosing panencephalitis presenting with acute loss of vision.
Ekici B(1), Calişkan M, Tatli B, Aydinli N, Ozmen M.
(1)Istanbul Medical Faculty, Department of Pediatric Neurology, Sehremeni/Fatih, Istanbul, Turkey.
A 10-year-old male presented with vision loss and behavioral changes. He had midpoint pupils with no reaction to light and normal funduscopic examination. Cranial magnetic resonance imaging revealed bilateral cortical lesions at parieto-occipital lobes. Elevated measles antibody titers in the cerebrospinal fluid confirmed the diagnosis of subacute sclerosing panencephalitis. Despite oral inosiplex and supportive care, patient developed generalized seizures with frequent myoclonic jerks and rapidly progressed into coma. Cortical blindness in subacute sclerosing panencephalitis can be an early indicator for fulminant course.
PMID: 22368974 [Indexed for MEDLINE]
27. European Journal of Integrative Medicine 4 (2012) e71–e75
Application of complementary and alternative medicine in epileptic children at a tertiary pediatric neurology center in Turkey
Barıs¸ Ekici a,∗, Burak Tatlı a, Saygın Abalı b, Nur Aydınlı a, Meral Özmen a
a Department of Pediatric Neurology, Istanbul Medical Faculty, Turkey
b Department of Pediatrics, Istanbul Medical Faculty, Turkey
Received 17 August 2011; received in revised form 20 October 2011; accepted 21 October 2011
Aim: The aim of this study was to evaluate the application of complementary and alternative medicine (CAM) in pediatric epilepsy patients.
Methods: The parents of 202 epilepsy patients being followed at the Pediatric Neurology outpatient clinic of the Istanbul Medical Faculty wereinterviewed face-to-face between November 2010 and February 2011. Results: At least one CAM method had been used by 95% of interviewed families. Religious practices were used by 94.1% of families. Nonreligious spiritual practices were used by 9.9% and other alternative treatment methods by 27.7%. Families had started to use CAM at the suggestion of their doctor in 6.9% of the cases. Compared to the medium and high-income group, religious practices (96.8% vs 64.7%, p: 0.000) and regular prayer (92.4% vs 58.8%, p: 0.000) were significantly more prevalent in the low-income group. Regular prayer was more common in families where patients had moderately frequent or frequent seizures, while families of patients with rare seizures more commonly used religious practices other than regular prayer (p: 0.038, 0.027). The number of antiepileptics used and special education were found to correlate with the use of other alternative treatment methods (p: 0.002, 0.000). Families of patients with rare seizures are more inclined to see benefit in CAM (p = 0.043). Conclusion: Religious practices are the most frequently used type of CAM in families with epileptic children. The economic status of the parents and the course of the disease are the main factors that influence the choice between religious, spiritual and other CAM practices and the perception of benefit from them.
© 2011 Elsevier GmbH. All rights reserved.
28. J Clin Neurol. 2012 Jun;8(2):100-3. doi: 10.3988/jcn.2012.8.2.100. Epub 2012 Jun 29.
Clinical features, prothrombotic risk factors, and long-term follow-up of eight pediatric Moyamoya patients.
Tatlı B(1), Ekici B, Sencer A, Sencer S, Aydın K, Aydınlı N, Calışkan M, Ozmen M, Kırış T.
(1)Department of Pediatric Neurology, Istanbul Medical Faculty, Istanbul, Turkey.
BACKGROUND AND PURPOSE: The aim of this study was to elucidate the clinical features, prothrombotic risk factors, and outcome of pediatric Moyamoya patients. METHODS: Patients diagnosed with Moyamoya disease at a tertiary center between
January 2000 and December 2006 were enrolled in this study. The clinical presentations, underlying diseases, prothrombotic risk factors, family history of thrombosis, radiological findings, treatment, and outcome of the patients were reviewed retrospectively.
RESULTS: Eight patients with angiographically proven Moyamoya disease were identified, one of whom had neurofibromatosis type I and one had Down syndrome. The age at diagnosis varied between 19 months and 11 years (73.4±41.8 months, mean±SD). The follow-up period after diagnosis was 52.5±14.8 months. In six patients, the initial clinical presentation was hemiparesis. None of the patients had any identifiable prothrombotic factors. Despite medical and surgical treatment, three patients had recurrences and one died. Only two patients recovered without sequelae.
CONCLUSIONS: The value of prothrombotic risk factor evaluation appears to be limited in Moyamoya patients; the outcome for pediatric patients remains dismal.
29. Pediatr Neurol. 2012 Sep;47(3):186-92. doi: 10.1016/j.pediatrneurol.2012.05.015.
Evaluation of etiologic and prognostic factors in neonatal convulsions.
Yıldız EP(1), Tatlı B, Ekici B, Eraslan E, Aydınlı N, Calışkan M, Ozmen M.
