Burak Tatli - Academia.edu (original) (raw)

Papers by Burak Tatli

Research paper thumbnail of Short-term neurological outcomes in ischemic and hemorrhagic pediatric stroke

Pediatrics International, 2018

Background: Our aim is to retrospectively assess short-term neurological outcomes in pediatric st... more Background: Our aim is to retrospectively assess short-term neurological outcomes in pediatric stroke with patient features. Methods:Children aged 28 days-18 years with arterial ischemic stroke (AIS), cerebral sinovenous thrombosis (CSVT), and hemorrhagic stroke (HS) between 2007 and 2013 were evaluated. Neurological findings within the first three months were accepted as short-term prognosis and modified Rankin scale was used. Results: In the study, 33 patients (62%) with AIS, 12 (23%) with HS, and 8 (15%) with CSVT were included. Moya moya syndrome was the most common new diagnosis in AIS. Stroke recurred in 5 (15%), one AIS patient with posterior circulation infarct died (3%). Prognosis in AIS was favorable for 20 patients (61%) and poor for 13 patients (39%). Fourty two percent of HS were of vascular origin. Seven patients (70%) with HS had good prognosis and 3 (30%) patients had poor prognosis with no death. Homocysteine related hypercoagulability was most frequently detected in the etiology CSVT. Synchronous systemic thrombosis was observed in 3 (37.5%) and death occurred in two (25%) CSVT patients. Prognosis was evaluated as favorable for 3 (37.5%) and poor for 5 of CSVT patients (62.5%). For thrombophilia, thrombosis panel was performed fully in 83% of AIS and CSVT patients. Conclusions: Pediatric stroke is associated with poor prognosis in a substantial number of patients in short term, with CSVT having the worst prognosis. Not only ischemic but also hemorrhagic stroke were presented with detailed patient characteristics, with a full thrombosis panel achieved for most ischemic stroke patients.

Research paper thumbnail of Predictive factors of drug-resistant epilepsy in children presenting under 2 years of age: experience of a tertiary center in Turkey

Acta neurologica Belgica, Jan 23, 2017

Population-based studies report that children with epilepsy have relatively better prognosis than... more 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 ...

Research paper thumbnail of A tertiary care center's experience with febrile seizures: evaluation of 632 cases

Minerva pediatrica, 2017

The aim of this paper was to evaluate demographic and prognostic features of febrile seizures (FS... more The aim of this paper was to evaluate demographic and prognostic features of febrile seizures (FSs) in a tertiary center in Turkey. 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. 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, heig...

Research paper thumbnail of Role of Autoantibodies to N-Methyl-d-Aspartate (NMDA) Receptor in Relapsing Herpes Simplex Encephalitis: A Retrospective, One-Center Experience

Journal of child neurology, Jan 16, 2015

Post-herpes simplex virus encephalitis relapses have been recently associated with autoimmunity d... more Post-herpes simplex virus encephalitis relapses have been recently associated with autoimmunity driven by autoantibodies against N-methyl-d-aspartate (NMDA) receptors. Because it offers different treatment options, determination of this condition is important. Between 2011 and 2014, 7 children with proven diagnosis of herpes simplex virus encephalitis were identified in a university hospital of Istanbul. Two patients had neurologic relapse characterized mainly by movement disorders 2 to 3 weeks after initial encephalitis. The first patient received a second 14 days of acyclovir treatment together with antiepileptic drugs and left with severe neurologic sequelae. The second patient was found to be NMDA receptors antibody positive in the cerebrospinal fluid. She was treated with intravenous immunoglobulin and prednisolone. She showed substantial improvement, gradually regaining lost neurologic abilities. Post-herpes simplex virus encephalitis relapses may frequently be immune-mediated...

