Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.

Spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous disease characterized by the degeneration of lower motor neurons. The most frequent form is linked to mutations in SMN1. Childhood SMA associated with progressive myoclonic epilepsy (SMA-PME) has been reported as a rare autosomal-recessive condition unlinked to mutations in SMN1.

Spinal muscular atrophy with progressive myoclonic epilepsy: report of new cases and review of the literature.

Spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous disease characterised by loss of motor function and muscle atrophy due to anterior horn cell degeneration. The most common variant is chromosome 5-linked proximal SMA, ranging in severity from congenital onset and infantile death to onset in adult life. Genetically separate variants with different distribution of weakness and/or additional features such as central nervous system involvement have been described.

Mental retardation with rare fragile site expressed at 2q11.

Several rare autosomal folate sensitive fragile sites were reported in individuals with mental retardation, neurological abnormalities, and multiple congenital malformations. Only three of them: fra(11)(q22.3), fra(X)(q27.

Parietal lipoma associated with cortical dysplasia and abnormal vasculature: case report and review of the literature.

We present the case of an unusually located intracranial lipoma in a 17-year-old patient with partial epilepsy who was being controlled with medication. The lipoma was located deep in the left sylvian fissure, in the inferior parietal lobule, associated with cortical dysplasia of the surrounding supramarginal gyrus. Abnormal vasculature was detected adjacent to and within the adipose mass.

Arylsulfatase A pseudodeficiency incidence in Turkey.

Pseudodeficiency (Pd) in arylsulfatase A (ASA) is a relatively frequent condition in healthy individuals. It produces a reduction in enzyme activity similar to that found in metachromatic leukodystrophy (MLD). A variable incidence of the Pd allele was found in different populations; it was 10-20 times higher than that of metachromatic leukodystrophy.

Neuronal migration disorders. Part II: Magnetic resonance imaging.

With the widespread use of magnetic resonance imaging (MRI), neuronal migration disorders (NMD), including lissencephaly, pachygyria, polymicrogyria, schizencephaly, unilateral hemimegalencephaly and gray matter heterotopia, are more frequently and easily diagnosed. When NMD is a diagnostic consideration, MRI should be the imaging method of choice with the high contrast between gray and white matter it provides and its high resolution multiplanar display of anatomy. Magnetic resonance imaging displays the size, configuration and distribution of cortical gyri and cortical thickness for the evaluation of possible lissencephaly, pachygyri and polymicrogyri.

Neuronal migration disorders. Part I: Terminology, classification, pathophysiology, EEG and epilepsy.

Intractable epilepsies and partial epilepsies, which make up a great majority of epileptic disorders, are not better recognized and their etiologies unveiled with the help of the new imaging techniques. The development of magnetic resonance imaging (MRI) permits the accurate diagnosis while the patients are alive of the neuronal migration disorders (NMD), which constitute an important group of intractable epilepsies. Previously, NMD cases were described by neuropathologists from autopsy materials, and many of these developmental disorders were not considered compatible with prolonged survival.

Sandhoff disease in the Turkish population.

Eighteen cases affected by Sandhoff disease were investigated by an enzymatic study of serum and leukocytes during the period 1988-1996, the clinical expression and enzymatic study were reported and discussed. An indirect minimum disease incidence was calculated in the Turkish population. Hexosaminidase activity in serum and leukocytes was severely deficient when measured by synthetic substrate 4-MU-N-acetylglucosaminide using the thermolabile fractionation procedure.

Cranial MR findings in Wilson's disease.

Purpose: To define various cranial MR appearances in Wilson's disease (WD).

Material And Methods: MR examinations of 30 patients (9-44 years old) with WD were retrospectively reviewed. Six patients were asymptomatic siblings.

Long-term follow-up of indirect hyperbilirubinemia in full-term Turkish infants.

Objective: This retrospective follow-up study was performed to evaluate the suitability of the recently reported exchange transfusion limits (serum indirect bilirubin level of 428-496 mumol/1, 25-29 mg/dl) for Turkey.

Material And Methods: The study groups totalled 102 children, 8-13 years of age, who had been born at term with birthweights greater than 3000 g and had been treated for indirect hyperbilirubinemia during their newborn period; the control group consisted of 27 children of the same age-group without indirect hyperbilirubinemia. Children were grouped according to their maximum serum and bilirubin levels and direct Coomb's test results.

Hypothalamic hamartoma with gelastic epilepsy, precocious puberty and polydactyly.

An entity including gelastic epilepsy, precocious puberty, polydactyly and a hypothalamic hamartoma type IIa is described in a 16-year-old female patient. Polydactyly was detected at birth, she developed precocious puberty at four years of age, and gelastic epilepsy was diagnosed at age seven. The precocious puberty was successfully treated medically and her treatment was discontinued at the age of 10 years, but the gelastic seizures were difficult to control.

Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: report of three cases in comparison with Canavan disease.

We report three cases of L-2-hydroxyglutaric acidemia and three cases of Canavan disease. The L-2-hydroxyglutaric acidemia cases are the first biochemically proven Turkish cases. Magnetic resonance imaging findings in the cases and similarities between the two diseases are emphasized.

Factor V Q 506 mutation in children with thrombosis.

The factor V Leiden mutation in 12-children with thrombosis and in 20 controls was investigated. Five heterozygous individuals and 1 homozygous individual among the cases with thrombosis and 1 heterozygous individual among controls were found. Central nervous system thromboses were increased in children with the factor V mutation, associated with protein S deficiency.

Functional significance of dystrophin-positive fibers in Duchenne and Becker muscular dystrophy.

In this study, the ratios of dystrophin-positive (+), partially deficient (+/-), and deficient (-) fibers were investigated immunohistochemically in 28 Duchenne muscular dystrophy (DMD) and 4 Becker muscular dystrophy (BMD) patients using Dys I (midrod), Dys II (COOH-terminal), and Dys III (NH2-terminal) antibodies. In the biopsies of DMD patients, Dys II was negative in all cases; the mean ratio of Dys I (+) fibers was 0.05%, Dys I (+/-) 1.

Cardiorespiratory function in Duchenne and Becker muscular dystrophy.

The purpose of this study was to investigate the cardiorespiratory function in Duchenne (DMD) and Becker muscular dystrophy (BMO) patients and to determine whether there is a correlation between these functions and muscular strength. The study involved 32 patients with progressive muscular dystrophy (28 DMD and four BMD). The mean age of the patients was 9.

Myasthenia gravis in childhood.

Clinical features, serum acetylcholine receptor antibody (AChRAb) titres and course were reviewed in a series of 25 congenital (CMG) and 30 juvenile (JMG) myasthenia gravis cases to recognize characteristics of childhood-onset myasthenia and its subgroups. The initial symptom for CMG is ptosis accompanied or followed by generalized weakness; myasthenic crises do not occur and spontaneous remissions are rare. In JMG, the distribution of weakness remains the same, but the severity fluctuates: spontaneous remissions (6 patients) and myasthenic crises (10 patients) are observed.

Molecular deletion patterns in Turkish Duchenne and Becker muscular dystrophy patients.

The dystrophin gene deletion patterns of Duchenne/Becker dystrophy were investigated in 57 DMD, 7 BMD and 1 DMD-BMD intermediate muscular dystrophy patients. Deletions, analyzed by multiplex amplification of selected exons, were observed in 58% (38 cases) of the patients. It was found that exon 48 was the most frequently affected, while exon 44 was the least frequently affected.

Multiple sclerosis in childhood: report of 16 cases.

Sixteen children with definite multiple sclerosis (MS; aged 6-17 years, mean 11.4 +/- 2.7; 8 boys, 8 girls) were reviewed.

Atypical EEG findings in subacute sclerosing panencephalitis.

A total of 72 EEGs from 57 patients with SSPE were studied. The EEG studies in SSPE revealed periodic high amplitude complexes in all except one. Besides periodic complexes, we found several atypical EEG findings including frontal rhythmic delta activity in intervals between periodic complexes, electrodecremental periods following EEG complexes, diffuse sharp waves and sharp-and-slow-wave complexes over frontal regions, and focal abnormalities, such as sharp wave and sharp and slow wave foci, which have been rarely reported previously.

Intestinal lymphangiectasia in a patient with Zellweger cerebrohepatorenal syndrome.

Zellweger cerebrohepatorenal syndrome (ZWCHRS) is an autosomal-recessive disease, characterized by the absence or profound deficiency of peroxisomes. We report a case of ZWCHRS with intestinal lymphangiectasia, observed as an autopsy finding. This combination is previously unreported.

A study on enzyme activities of some sphingolipidoses.

Enzyme activities were determined in fibroblast cell cultures of eight patients suspected of having a type of sphingolipidosis. The patients were 0 to 4 years of age; four were female and four were male. Thirteen age-matched controls were also included in the study.

Multiple sclerosis in a six-year-old boy (case report).

A 6-year-old boy with multiple sclerosis, youngest diagnosed in our hospital, is presented. In addition to the clinical findings, the diagnosis was supported by increased immunoglobulin levels, positive IgG index and oligoclonal bands in the cerebrospinal fluid, normal cranial angiography, typical lesions on the cranial computed tomography and magnetic resonance imaging.

Moyamoya disease and alternating hemiplegia. A report of two cases.

Moyamoya disease is one of the cerebrovascular disorders and is characterized by bilateral stenosis or occlusion of the distal internal carotid arteries and their main branches. Repeated ischemic episodes in children and intracranial hemorrhage in adults with moyamoya disease is usually noted. In this report, we describe two children with moyamoya disease who presented with alternating hemiplegia.