(1)Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
This study evaluated etiologic and risk factors affecting long-term prognoses of neurologic outcomes in newborns with neonatal seizures. We enrolled patients at chronologic ages of 23-44 months, referred to the Department of Pediatric Neurology, Istanbul Medical Faculty, from January 1, 2007-December 31, 2009, after manifesting seizures in their first postnatal 28 days. Of 112 newborns, 41 were female, 71 were male, 33 were preterm, and 79 were full-term. Perinatal asphyxia (28.6%) and intracranial hemorrhage (17%) were the most common causes of neonatal seizures. Cerebral palsy developed in 27.6% of patients during follow-up. The incidence of epilepsy was 35.7%. Almost 50% of patients manifested developmental delay in one or more areas. Global developmental delay was the most common (50.8%) neurologic disorder. The correlation between gestational age or birth weight and adverse outcomes was nonsignificant. Etiology, Apgar score, need for resuscitation at birth, background electroencephalogram, neonatal status epilepticus, cranial imaging findings, type/duration of antiepileptic treatment, and response to acute treatment were all strong prognostic factors in neurologic outcomes. Neonatal seizures pose a threat of neurologic sequelae for preterm and full-term infants. Although the number of recognized etiologic factors in neonatal seizures has increased because of improvements in neonatology and diagnostic methods, perinatal asphyxia remains the most common factor.
Copyright © 2012 Elsevier Inc. All rights reserved.
PMID: 22883283 [Indexed for MEDLINE]
30. Ann Indian Acad Neurol. 2012 Jul;15(3):196-9. doi: 10.4103/0972-2327.99714.
Can Alberta infant motor scale and milani comparetti motor development screening test be rapid alternatives to bayley scales of infant development-II at high-risk infants.
Yıldırım ZH(1), Aydınlı N, Ekici B, Tatlı B, Calişkan M.
(1)Department of Pediatric Neurology, Istanbul Medical Faculty, Fatih/Istanbul,
PURPOSE: The main object of the present study is to assess neuromotor development of high-risk infants by using three tests, and to determine inter-test concordance and the feasibility of these tests.
MATERIALS AND METHODS: One-hundred and nine patients aged between 0 and 6 months and identified as "high-risk infant" according to the Kliegman's criteria were enrolled to the study. Three different tests were used to assess neuromotor development of the patients: Bayley scales of infant development-II (BSID-II), Alberta infant motor scale (AIMS), and Milani Comparetti Motor Development Screening Test (MCMDST).
RESULTS: Correlation analysis was performed between pure scores of BSID-II motor scale and total scores of AIMS. These two tests were highly correlated (r:0.92). Moderate concordance was found between BSID-II and AIMS (k:0.35). Slight concordance was found between BSID-II and MCMDST; and the concordance was slight again for AIMS and MCMDST (k:0.11 and k:0.16, respectively) too.
CONCLUSION: AIMS has a high correlation and consistency with BSID-II and can be used with routine neurological examination as it is based on observations, has few items, and requires less time to complete.
31. J Clin Neurosci. 2013 Mar;20(3):373-6. doi: 10.1016/j.jocn.2012.03.034. Epub 2012 Dec 7.
Positron emission tomography findings in children with infantile spasms and autism.
Dilber C(1), Calışkan M, Sönmezoğlu K, Nişli S, Mukaddes NM, Tatlı B, Aydınlı N, Ekici B, Özmen M.
(1)Department of Pediatric Neurology, Istanbul University, Arpaemini/Fatih, İstanbul 34093, Turkey.
The purpose of this study was to evaluate positron emission tomography (PET) findings in patients diagnosed with infantile spasms and autism. This study includes 90 patients who were diagnosed with infantile spasms at the Department of Pediatric Neurology in the Istanbul University Medical Faculty between 1995 and 2007. Of the 90 patients, 15 patients who were diagnosed with autism using the Autism Behaviour Checklist and Childhood Autism Rating Scale and a control group of nine patients without autism but with infantile spasms underwent PET examination. Mean patient age (± standard error, SE) varied between 3 years and 16 years (7.8 ± 4 years), while the mean follow-up time (±SE) varied between 2 years and 16 years (average: 7.1 ± 4 years). Autism was present in 11 patients with symptomatic spasms and in four patients with cryptogenic spasms (p=0.009). On the PET scans of the 15 patients with autism, 13 (86.7%) had significantly decreased metabolic activity in the temporal lobe (p<0.001), nine (60%) had significantly decreased activity in the frontal lobe (p=0.004), and seven (46.7%) had significantly decreased activity in the parietal lobe (p=0.022). In our opinion, hypometabolism in the frontal and parietal lobes, in addition to that previously reported in the temporal lobe, plays a role in the development of autism in patients with infantile spasms.
Copyright © 2012 Elsevier Ltd. All rights reserved.
PMID: 23219829 [Indexed for MEDLINE]
32. Acta Neurol Belg. 2013 Dec;113(4):531-2. doi: 10.1007/s13760-013-0179-5. Epub 2013 Jan 31.
Severe scoliosis in a patient with COLQ mutation and congenital myasthenic syndrome: a clue for diagnosis.
Duran GS(1), Uzunhan TA, Ekici B, Çıtak A, Aydınlı N, Çalışkan M.
(1)Department of Pediatric Intensive Care, Istanbul University, Fatih, Istanbul, Turkey,.