Research paper thumbnail of Cerebral vasculitis and obsessive-compulsive disorder following varicella infection in childhood

The Turkish journal of pediatrics

Varicella is largely a childhood disease, with more than 90% of cases occurring in children young... more Varicella is largely a childhood disease, with more than 90% of cases occurring in children younger than 10 years. The primary infection is characterized by generalized vesicular dermal exanthemas, which are extremely contagious. Secondary bacterial infection and varicella pneumonia, usually seen in the immunocompromised or adult populations, may have high morbidity and mortality. Varicella in childhood is a generally benign and self-limited disorder; however, severe, life-threatening neurological complications may occur. We report a previously healthy eight-year-old boy who presented with acute hemiplegia and obsessive-compulsive disorder secondary to a lesion in lentiform nuclei associated with a history of recent varicella infection. The child was treated with sertraline for obsessive-compulsive disorder symptoms and made a full recovery.

Research paper thumbnail of Symptomatic and asymptomatic hypohidrosis in children under topiramate treatment

The Turkish journal of pediatrics

Topiramate (TPM) has peculiar side effects such as speech difficulties, weight loss, oligohidrosi... more 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...

Research paper thumbnail of Congenital Muscular Tortıcollis: Evaluation and Classification

Pediatric Neurology, 2006

In this investigation of congenital muscular torticollis, 311 infants treated consecutively for c... more 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.

Research paper thumbnail of Prenatal diagnosis of diastematomyelia: presentation of eight cases and review of the literature

Ultrasound in Obstetrics & Gynecology, 2007

ObjectivesDiastematomyelia is a rare form of spinal dysraphism. We present eight cases of diastem... more ObjectivesDiastematomyelia is a rare form of spinal dysraphism. We present eight cases of diastematomyelia diagnosed prenatally in our institution as well as a review of the literature in order to determine the prognosis of isolated cases of this very unusual condition.MethodsRecords of fetuses with diastematomyelia diagnosed in our institution between January 2000 and June 2005 were collected. All liveborn fetuses were examined by a pediatric neurologist. Pre‐ and postnatal data were analyzed. A search was then conducted using PubMed to review previously reported cases in the literature.ResultsEight cases of diastematomyelia were diagnosed during the study interval. The mean (range) gestational age at diagnosis was 21 (13–25) weeks. The main sonographic findings were widening of the spinal canal in the coronal view and an additional echogenic focus in the posterior part of the spinal column in the axial view. The diagnosis of associated open spina bifida was made in one fetus with ...

Research paper thumbnail of Single-voxel MR spectroscopy and diffusion-weighted MRI in two patients with l-2-hydroxyglutaric aciduria

Pediatric Radiology, 2003

Research paper thumbnail of Neuroblastoma: an unusual presentation with bilateral ptosis

Pediatric Neurology, 2004

Neuroblastoma, a common tumor of neural crest origin, demonstrates an extremely variable clinical... more 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.

Research paper thumbnail of Stroke in Childhood: Experience in Istanbul, Turkey

Journal of Tropical Pediatrics, 2005

Our objective was to characterize the etiologic factors and outcome for stroke in children. We re... more 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 40 days and 94 months (36.5 AE 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.

Research paper thumbnail of Etiologic Evaluation in 247 Children with Global Developmental Delay at Istanbul, Turkey

Journal of Tropical Pediatrics, 2005

Objective: Developmental delay is a common pediatric problem, having a great number of underlying... more Objective: Developmental delay is a common pediatric problem, having a great number 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 AE 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.

