Progressive multifocal leukoencephalopathy with a benign prognosis in an immunocompetent patient - A case report.

John Cunningham virus (JCV) is most commonly acquired in childhood and is often asymptomatic throughout life. However, in the case of primary or secondary immunosuppression, it is known to cause progressive multifocal leukoencephalopathy (PML) in the central nervous system. Hereby, we describe a rare case of PML in a patient without known factors of immunosuppression or use of immunomodulation.

Vertigo in childhood: a retrospective series of 100 children.

Objective: Evaluation and management of vertigo in children vary between institutions and medical specialties. The aim of this study is to describe the characteristics of vertigo in children presenting to a pediatric neurology referral center and to investigate the relationship between vertigo and migraine.

Study Design: Patients <18 years old presenting with vertigo to Hacettepe University Ihsan Dogramaci Children's Hospital Neurology Unit between January 1996-January 2012 were included (n = 100).

Absence of exon 17 c.2970-2872delAAT mutation in Turkish NF1 patients with mild phenotype.

Introduction: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by café-au-lait spots, neurofibromas, skinfold freckles, Lisch nodules, bone deformities, learning disabilities, and predisposition to neoplasms. It is caused by various mutations of the NF1 gene. Recently a 3-bp in-frame deletion in exon 17, c.

Household poisoning cases from mercury brought from school.

Mercury has a number of unique and fascinating properties. It is present in the environment in several forms, both organic and inorganic. Each of these forms has somewhat unique properties that differentiate them from the other forms, but all are toxic to humans in one way or the others.

Reproductive decisions after prenatal diagnosis in neurofibromatosis type 1: importance of genetic counseling.

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders affecting approximately 1/3500 individuals in all ethnic groups. It is characterized by cutaneous and plexiform neurofibromas, café-au-lait spots, Lisch nodules, freckling in axillary and inguinal regions, optic gliomas and an increased risk of malignancy. The mutation rate of NF1 is one of the highest known for human disorders: approximately 50% of all affected individuals carry de novo mutations.

Hypomelanosis of Ito and Sturge-Weber syndrome without facial nevus: an association or a new syndrome?

Sturge-Weber syndrome without facial nevus is rare. Twenty-four cases were previously reported. Although hypomelanosis of Ito is a relatively common disorder, there was only one previous case in association with Sturge-Weber syndrome.

Lamotrigine in children with refractory epilepsy.

We studied the efficacy and side effect profile oflamotrigine (LTG) in children with intractable epilepsy. We reviewed the database of our prolonged video-EEG laboratory to screen patients with intractable epilepsy who were on LTG either alone or in combination for three months or more. Of 75 patients, 28 patients (37%) had primary generalized seizures, 42 patients (56%) had partial onset seizures with or without secondary generalization, and 5 patients (7%) had two or more types of seizures.

Risk of recurrence after drug withdrawal in childhood epilepsy.

Objectives: After a reasonable seizure-free period, discontinuation of antiepileptic drugs (AED) is usually decided in epileptic patients despite the risk of seizure recurrence. In children, risk of recurrence after discontinuation of AED is generally 20-40%; however, there is still no general agreement on the criteria to predict safe discontinuation. This study was designed to determine the risk of recurrence and related risk factors after drug withdrawal in epileptic children.

Neurofibromatosis: novel and recurrent mutations in Turkish patients.

Neurofibromatosis type 1 is an autosomal-dominant disorder affecting approximately 1 in 3500 births. It is characterized by café-au-lait spots, neurofibromas, axillary/inguinal freckling, and skeletal and neurologic signs. It exhibits full penetrance and a high mutation rate: 50% of neurofibromatosis type 1 patients represent a new mutation.

Significance of factor V, prothrombin, MTHFR, and PAI-1 genotypes in childhood cerebral thrombosis.

The aim of this study was to evaluate the significance of factor V (FV) G1691A, prothrombin G20210A, methylenetetrahydrofolate reductase (MTHFR) C677T, and plasminogen activator inhibitor-1 (PAI-1) 4G/5G genotypes in development of childhood cerebral thrombosis (CT). A total of 113 Turkish children with CT were studied and compared with the control group. The carrier frequency of the factor V G1691A mutation was found to be significantly higher in the patient group (17.

Evaluation of neuronal damage following hypoxic-ischaemic brain injury in acute and early chronic periods in neonatal rats.

This study was undertaken to investigate the effects of neonatal cerebral hypoxic-ischaemic brain injury (HIBI) in acute and early chronic phases in the rat. HIBI was induced in 7-day-old rat pups by ligation of the right common carotid and then the pups were exposed to 1 h of hypoxia in 8% oxygen. They were divided into two groups: 1-day (acute phase, in the first 24 h) and 5-day (early chronic phase, 120 h).