PMID: 23371844 [Indexed for MEDLINE]
33. Clin Neurol Neurosurg. 2013 Oct;115(10):2046-8. doi: 10.1016/j.clineuro.2013.06.014. Epub 2013 Jul 23.
Epilepsy in children with periventricular leukomalacia.
Ekici B(1), Aydınlı N, Aydın K, Çalışkan M, Eraslan E, Özmen M.
(1)Istanbul University, Istanbul Medical Faculty, Department of Pediatric Neurology, Istanbul, Turkey.
OBJECTIVE: We aimed to analyze the development of epilepsy in a patient group with periventricular leukomalacia followed at a tertiary pediatric neurology center.
PATIENTS AND METHODS: The study included 108 children aged between 2 and 8 years with radiologically proven periventricular leukomalacia who had been regularly observed at the Istanbul University, Istanbul Faculty of Medicine, Department of Pediatrics, Pediatric Neurology outpatient clinic between January 2006 and December 2011.
RESULTS: Neonatal seizures were reported in 22 patients (20.3%), 14 of whom developed epilepsy. A significant correlation was found between neonatal seizures and prematurity and newborn asphyxia (p=0.013 and p=0.010, respectively). Epilepsy developed in 35 patients (32.4%), history of neonatal seizures and more severe loss of white matter, periventricular hyperintensity and corpus callosum involvement were found to be correlated with epilepsy (p=0.001, p=0.004, p=0.016, and p=0.004, respectively). The most common seizure pattern observed was generalized tonic clonic seizures (n=13) and complex partial seizures (n=11). Those with focal EEG findings had a significantly better neurodevelopmental and cognitive level than those with multifocal/generalized EEG findings (p=0.024). Seizures continued with varying frequency in 14 epileptic patients (40%) despite antiepileptic treatment.
CONCLUSION: Almost a third of patients with periventricular leukomalacia develop epilepsy that can be intractable in substantial part. Neonatal seizures and severe MRI findings are important clues that can indicate the development of epilepsy in these patients.
Copyright © 2013 Elsevier B.V. All rights reserved.
PMID: 23891141 [Indexed for MEDLINE]
34. Ann Indian Acad Neurol. 2013 Jul;16(3):342-6. doi: 10.4103/0972-2327.116923.
Effects of oral motor therapy in children with cerebral palsy.
Sığan SN(1), Uzunhan TA, Aydınlı N, Eraslan E, Ekici B, Calışkan M.
(1)Department of Pediatric Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
AIM: Oral motor dysfunction is a common issue in children with cerebral palsy (CP). Drooling, difficulties with sucking, swallowing, and chewing are some of the problems often seen. In this study, we aimed to research the effect of oral motor therapy on pediatric CP patients with feeding problems.
MATERIALS AND METHODS: Included in this single centered, randomized, prospective
study were 81 children aged 12-42 months who had been diagnosed with CP, had oral motor dysfunction and were observed at the Pediatric Neurology outpatient clinic of the Children's Health and Diseases Department, Istanbul Medical Faculty, Istanbul University. Patients were randomized into two groups: The training group and the control group. One patient from the training group dropped out of the study because of not participating regularly. Following initial evaluation of all patients by a blinded physiotherapist and pedagogue, patients in the training group participated in 1 h oral motor training sessions with a different physiotherapist once a week for 6 months. All patients kept on routine physiotherapy by their own physiotherapists. Oral motor assessment form, functional feeding assessment (FFA) subscale of the multidisciplinary feeding profile (MFP) and the Bayley scales of infant development (BSID-II) were used to evaluate oral motor function, swallowing, chewing, the gag reflex, the asymmetrical tonic neck reflex, tongue, jaw, and mouth function, severity of drooling, aspiration, choking, independent feeding and tolerated food texture during the initial examination and 6 months later.
RESULTS: When the initial and post-therapy FFA and BSID-II scores received by patients in the training and the study group were compared, the training group showed a statistically significant improvement (P < 0.05).
CONCLUSION: Oral motor therapy has a beneficial effect on feeding problems in children with CP.
35. J Pediatr Neurosci. 2014 Sep-Dec;9(3):290-1. doi: 10.4103/1817-1745.147590.
A classical phenotype of Duchenne muscular dystrophy in a girl with X; autosome translocation.
Uzunhan TA(1), Altunoğlu U(2), Yıldız EP(1), Aydınlı N(1). Author information:
(1)Department of Pediatric Neurology, Istanbul Medical Faculty, Istanbul University, Capa, Istanbul, Turkey.
(2)Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Capa, Istanbul, Turkey.
36. Ann Indian Acad Neurol. 2015 Jan-Mar;18(1):24-8. doi: 10.4103/0972-2327.144274.
Pediatric Guillain-Barré syndrome: Indicators for a severe course.
Varkal MA(1), Uzunhan TA(1), Aydınlı N(1), Ekici B(1), Çalışkan M(1), Özmen M(1).
(1)Department of Pediatric Neurology, Istanbul Medical Faculty, Istanbul
University, Fatih, Istanbul, Turkey.