Research paper thumbnail of Reversible temporal lobe edema: An early MRI finding in Menkes disease

Journal of Pediatric Neurosciences, 2012

Research paper thumbnail of Evaluation of the North Star Ambulatory Assessment scale and cardiac abnormalities in ambulant boys with Duchenne muscular dystrophy

Journal of Paediatrics and Child Health, 2012

Aim We evaluated ambulatory patients with Duchenne muscular dystrophy from the cardiovascular st... more Aim We evaluated ambulatory patients with Duchenne muscular dystrophy from the cardiovascular standpoint and studied the correlation between the results of electrocardiographic (ECG) findings, left ventricular ejection fraction (LVEF), troponin T and N‐terminal pro‐brain natriuretic peptide (NT‐proBNP) levels and patients' North Star Ambulatory Assessment scores.Methods: Fifty patients of ages 6–12 (8.9 ± 2.8) were enrolled in this cross‐sectional study. Cardiac evaluation included electrocardiography, echocardiography and cardiac enzyme tests.Results North Star scores ranged from 6/34 to 34/34. Twenty‐eight patients (56%) had ECG changes. The most frequently seen ECG abnormalities were short PR interval (14%, n= 7), right ventricular hypertrophy (16%, n= 8), prolonged QTc interval (10%, n= 5), prominent Q wave (10%, n= 5) and T wave inversion (44%, n= 22). In 10 patients (20%), LVEF was below 55%, troponin T and NT‐proBNP levels were significantly elevated (P= 0.003 and P &l...

Research paper thumbnail of Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Nature, Jan 9, 2010

The development of the human cerebral cortex is an orchestrated process involving the generation ... more The development of the human cerebral cortex is an orchestrated process involving the generation of neural progenitors in the periventricular germinal zones, cell proliferation characterized by symmetric and asymmetric mitoses, followed by migration of post-mitotic neurons to their final destinations in six highly ordered, functionally specialized layers. An understanding of the molecular mechanisms guiding these intricate processes is in its infancy, substantially driven by the discovery of rare mutations that cause malformations of cortical development. Mapping of disease loci in putative Mendelian forms of malformations of cortical development has been hindered by marked locus heterogeneity, small kindred sizes and diagnostic classifications that may not reflect molecular pathogenesis. Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebra...

Research paper thumbnail of Mutational screening of BASP1 and transcribed processed pseudogene TPΨg-BASP1 in patients with Möbius syndrome

Journal of Genetics and Genomics, 2009

Möbius syndrome is a rare disorder primarily characterized by congenital facial palsy, frequently... more Möbius syndrome is a rare disorder primarily characterized by congenital facial palsy, frequently accompanied by ocular abduction anomalies and occasionally associated with orofacial, limb and musculoskeletal malformations. Abnormal development of cranial nerves V through XII underlines the disease pathogenesis. Although a genetic etiology for Möbius syndrome was proposed, molecular genetic studies to identify the causative gene(s) are scarce. In this study, we selected two candidate genes. One is BASP1 residing in a human chromosome 5p15.1-p15.2, syntenic to mouse chromosome 15qA2-qB2, to which a mouse model with facial nerve anomalies was mapped. The other is transcribed processed pseudogene TPPsig-BASP1, which is located on chromosome 13q flanking the putative locus for Möbius syndrome and might be involved in the regulation of the transcripts encoded by BASP1. Mutation analyses in nineteen patients excluded these genes as being candidates for Möbius syndrome.

Research paper thumbnail of Quadruple Salivary Duct Diversion for Drooling in Cerebral Palsy

Journal of Craniofacial Surgery, 2012

Drooling complicates many neurologic disorders including cerebral palsy. It is socially debilitat... more Drooling complicates many neurologic disorders including cerebral palsy. It is socially debilitating for the patient and very tedious for the caregiver. Surgical treatment consists mainly of ablative (excision/ligation) or physiological (diversion) methods; combined techniques have also been proposed. We have applied bilateral diversion of both submandibular and parotid ducts in 12 cerebral palsy patients (age range, 7Y15 years). Preoperative drooling severity was grade 4/5 in 10 cases and grade 5/5 in 2 of the cases. All patients underwent physiotherapy for a minimum of 6 months and were consulted with a dentist, otolaryngologist, and a speech therapist before surgery. No bleeding, hematoma, or infection has been observed in any of the patients. Two patients had early postoperative tongue edema that regressed with conservative treatment. All patients except one regressed to grade 2/5 drooling by the first postoperative month. In 1 patient who had previously been classified as grade 5/5, surgery provided limited improvement with only 1 grade of step-down. Satisfactory results for the patients and their families could be achieved and sustained for a median 18 months (7Y20 months) of follow-up. In conclusion, the quadruple duct diversion method is an effective physiological surgical method in the control of drooling in cerebral palsy.