Vigabatrin in pediatric patients with refractory epilepsy.

New generation antiepileptic medications have improved seizure outcome in patients with intractable epilepsy. We studied the efficacy and side effect profile of vigabatrin (VGB) in pediatric patients with intractable seizure disorder. We reviewed the database of our short-term video-EEG monitoring laboratory to screen patients with intractable epilepsy who were on VGB either alone or in combination for three months or more.

Molecular genetic analyses in neurofibromatosis type 1 patients with tumors.

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders. NF1 is clinically characterized by neurofibromas, pigmentation anomalies, and an increased risk of malignant tumors. The NF1 gene product, neurofibromin, has a GTPase-activating protein domain (GRD) that interacts with the Ras protein, which is crucial in regulating signal transduction and cell proliferation/differentiation.

Reversible posterior leukoencephalopathy syndrome: report of three cases.

Reversible posterior leukoencephalopathy syndrome is characterized clinically by headache, abnormalities of mental status and visual perception, and seizures. Despite its diverse causes, common precipitating factors are defined as abrupt elevations of blood pressure, renal decompensation, fluid retention, and immunosuppressive therapy. We report three children with reversible posterior leukoencephalopathy syndrome presenting with generalized seizures and headache.

Protective effects of valproic acid against hypoxic-ischemic brain injury in neonatal rats.

Although controversial, protective and therapeutic effects of valproic acid in various types of cellular injury suggest a potential role for this agent in hypoxic-ischemic brain injury. We therefore investigated the effects of valproic acid in an experimental model of neonatal hypoxic-ischemic brain injury. To examine the effect of valproic acid in this condition, hypoxic-ischemic brain injury was induced in 7-day-old rat pups by ligation of the right common carotid and then the pups were exposed to 1 hour of hypoxia in 8% oxygen.

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.

Background: Joubert syndrome (JS) is an autosomal recessive disorder characterised by hypotonia, ataxia, mental retardation, altered respiratory pattern, abnormal eye movements, and a brain malformation known as the molar tooth sign (MTS) on cranial MRI. Four genetic loci have been mapped, with two genes identified (AHI1 and NPHP1).

Methods: We screened a cohort of 117 JS subjects for AHI1 mutations by a combination of haplotype analysis and sequencing of the gene, and for the homozygous NPHP1 deletion by sequencing and marker analysis.

Giant axonal neuropathy: clinical and genetic study in six cases.

Background: Giant axonal neuropathy (GAN) is a severe recessive disorder characterised by variable combination of progressive sensory motor neuropathy, central nervous system (CNS) involvement, and "frizzly" hair. The disease is caused by GAN gene mutations on chromosome 16q24.1.

Familial segmental neurofibromatosis.

Segmental neurofibromatosis is considered to be the result of postzygotic NF1 gene mutations. We present a family in which the proband has generalized neurofibromatosis 1, whereas members of previous generations manifest segmental skin lesions. All, including the clinically asymptomatic grandmother, carry the same haplotype.

Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.

Neuronal ceroid lipofuscinosis (NCL) is one of the most common progressive neurodegenerative diseases seen in childhood. NCL is inherited as autosomal recessive trait, and is characterized by the accumulation of 'ceroid lipofuscin' in neuronal and extraneuronal cells. Clinical features include seizures, ataxia, myoclonus, loss of vision, and mental and motor deterioration.

Clinical, electrophysiological and neuropsychological findings of twenty-two children with mesial temporal sclerosis.

Twenty-two patients, followed with the diagnosis of epilepsy between the ages of 8.5 and 19 years who were found to have mesial temporal sclerosis (MTS) on brain magnetic resonance imaging (MRI) were evaluated according to their clinical, electrophysiological and neuropsychological characteristics, and assessed for the significance of neuropsychological tests on lateralization. In both MTS groups, a remarkable number of patients had their intial seizure before one year of age (45.

Molecular analysis of neurofibromatosis type 1 in Turkish families using polymorphic markers.

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder characterized by multiple neurofibromas, café-au-lait spots, and Lisch nodules of iris. The NF1 gene is located on chromosome 17q11.2 and encodes an 11-13 kb mRNA containing 60 exons.

Mutation analysis of TSC2 gene in 33 Turkish familial cases with tuberous sclerosis.

Tuberous sclerosis is an autosomal dominant multisystem disorder characterized by hamartomatous growths in different organs. Disease determining genes are localized to 9q34 (TSC1) and 16p13.3 (TSC2).