OBJECTIVES: This study aims to retrospectively evaluate pediatric Guillain-Barré syndrome cases in a tertiary center in Istanbul, Turkey.
MATERIALS AND METHODS: The data of 40 patients with Guillain-Barré syndrome who had been admitted to the Department of Pediatrics at the Istanbul University Medical Faculty between 2005 and 2011 were collected. Mann-Whitney U, Kruskal-Wallis, chi-square, and Fisher's exact tests were used for statistical analysis. RESULTS: Mean patient age was 5.4 ± 3.0 years; 20 out of 40 patients (50%) were female and 20 (50%) were male. Preceding infection was detected in 32 cases (80%). Six patients had speech impairment. Out of eight patients with respiratory distress (20%), five required respiratory support (12.5%) of which three of them had speech impairment as well. According to nerve conduction studies, 21 patients (52.5%) had acute inflammatory demyelinating polyradiculoneuropathy, 14 (35%) had acute motor axonal neuropathy, and five (12.5%) had acute motor-sensory axonal neuropathy. Thirty-three patients (82.5%) received intravenous immunglobulin, 3 (7.5%) underwent plasmapheresis and 4 (10%) received both. Time until recovery (P = 0.022) and time until aided (P = 0.036) and unaided (P = 0.027) walking were longer in patients with acute gastrointestinal infection than in those with upper respiratory tract infection (P < 0.05). Time until response to treatment (P = 0.001), time until aided (P = 0.001) and unaided (P = 0.002) walking, and time until complete recovery (P = 0.002) were longer in acute motor axonal neuropathy cases as compared to acute inflammatory demyelinating polyradiculoneuropathy cases.
CONCLUSION: Recovery was longer with acute gastrointestinal infection and acute motor axonal neuropathy. Speech impairment could be a clinical clue for the need of mechanical ventilation.
37. Minerva Pediatr. 2017 Jun;69(3):194-199. doi: 10.23736/S0026-4946.16.04081-0. Epub 2015 Jun 4.
A tertiary care center's experience with febrile seizures: evaluation of 632 cases.
Elshana H(1), Özmen M(1), Uzunhan TA(2), Uzunhan O(3), Ünüvar E(3), Kiliç A(3), Tatli B(1), Aydinli N(1), Çalişkan M(1).
(1)Department of Pediatric Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
(2)Department of Pediatric Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
(3)Department of General Pediatrics, Istanbul Medical Faculty, Istanbul University, Fatih‑Istanbul, Istanbul, Turkey.
BACKGROUND: The aim of this paper was to evaluate demographic and prognostic features of febrile seizures (FSs) in a tertiary center in Turkey.
METHODS: A retrospective study of 632 children with FS was conducted from January 1995 to January 2002 in the pediatric neurology and general pediatrics departments of Istanbul University, Istanbul Medical School. Patients data was collected and eligible patients were included in the study.
RESULTS: There were 386 male (61.1%) and 246 female (38.9%) patients, with a male-to-female ratio of 1.57. Twenty six (4.1%) patients had prenatal, 104 (16.5%) patients had perinatal-neonatal problems. Age at first seizure was 3-72 months with an average of 20.1 months. While 193 patients (30%) were admitted with two seizures, 246 (39%) were admitted with three or more. Out of 632 patients, 501 (79.2%) had recurrences. In an average of 5.8 years (4-8.8), 30 out of 632 patients (4.7%) were diagnosed with epilepsy. First degree relative with
FS, age at first FS less than 18 months, height of peak temperature (<38.5 °C), less than 1 or 3 hours between onset of fever and seizure, complex first seizure, complex FS were all related to febrile seizure recurrence in a statistically significant way. Some risk factors for subsequent epilepsy development included complex FS and less than one hour of fever before FS. No patient with FS had died.
CONCLUSIONS: Complex FS and less than 1 hour of fever before FS are common risk factors for both epilepsy and FS recurrence.
38. Journal of Neurology and Neuroscience, May 25, 2016
Received date: Apr 27, 2016; Accepted date: May 23, 2016; Published date: May 25, 2016
Gonca Bektas*, Edibe Pembegul Yildiz, Burak Tatli, Nur Aydinli, Mine Caliskan and Meral Ozmen
Department of Pediatric Neurology, Faculty of Medicine, Istanbul University, Istanbul, Turkey
Background: Guillain-Barre syndrome (GBS) is an acute immune-mediated demyelinating polyneuropathy, and it has been suggested that immune-mediated mechanism underlying the pathogenesis of GBS was triggered by infectious agents, vaccination, head trauma, operation, and malignancy. Risperidone, one of the secondgeneration antipsychotic drugs, tends to alter cytokine levels that could partly be attributed to GBS occurrence.
Findings: We herein present a 7 year-old-girl who developed GBS under risperidone treatment. The possibility of occurrence of GBS triggered by risperidone was analyzed using causality assessment scales of Naranjo and World Health Organization Collaborating Centre for International Drug Monitoring, the Uppsala Monitoring Centre (WHO–UMC). The results indicated that risperidone was a probable cause of GBS.
Conclusion: Patients with newly-emerging neurologic symptoms under risperidone should undergo detailed neurologic examination, and if necessary neurophysiologic assessment.