Research paper thumbnail of Not a New Leukodystrophy but Congenital Cytomegalovirus Infection

Journal of Child Neurology, 2005

We report a 16-month-old girl who presented with global developmental delay and hearing loss. Cra... more 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. ( J Child Neurol 2005;20:525—527).

Research paper thumbnail of Flupirtine may stop the progressive course of subacute sclerosing panencephalitis

Medical hypotheses, 2010

Subacute sclerosing panencephalitis (SSPE) is a progressive devastating disease. Along with the s... more Subacute sclerosing panencephalitis (SSPE) is a progressive devastating disease. Along with the slow measles virus infection, apoptotic cell death has shown to be one of the major mechanisms at the pathogenesis. Volume reduction in frontotemporal cortex has seen in patients at early stages of disease. At present, there is no effective treatment to completely cure SSPE. Oral isoprinosine and intrathecal or intraventricular alpha-interferon are anti viral therapies with limited success. Flupirtine is an anti apoptotic agent which has been used with limited success in Alzheimer disease, prion diseases and neuronal ceroid lipofuscinosis which is a inherited disease of apoptosis related genes. Therefore, we hypothesize that flupirtine with combination of antiviral therapy may halt the progressive course of the disease.

Research paper thumbnail of MRS findings in electrical status epilepticus in sleep: Report of two cases

Surgical neurology international, 2011

To evaluate the changes in brain metabolites by H1 magnetic resonance spectroscopy in two patient... more To evaluate the changes in brain metabolites by H1 magnetic resonance spectroscopy in two patients with electrical status epilepticus.

Research paper thumbnail of Short-term neurological outcomes in ischemic and hemorrhagic pediatric stroke

Pediatrics International, 2018

Background: Our aim is to retrospectively assess short-term neurological outcomes in pediatric st... more Background: Our aim is to retrospectively assess short-term neurological outcomes in pediatric stroke with patient features. Methods:Children aged 28 days-18 years with arterial ischemic stroke (AIS), cerebral sinovenous thrombosis (CSVT), and hemorrhagic stroke (HS) between 2007 and 2013 were evaluated. Neurological findings within the first three months were accepted as short-term prognosis and modified Rankin scale was used. Results: In the study, 33 patients (62%) with AIS, 12 (23%) with HS, and 8 (15%) with CSVT were included. Moya moya syndrome was the most common new diagnosis in AIS. Stroke recurred in 5 (15%), one AIS patient with posterior circulation infarct died (3%). Prognosis in AIS was favorable for 20 patients (61%) and poor for 13 patients (39%). Fourty two percent of HS were of vascular origin. Seven patients (70%) with HS had good prognosis and 3 (30%) patients had poor prognosis with no death. Homocysteine related hypercoagulability was most frequently detected in the etiology CSVT. Synchronous systemic thrombosis was observed in 3 (37.5%) and death occurred in two (25%) CSVT patients. Prognosis was evaluated as favorable for 3 (37.5%) and poor for 5 of CSVT patients (62.5%). For thrombophilia, thrombosis panel was performed fully in 83% of AIS and CSVT patients. Conclusions: Pediatric stroke is associated with poor prognosis in a substantial number of patients in short term, with CSVT having the worst prognosis. Not only ischemic but also hemorrhagic stroke were presented with detailed patient characteristics, with a full thrombosis panel achieved for most ischemic stroke patients.