Guillain-Barre syndrome; Naranjo; Risperidone; TNF- α
39. Brain Dev. 2016 Aug;38(7):654-7. doi: 10.1016/j.braindev.2016.02.005. Epub 2016 Feb 20.
Aggravation of atonic seizures by rufinamide: A case report.
Bektaş G(1), Çalışkan M(2), Aydın A(2), Pembegül Yıldız E(2), Tatlı B(2), Aydınlı N(2), Özmen M(2).
(1)Department of Pediatric Neurology, Istanbul Medical Faculty, Istanbul University, Turkey.
(2)Department of Pediatric Neurology, Istanbul Medical Faculty, Istanbul University, Turkey.
BACKGROUND: Rufinamide is a novel antiepileptic drug used as adjunctive therapy in patients with Lennox-Gastaut syndrome and provides seizure control especially in tonic and atonic seizures. Rufinamide is expected to be effective in intractable epilepsy when atonic and tonic seizures exist. However, rufinamide induced seizure aggravation has been reported in a few patients, which was not associated with a specific type of seizure.
CASE: A 12-year-old boy with intractable epilepsy had tonic and atonic seizures despite treatment with valproic acid (3000mg/day), levetiracetam (3000mg/day) and clobazam (40mg/day). Rufinamide was administered as adjuvant therapy. After 2weeks on rufinamide, he experienced atonic seizure worsening, and the frequency of epileptic discharges increased. The deterioration in seizure frequency and epileptiform discharges resolved when rufinamide was discontinued.
CONCLUSION: Rufinamide may aggravate atonic seizures in patients with intractable epilepsy.
Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
PMID: 26906013 [Indexed for MEDLINE]
40. Springerplus. 2016 Aug 30;5(1):1439. doi: 10.1186/s40064-016-3121-5. eCollection 2016.
Evaluation of fetal subarachnoid space using transabdominal ultrasonography and normal values during pregnancy.
Corbacioglu Esmer A(1), Yuksel A(2), Aksu Uzunhan T(3), Demir O(2), Sarac Sivrikoz T(2), Aydinli N(3).
(1)Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Kanuni Sultan Suleyman Research and Teaching Hospital, Istanbul, Turkey.
(2)Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Istanbul University Faculty of Medicine, Istanbul, Turkey.
(3)Division of Pediatric Neurology, Department of Pediatrics, Istanbul University Faculty of Medicine, Istanbul, Turkey.
OBJECTIVES: To determine the feasibility of evaluating the subarachnoid space by measuring two novel sonographic parameters in axial section using transabdominal ultrasound, in addition to the parameters previously defined in coronal section, and to construct a normal range for the subarachnoid space width in singletonhealthy fetuses.
METHODS: Healthy pregnant women between 20 and 29 weeks were scanned using transabdominal ultrasound. Four variables were measured for the evaluation of subarachnoid space width; sinocortical width and anterior craniocortical width in coronal plane, and lateral and posterior craniocortical width in axial plane.
RESULT: The data of 154 patients were recorded. SCW could be measured in 87.6 % (135) of fetuses, while the same figure was 77.9 % (120), 96.1 % (151) and 98.1 % (148) for anterior, lateral and posterolateral CCW, respectively. The SCW and anterior CCW did not display a significant correlation with gestational age and head circumference. The mean of SCW was 1.55 ± 0.41 mm with a range of 0.85-3.87 mm. The mean anterior CCW was 1.63 ± 0.39 mm with a range of 0.85-2.82 mm. A linear regression line was plotted between gestational age and lateral CCW (r = 0.707; p < 0.0001) and posterolateral CCW (r = 0.437; p < 0.0001), and nomograms for these parameters are constructed.
CONCLUSION: This study presents a novel approach for the in utero evaluation of the subarachnoid space with two measurements in axial plane using transabdominal ultrasound. The nomograms will be helpful when there is a suspicion of subarachnoid space dilatation during routine cranial scan.
41. Brain Dev. 2017 Mar;39(3):248-251. doi: 10.1016/j.braindev.2016.10.008. Epub 2016 Nov 4.
Coexisting neuronal autoantibodies among children with demyelinating syndromes.
Kıztanır H(1), Bektaş G(2), Yıldız EP(3), Uzunhan TA(3), Tatlı B(3), Aydınlı N(3), Çalışkan M(3), Özmen M(3).
(1)Department of Pediatrics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
(2)Department of Pediatric Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey. Electronic address:
(3)Department of Pediatric Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
OBJECTIVES: To determine the incidence and clinical relevance of neuronal autoantibodies in children with demyelinating syndromes.
METHODS: We conducted a prospective study including 31 consecutive children with demyelinating syndromes. Four patients with N-Methyl-D-aspartate receptor (NMDAR) encephalitis, 32 patients with Guillain-Barre syndrome, 13 children with benign childhood epilepsy, and 28 healthy children were used as controls. Prior to initiating immunomodulatory therapy, serum samples were tested for antibodies against NMDAR, α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) 1, AMPAR2, leucine-rich glioma-activated protein 1, contactin-associated protein 2, gamma-aminobutyric acid B receptors, paraneoplastic ma antigen 2 (PNMA2/Ta), Yo, Ri, Hu, CV2, amphiphysin, and aquaporin-4 by indirect immunofluorescence assays.
RESULTS: Three anti-neuronal antibodies were detected; NMDAR antibody in one with multiple sclerosis, PNMA2/Ta antibody in one with multiple sclerosis, and Yo antibody in one with clinically isolated syndrome. The positivity rate of neuronal autoantibodies in demyelinating syndrome was 10%. All seropositive patients were found to be negative for tumor screening. None of these patients exhibited symptoms of encephalitis.
CONCLUSION: Children with demyelinating syndromes without symptoms of encephalitis can be positive for anti-neuronal antibodies.
Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
PMID: 27823947 [Indexed for MEDLINE]
42. Brain Dev. 2017 Jun;39(6):515-520. doi: 10.1016/j.braindev.2017.01.013. Epub 2017 Feb 16.
Psychosocial and behavioral functioning and their relationship to seizure timing in children with benign epilepsy with centrotemporal spikes.
Bektaş G(1), Tekin U(2), Yıldız EP(3), Uzunhan TA(3), Tatlı B(3), Aydınlı N(3), Çalışkan M(3), Özmen M(3).
(1)Department of Pediatric Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
(2)Department of Child and Adolescent Psychiatry, Ege University Faculty of Medicine, Izmir, Turkey.
(3)Department of Pediatric Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
BACKGROUND: Psychosocial and behavioral problems have been reported in children with benign epilepsy with centrotemporal spikes (BECTS). Distinctive features of typical BECTS associated with cognitive and behavioral problems have not clearly been defined.
PURPOSE: We aimed to identify psychosocial and behavioral functioning and their relationship to seizure timing in BECTS.
METHODS: Consecutive patients with BECTS were recruited from the pediatric neurology outpatient clinic between May 2015 and May 2016. The patients were divided into two subgroups in according to seizure timing; group 1 consisted of patients with seizures only in the morning short before awakening, and group 2 consisted of patients with seizure shortly after falling asleep or in both time periods. Neuropsychological and behavioral evaluation in patients and healthy controls were examined using the Wechsler Intelligence Scale for Children-Revised test and the Turkish version of Strengths and Difficulties Questionnaire (SDQ).
RESULTS: The participants comprised 46 children with BECTS and 49 healthy controls aged 7-16years. There was no significant difference between group 1, group 2, and control group regarding intelligence quantity in full-scale or verbal and performance subscales. Behavioral scores for overall stress significantly differed between group 2 and controls on the SDQ test, while group 1 and control group had no difference on the SDQ scores.
CONCLUSION: Patients with BECTS who have seizure shortly after falling asleep may have a tendency towards behavior difficulties.
Copyright © 2017 The Japanese Society of Child Neurology. Published by Elsevier
B.V. All rights reserved.
43. Acta Neurol Belg. 2017 Jun;117(2):447-453. doi: 10.1007/s13760-017-0775-x. Epub 2017 Apr 6.
Potential risk factors for vitamin D levels in medium- and long-term use of antiepileptic drugs in childhood.
Yildiz EP(1), Poyrazoglu Ş(2), Bektas G(3), Kardelen AD(2), Aydinli N(3).
(1)Division of Pediatric Neurology, Department of Pediatrics, Istanbul Faculty of Medicine, Istanbul University, Millet cd. Fatih, 34093, Istanbul, Turkey.
(2)Division of Pediatric Endocrinology, Department of Pediatrics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
(3)Division of Pediatric Neurology, Department of Pediatrics, Istanbul Faculty of Medicine, Istanbul University, Millet cd. Fatih, 34093, Istanbul, Turkey.
Antiepileptic drugs (AED) have potential side effects through vitamin-D. Prevalence of vitamin D insufficiency and potential risk factors for the longitudinal changes of vitamin D levels compared to its baseline levels under AED treatment were investigated in this study. This retrospective study includes patients whose AED therapy were started in only autumn months, between 2000 and 2014. Detailed assessment of neurologic diagnosis and brain MRI findings, ambulatory status, types and durations of AED treatment, and baseline bone health blood tests (vitamin-D, alkaline phosphatase, calcium, and phosphate levels) were obtained on all patients. Vitamin-D deficiency was defined as 25(OH)D <20 ng/mL, while vitamin-D insufficiency was defined as 25(OH)D between 21 and 29 ng/mL. A total of 172 children (mean age 9.6 ± 4.3 years) were followed up 5.3 years in average (range 1-14.7). The mean baseline 25(OH)D level was decreased from 24.4 ± 11.6 to 19.6 ± 10.7 ng/mL at the last follow up. The mean change in the vitamin-D levels (ΔD-vitamin) was -4.8 ng/mL (p = 0.003). The rate of vitamin-D deficiency was 54% and insufficiency was 25%. Multivariate logistic regression analysis identified only long-term use of AEDs as a risk factor for the longitudinal decrease. Monotherapy with valproic acid (n = 45), carbamazepine (n = 20), levetiracetam (n = 10) and phenobarbital (n = 12) was compared with each other. There was no difference in terms of longitudinal changes in 25(OH)D levels. In the treatment of childhood epilepsy, 25(OH)D levels should be monitored, especially when long-term AED used, in order to prevent D-hypovitaminosis.