Research paper thumbnail of Predictive factors of drug-resistant epilepsy in children presenting under 2 years of age: experience of a tertiary center in Turkey

Acta neurologica Belgica, Jan 23, 2017

Population-based studies report that children with epilepsy have relatively better prognosis than... more 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 ...

Research paper thumbnail of A tertiary care center's experience with febrile seizures: evaluation of 632 cases

Minerva pediatrica, 2017

The aim of this paper was to evaluate demographic and prognostic features of febrile seizures (FS... more The aim of this paper was to evaluate demographic and prognostic features of febrile seizures (FSs) in a tertiary center in Turkey. 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. 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, heig...

Research paper thumbnail of Role of Autoantibodies to N-Methyl-d-Aspartate (NMDA) Receptor in Relapsing Herpes Simplex Encephalitis: A Retrospective, One-Center Experience

Journal of child neurology, Jan 16, 2015

Post-herpes simplex virus encephalitis relapses have been recently associated with autoimmunity d... more Post-herpes simplex virus encephalitis relapses have been recently associated with autoimmunity driven by autoantibodies against N-methyl-d-aspartate (NMDA) receptors. Because it offers different treatment options, determination of this condition is important. Between 2011 and 2014, 7 children with proven diagnosis of herpes simplex virus encephalitis were identified in a university hospital of Istanbul. Two patients had neurologic relapse characterized mainly by movement disorders 2 to 3 weeks after initial encephalitis. The first patient received a second 14 days of acyclovir treatment together with antiepileptic drugs and left with severe neurologic sequelae. The second patient was found to be NMDA receptors antibody positive in the cerebrospinal fluid. She was treated with intravenous immunoglobulin and prednisolone. She showed substantial improvement, gradually regaining lost neurologic abilities. Post-herpes simplex virus encephalitis relapses may frequently be immune-mediated...

Research paper thumbnail of Cerebral vasculitis and obsessive-compulsive disorder following varicella infection in childhood

The Turkish journal of pediatrics

Varicella is largely a childhood disease, with more than 90% of cases occurring in children young... more Varicella is largely a childhood disease, with more than 90% of cases occurring in children younger than 10 years. The primary infection is characterized by generalized vesicular dermal exanthemas, which are extremely contagious. Secondary bacterial infection and varicella pneumonia, usually seen in the immunocompromised or adult populations, may have high morbidity and mortality. Varicella in childhood is a generally benign and self-limited disorder; however, severe, life-threatening neurological complications may occur. We report a previously healthy eight-year-old boy who presented with acute hemiplegia and obsessive-compulsive disorder secondary to a lesion in lentiform nuclei associated with a history of recent varicella infection. The child was treated with sertraline for obsessive-compulsive disorder symptoms and made a full recovery.

Research paper thumbnail of Symptomatic and asymptomatic hypohidrosis in children under topiramate treatment

The Turkish journal of pediatrics

Topiramate (TPM) has peculiar side effects such as speech difficulties, weight loss, oligohidrosi... more 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...

Research paper thumbnail of Congenital Muscular Tortıcollis: Evaluation and Classification

Pediatric Neurology, 2006

In this investigation of congenital muscular torticollis, 311 infants treated consecutively for c... more 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.

Research paper thumbnail of Prenatal diagnosis of diastematomyelia: presentation of eight cases and review of the literature

Ultrasound in Obstetrics & Gynecology, 2007

ObjectivesDiastematomyelia is a rare form of spinal dysraphism. We present eight cases of diastem... more ObjectivesDiastematomyelia is a rare form of spinal dysraphism. We present eight cases of diastematomyelia diagnosed prenatally in our institution as well as a review of the literature in order to determine the prognosis of isolated cases of this very unusual condition.MethodsRecords of fetuses with diastematomyelia diagnosed in our institution between January 2000 and June 2005 were collected. All liveborn fetuses were examined by a pediatric neurologist. Pre‐ and postnatal data were analyzed. A search was then conducted using PubMed to review previously reported cases in the literature.ResultsEight cases of diastematomyelia were diagnosed during the study interval. The mean (range) gestational age at diagnosis was 21 (13–25) weeks. The main sonographic findings were widening of the spinal canal in the coronal view and an additional echogenic focus in the posterior part of the spinal column in the axial view. The diagnosis of associated open spina bifida was made in one fetus with ...