44. Epilepsy Behav. 2017 Jul;72:39-42. doi: 10.1016/j.yebeh.2017.04.042. Epub 2017 May 30.
The influence of levetiracetam on psychosocial and behavioral functioning in children: A case-control and follow-up study.
Bektaş G(1), Tekin U(2), Özkan MU(3), Yıldız EP(3), Çalışkan M(3), Özmen M(3), Aydınlı N(3).
(1)Department of Pediatric Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
(2)Department of Child and Adolescent Psychiatry, Ege University Faculty of Medicine, Izmir, Turkey.
(3)Department of Pediatric Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
BACKGROUND: Levetiracetam, a widely used antiepileptic drug in children, has been associated with psychosocial and behavioral problems, which are also influenced by epilepsy variables, including duration or seizure frequency.
PURPOSE: The objective of this study is to investigate the frequency and timing of treatment-emergent psychosocial and behavioral problems in children receiving levetiracetam, irrespective of seizure variables which are possible confounders. METHODS: A prospective, case-control study with a 3-month follow-up was conducted. Consecutive children aged 6 to 16years with new-onset partial seizures were included in case of starting treatment with either levetiracetam or valproic acid. Psychosocial and behavioral functioning were assessed using a set of standardized questionnaires including Strengths and Difficulties Questionnaire (SDQ) and Children's Depression Inventory (CDI) at baseline, 1 and 3-month follow-up. Patients' baseline scores were compared to healthy subjects. The difference in the follow-up SDQ and CDI scores was evaluated in patients receiving levetiracetam and valproic acid.
RESULTS: A total of 101 participants were analyzed; 32 patients in levetiracetam group, 19 patients in valproic acid group and 50 healthy controls. Baseline SDQ and CDI scores were not statistically different between patients and healthy subjects (p>0.05). No statistically significant difference was observed in CDI, total and subscale SDQ scores between patients receiving levetiracetam or valproic acid during the study period (p>0.05). A girl aged 15years receiving levetiracetam had a CDI score of 18 without suicidal ideation at baseline. She developed suicidal ideation and depression, which resolved after switching of levetiracetam to valproic acid, at the 1-month follow-up. No other psychiatric or behavioral side-effects were observed in other patients.
CONCLUSION: Psychosocial and behavioral side-effects of levetiracetam treatment are not frequent and they don't emerge in most of children at lower doses. At this dose, and after 3months, using these specific instruments, we did not observe any difference between the valproic acid and levetiracetam treatment groups.
Copyright © 2017 Elsevier Inc. All rights reserved.
45. Childs Nerv Syst. 2017 Nov;33(11):2023-2027. doi: 10.1007/s00381-017-3586-8. Epub 2017 Sep 7.
Lacosamide treatment of childhood refractory focal epilepsy: the first reported
side effect in paediatric patients.
Yildiz EP(1), Ozkan MU(2), Bektas G(2), Uzunhan TA(2), Aydinli N(2), Caliskan M(2), Ozmen M(2).
(1)Istanbul Faculty of Medicine, Division of Pediatric Neurology, Department of Pediatrics, Istanbul University, Millet cd. Fatih, 34093, Istanbul, Turkey.
(2)Istanbul Faculty of Medicine, Division of Pediatric Neurology, Department of Pediatrics, Istanbul University, Millet cd. Fatih, 34093, Istanbul, Turkey.
PURPOSE: Lacosamide (LCM) is an effective antiepileptic drug (AED) approved for the treatment of focal epilepsy in both children and adults. The aim of this observational study was to review our centre's experience with LCM and to characterise its efficacy and tolerability as an adjunct therapy in children with refractory focal epilepsy.
METHODS: We retrospectively reviewed the medical records of 12 paediatric patients who underwent treatment with LCM from January 2014 to December 2015. We recorded the treatment response at three time points: at 3 and 6 months after LCM therapy and at the final follow-up visit. Children showing seizure reduction ≥ 50% were considered responders.
RESULTS: We included 12 patients (five boys), and their mean age was 13.8 years (range: 6.2-17.6 years) at the end of LCM treatment. The average length of follow-up after starting LCM was 23 months (11-37 months). Eight patients (66%) had > 50% reduction in seizures at the 3-month follow-up visit, and seven (58%) had > 50% reduction at the 6-month follow-up visit. Six patients (50%) maintained ≥ 50% reduction in seizures at the final follow-up visit. Two patients (16.6%) were seizure free at the 6-month and final follow-up visits. Common adverse side effects included dizziness, ataxia, nausea, and vomiting. Two patients developed status epilepticus (SE), one each at 3 and 11 days after the first LCM dose; they both discontinued treatment.
CONCLUSIONS: Our study points to the efficacy of LCM in a small paediatric group. Furthermore, it was important to report status epilepticus after LCM administration in the paediatric population for the first time.