Research paper thumbnail of Single-voxel MR spectroscopy and diffusion-weighted MRI in two patients with l-2-hydroxyglutaric aciduria

Pediatric Radiology, 2003

Research paper thumbnail of Neuroblastoma: an unusual presentation with bilateral ptosis

Pediatric Neurology, 2004

Neuroblastoma, a common tumor of neural crest origin, demonstrates an extremely variable clinical... more 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.

Research paper thumbnail of Stroke in Childhood: Experience in Istanbul, Turkey

Journal of Tropical Pediatrics, 2005

Our objective was to characterize the etiologic factors and outcome for stroke in children. We re... more 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 40 days and 94 months (36.5 AE 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.

Research paper thumbnail of Etiologic Evaluation in 247 Children with Global Developmental Delay at Istanbul, Turkey

Journal of Tropical Pediatrics, 2005

Objective: Developmental delay is a common pediatric problem, having a great number of underlying... more Objective: Developmental delay is a common pediatric problem, having a great number 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 AE 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.

Research paper thumbnail of Reversible temporal lobe edema: An early MRI finding in Menkes disease

Journal of Pediatric Neurosciences, 2012

Research paper thumbnail of Evaluation of the North Star Ambulatory Assessment scale and cardiac abnormalities in ambulant boys with Duchenne muscular dystrophy

Journal of Paediatrics and Child Health, 2012

Aim We evaluated ambulatory patients with Duchenne muscular dystrophy from the cardiovascular st... more Aim We evaluated ambulatory patients with Duchenne muscular dystrophy from the cardiovascular standpoint and studied the correlation between the results of electrocardiographic (ECG) findings, left ventricular ejection fraction (LVEF), troponin T and N‐terminal pro‐brain natriuretic peptide (NT‐proBNP) levels and patients' North Star Ambulatory Assessment scores.Methods: Fifty patients of ages 6–12 (8.9 ± 2.8) were enrolled in this cross‐sectional study. Cardiac evaluation included electrocardiography, echocardiography and cardiac enzyme tests.Results North Star scores ranged from 6/34 to 34/34. Twenty‐eight patients (56%) had ECG changes. The most frequently seen ECG abnormalities were short PR interval (14%, n= 7), right ventricular hypertrophy (16%, n= 8), prolonged QTc interval (10%, n= 5), prominent Q wave (10%, n= 5) and T wave inversion (44%, n= 22). In 10 patients (20%), LVEF was below 55%, troponin T and NT‐proBNP levels were significantly elevated (P= 0.003 and P &l...

Research paper thumbnail of Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Nature, Jan 9, 2010

The development of the human cerebral cortex is an orchestrated process involving the generation ... more The development of the human cerebral cortex is an orchestrated process involving the generation of neural progenitors in the periventricular germinal zones, cell proliferation characterized by symmetric and asymmetric mitoses, followed by migration of post-mitotic neurons to their final destinations in six highly ordered, functionally specialized layers. An understanding of the molecular mechanisms guiding these intricate processes is in its infancy, substantially driven by the discovery of rare mutations that cause malformations of cortical development. Mapping of disease loci in putative Mendelian forms of malformations of cortical development has been hindered by marked locus heterogeneity, small kindred sizes and diagnostic classifications that may not reflect molecular pathogenesis. Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebra...