46. Acta Neurol Belg. 2017 Oct 23. doi: 10.1007/s13760-017-0850-3. [Epub ahead of print]
Predictive factors of drug-resistant epilepsy in children presenting under 2 years of age: experience of a tertiary center in Turkey.
Yildiz EP(1), Gunes D(2), Bektas G(3), Aksu Uzunhan T(3), Tatli B(3), Caliskan M(3), Aydinli N(3), Ozmen M(3).
(1)Division of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Istanbul University, Millet cd. Fatih, 34093, Istanbul, Turkey.
(2)Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Faculty of Medicine, Istanbul University, Istanbul, Turkey.
(3)Division of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Istanbul University, Millet cd. Fatih, 34093, Istanbul, Turkey.
Population-based studies report that children with epilepsy have relatively better prognosis than those with an onset at infancy, though studies about this period are limited. We aimed to evaluate the etiology in infant epilepsy less than 2 years of age and foreseeable risk factors for anti-epileptic drug resistance. We evaluated the patients who were presented to the division of pediatric neurology in our university hospital with seizures when they were between 1 and 24 months of age and diagnosed as epilepsy. Two hundred and twenty-nine patients (110 male and 119 female) who were diagnosed between the ages of 1-24 months were included in the study. The etiologies were structural (n = 55;24%), genetic (n = 29;12.7%), metabolic (n = 27;11.7%), and infectious (n = 8;3.5%), and it was unknown in 110 patients (48%). One-hundred and forty (61%) patients met the criteria for drug-resistant epilepsy (DRE). Multivariate logistic regression analysis showed that developmental delay at onset (OR 3.9, 95% CI 1.22, 12.47, p = 0.021), multifocal epileptiform discharges (OR 2.8, 95% CI 1.1, 7.44, p = 0.031), and history of status epilepticus (OR 32.9, 95% CI 3.8, 285.35, p = 0.001) were strong predictive factors for DRE. The epilepsy in children under 2 years of age is highly resistant to the anti-epileptic drugs, which could be related to the history of status epilepticus, developmental delay at onset, and multifocal epileptiform discharges.
47. Clin Neurol Neurosurg. 2017 Nov 20;164:47-49. doi: 10.1016/j.clineuro.2017.11.008. [Epub ahead of print]
Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1.
Yildiz EP(1), Yesil G(2), Bektas G(3), Caliskan M(3), Tatlı B(3), Aydinli N(3), Ozmen M(3).
(1)Division of Pediatric Neurology, Department of Pediatrics, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
(2)Department of Medical Genetics, Bezmi Alem Vakif University Faculty of Medicine, Istanbul, Turkey.
(3)Division of Pediatric Neurology, Department of Pediatrics, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), a rare disorder caused by mutation in the ASAH1 gene, is characterized by progressive muscle weakness and intractable epilepsy. The literature about SMA-PME is very rare and most of the time limited to case reports. Mutation in the ASAH1 gene is also found in another rare syndrome which is Farber disease. We report a case of a 13.5-year-old girl with SMA-PME associated with ASAH1 gene mutation. She presented with progressive muscle weakness, tremor, seizure, and cognitive impairment. Clinical features and electrophysiological investigations revealed a motor neuron disease and generalized epilepsy. The marked difference in disease manifestations may explain why Farber and SMA-PME diseases were not suspected of being allelic conditions. SMA-PME cases with ASAH1 mutation could be treated using therapeutic studies regarding Farber disease. In patients with undefined PME or lower motor neuron disease cases, ASAH1 mutation scans should be studied.
Copyright © 2017. Published by Elsevier B.V.
48. Turk J Pediatr. 2017;59(3):329-334. doi: 10.24953/turkjped.2017.03.016.
Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation.
Bektaş G(1), Yeşil G(2), Yıldız EP(1), Aydınlı N(1), Çalışkan M(1), Özmen M(1).
(1)Division of Pediatric Neurology, Department of Pediatrics, Istanbul University, İstanbul Faculty of Medicine, İstanbul, Turkey.
(2)Department of Medical Genetics, Bezmi Alem Vakıf University Faculty of Medicine, İstanbul, Turkey.
Hereditary spastic paraplegia type 35 (SPG35) is a rare disorder characterized by progressive spasticity. Mutations in the fatty acid 2-hydroxylase (FA2H) gene in different loci are responsible for phenotypic variability. We aimed to define the phenotype of SPG35 linked to a novel homozygous mutation c.160_169dup (p.Asp57Glyfs*48) in the FA2H gene, and compared with the clinical characteristics and neuroimaging findings of the patients with mutation in the FA2H gene. We describe a 5-year-old boy presenting with spastic paraplegia. He developed a rapid progressive spastic paraplegia and loss of ambulation at an early age, despite the absence of accompanying seizure, neuropathy, cognitive impairment, speech disturbance, and optic atrophy.
Neuroimaging revealed white matter changes without brain iron accumulation. A duplication variation; leading to a truncated protein c.160_169dup in the FA2H gene was found on the homozygous state. A homozygous mutation c.160_169dup in the FA2H gene, which resulted in SPG35 phenotype, may present with rapid progressive spastic paraplegia at an early age.