Research paper thumbnail of Mutational screening of BASP1 and transcribed processed pseudogene TPΨg-BASP1 in patients with Möbius syndrome

Journal of Genetics and Genomics, 2009

Möbius syndrome is a rare disorder primarily characterized by congenital facial palsy, frequently... more Möbius syndrome is a rare disorder primarily characterized by congenital facial palsy, frequently accompanied by ocular abduction anomalies and occasionally associated with orofacial, limb and musculoskeletal malformations. Abnormal development of cranial nerves V through XII underlines the disease pathogenesis. Although a genetic etiology for Möbius syndrome was proposed, molecular genetic studies to identify the causative gene(s) are scarce. In this study, we selected two candidate genes. One is BASP1 residing in a human chromosome 5p15.1-p15.2, syntenic to mouse chromosome 15qA2-qB2, to which a mouse model with facial nerve anomalies was mapped. The other is transcribed processed pseudogene TPPsig-BASP1, which is located on chromosome 13q flanking the putative locus for Möbius syndrome and might be involved in the regulation of the transcripts encoded by BASP1. Mutation analyses in nineteen patients excluded these genes as being candidates for Möbius syndrome.

Research paper thumbnail of Quadruple Salivary Duct Diversion for Drooling in Cerebral Palsy

Journal of Craniofacial Surgery, 2012

Drooling complicates many neurologic disorders including cerebral palsy. It is socially debilitat... more Drooling complicates many neurologic disorders including cerebral palsy. It is socially debilitating for the patient and very tedious for the caregiver. Surgical treatment consists mainly of ablative (excision/ligation) or physiological (diversion) methods; combined techniques have also been proposed. We have applied bilateral diversion of both submandibular and parotid ducts in 12 cerebral palsy patients (age range, 7Y15 years). Preoperative drooling severity was grade 4/5 in 10 cases and grade 5/5 in 2 of the cases. All patients underwent physiotherapy for a minimum of 6 months and were consulted with a dentist, otolaryngologist, and a speech therapist before surgery. No bleeding, hematoma, or infection has been observed in any of the patients. Two patients had early postoperative tongue edema that regressed with conservative treatment. All patients except one regressed to grade 2/5 drooling by the first postoperative month. In 1 patient who had previously been classified as grade 5/5, surgery provided limited improvement with only 1 grade of step-down. Satisfactory results for the patients and their families could be achieved and sustained for a median 18 months (7Y20 months) of follow-up. In conclusion, the quadruple duct diversion method is an effective physiological surgical method in the control of drooling in cerebral palsy.

Research paper thumbnail of Not a New Leukodystrophy but Congenital Cytomegalovirus Infection

Journal of Child Neurology, 2005

We report a 16-month-old girl who presented with global developmental delay and hearing loss. Cra... more 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. ( J Child Neurol 2005;20:525—527).

Research paper thumbnail of Flupirtine may stop the progressive course of subacute sclerosing panencephalitis

Medical hypotheses, 2010

Subacute sclerosing panencephalitis (SSPE) is a progressive devastating disease. Along with the s... more Subacute sclerosing panencephalitis (SSPE) is a progressive devastating disease. Along with the slow measles virus infection, apoptotic cell death has shown to be one of the major mechanisms at the pathogenesis. Volume reduction in frontotemporal cortex has seen in patients at early stages of disease. At present, there is no effective treatment to completely cure SSPE. Oral isoprinosine and intrathecal or intraventricular alpha-interferon are anti viral therapies with limited success. Flupirtine is an anti apoptotic agent which has been used with limited success in Alzheimer disease, prion diseases and neuronal ceroid lipofuscinosis which is a inherited disease of apoptosis related genes. Therefore, we hypothesize that flupirtine with combination of antiviral therapy may halt the progressive course of the disease.

Research paper thumbnail of MRS findings in electrical status epilepticus in sleep: Report of two cases

Surgical neurology international, 2011

To evaluate the changes in brain metabolites by H1 magnetic resonance spectroscopy in two patient... more To evaluate the changes in brain metabolites by H1 magnetic resonance spectroscopy in two patients with electrical status epilepticus.