Megalencephalic leukoencephalopathy with cysts without MLC1 defect.

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disease characterized by early infantile macrocephaly and delayed motor and cognitive deterioration. Magnetic resonance imaging (MRI) shows diffusely abnormal and swollen cerebral white matter and subcortical cysts. On follow-up, atrophy ensues.

Prevalence of antiphospholipid and antinuclear antibodies in children with epilepsy.

Background: Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by recurrent venous thrombosis or arterial occlusive events and fetal losses associated with elevated levels of antiphospholipid antibodies (aPLs).

Material/methods: The presence of antinuclear, anti-beta2-glycoprotein I, and anticardiolipin antibodies were investigated in 60 consecutive children with epilepsy who were followed up in a single Hungarian center.

Results: Almost 50% (28/60) of the patients were ANA positive.

[Adrenocorticotropic hormone therapy in acquired childhood epileptic aphasia].

Although Landau-Kleffner syndrome, a childhood-acquired epileptic aphasia, is frequently studied either the underlying pathophysiology or the optimal therapy remained unknown. In our study we aimed to investigate the efficacy of ACTH therapy in Landau-Kleffner syndrome. We have analysed retrospectively the documentation of five children treated by ACTH, who suffered from Landau-Kleffner syndrome.

Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.

Nonketotic hyperglycinemia (NKH) is an inborn error of metabolism characterized by accumulation of glycine in body fluids and various neurological symptoms. NKH is caused by deficiency of the glycine cleavage multi-enzyme system with three specific components encoded by GLDC, AMT, and GCSH. We undertook the first comprehensive screening for GLDC, AMT, and GCSH mutations in 69 families (56, six, and seven families with neonatal, infantile, and late-onset type NKH, respectively).

Converging evidences on language impairment in Landau-Kleffner Syndrome revealed by behavioral and brain activity measures: a case study.

Objective: To assess the linguistic abilities of a boy having Landau-Kleffner Syndrome, and relate the focal disturbance of brain activity due to epilepsy to the cognitive and linguistic deficits.

Methods: Several kinds of assessments were carried out, including epileptic source analysis using electronic source localization methods and PET, neuropsychological assessment of cognitive functions, and assessment of speech perception skills (discrimination of phonetic and stress cues) using ERPs.

Results: The source of epileptic activity was localized in the left superior temporal lobe.

Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia.

Transient neonatal hyperglycinemia is clinically or biochemically indistinguishable from nonketotic hyperglycinemia at onset. In the case of transient neonatal hyperglycinemia, the elevated plasma and cerebrospinal fluid glycine levels are normalized within 2 to 8 weeks. To elucidate the pathogenesis of transient neonatal hyperglycinemia, we studied three patients by screening mutations in the genes that encode three components of the glycine cleavage system.

Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children.

Rhombencephalosynapsis is a rare congenital abnormality characterised by dorsal fusion of the cerebellar hemispheres, agenesis or hypogenesis of the vermis, fusion of dentate nuclei and superior cerebellar peduncles. We describe 9 children, aged 1.5 to 6 years, with rhombencephalosynapsis.

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.

Objective: To report three unrelated infants with a distinctive phenotype of Leigh-like syndrome, neurogenic muscular atrophy, and hypertrophic obstructive cardiomyopathy. The patients all had a homozygous missense mutation in SCO2.

Background: SCO2 encodes a mitochondrial inner membrane protein, thought to function as a copper transporter to cytochrome c oxidase (COX), the terminal enzyme of the respiratory chain.

Acid sphingomyelinase deficiency in Beckwith Wiedemann syndrome.

We report the association of Beckwith-Wiedemann syndrome (BWS) and a residual acid sphingomyelinase (ASM) activity of about 35% in a 23 months old Hungarian boy. Besides the classical triad of exomphalos, macroglossia and gigantism some other BWS-related features: polyhydramnios (known from the praenatal history), hemihypertrophy, craniofacial dysmorphy, a mild mental retardation, bilaterally undescended testes, cardiac anomalies and a terminally developed, fatal embryonal rhabdomyosarcoma were present in the patient. The decreased activity of the ASM was measured in the patient s skin fibroblasts.

Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

We have studied 23 children from 13 families with a clinical diagnosis of Aicardi-Goutières syndrome. Affected individuals had developed an early-onset progressive encephalopathy that was characterized by a normal head circumference at birth, basal ganglia calcification, negative viral studies, and abnormalities of cerebrospinal fluid comprising either raised white cell counts and/or raised levels of interferon-alpha. By means of genomewide linkage analysis, a maximum-heterogeneity LOD score of 5.

Brain stem evoked potentials in childhood neurological diseases.

This review article tries to highlight the most important information available at present on the use of brainstem acoustic evoked potentials (BAEPs) in child neurology. It lists the main original papers with considerable materials and discusses the main territories of use in child neurology according to the diagnosis. Particular emphasis has been placed on the neurodegenerative and neurometabolic disorders, asphyxia, head trauma, brain tumours, autoimmune NS diseases and evaluation of dizziness.

[Ito hypomelanosis (incontinentia pigmenti achromians)].

Authors report the case of a white male patient suffering from a rare neurocutaneous dysplasia. Macrocrania and right ventricular dilation of the brain were present at birth. Motor milestones were delayed and epilepsy with staring spells started at the age of 6 months.

[Late onset type I tyrosinemia].

The authors present a case of tyrosinemia type 1, 3 years old girl at the time of diagnosis. The presenting symptoms were 3 times colic, obstipation, acute encephalopathy, hypertension, hyponatremia, according to the porphyric crisis. Her kidney function tests gave normal results during illness, only once an increased calcium turnover was observed.

[Adrenoleukodystrophy].

7-year-old boy with adrenoleukodystrophy is presented with the typical clinical picture, biochemical findings and review of the literature. The obligate carrier status of the mother and the asymptomatic adrenoleukodystrophy of the 5-year-old brother are biochemically proved. Therapeutic regime of Lorenzo's oil has been introduced to the young brother, and the question of bone marrow transplantation is discussed.

[Low dose ACTH therapy in West syndrome].

Ten patients with infantile spasms were treated with low dose ACTH therapy during the last five years. The etiology, EEG, the clinical features and the efficacy of the treatment were found to be similar to the data published in the literature. The early diagnosis, etiological classification and the appropriate therapy of the disease were important to obtain a better outcome.

[Septo-optic dysplasia (de Morsier syndrome)].

Authors report a rare central nervous system malformation on giving account of three of their cases. The possibility of septo-optic dysplasia should be raised in children with unilateral or bilateral hypoplasia of the optic nerve. The use of neuroimaging technics is necessary for establishing the diagnosis.

[Non-ketotic hyperglycinemia].

Three children with non-ketotic hyperglycinaemia (NKH) is reported. Two patients had typical neonatal form of NKH, one patients had atypical form of NKH. The clinical symptoms laboratory findings and therapeutical approach are discussed.

[Neurologic complications of childhood malignancies].

The authors summarize the neurological complications of childhood malignancies based on their own experiences and review of the literature. The clinical features, the diagnostic methods of choice and the therapies are listed briefly.

The treatment of malignant scala posterior tumors in children: II. Preliminary result of the pre- and postoperative adjuvant chemotherapy of scala posterior tumors.

Ten children with posterior scala tumor infiltrating the surrounding brain substance and/or the brain stem entered in the present study with preoperative chemotherapy. In 8 of the 10 cases regression and necrosis of the tumor were seen by CT examination after the preoperative therapy. The diameter of the tumor decreased on the average by 35.

[Wernicke encephalopathy in childhood osteosarcoma].

Two children with osteosarcoma are presented in whom Wernicke encephalopathy with vomiting occurred during the chemotherapy. One of the children died with symptoms of toxic cardiomyopathy. Autopsy revealed Wernicke encephalopathy.

[Childhood dancing eye syndrome in occult neuroblastoma].

The case of a two year-old boy is described with dancing eyes syndrome (DES) together with ganglioneuroblastoma. Surgical removal of the tumour and ACTH therapy resulted in rapid improvement, and an almost symptome-free condition. The literature is reviewed.

Treatment of malignant scala posterior brain tumors in children: the chemotherapy of relapsed medulloblastoma with a dibromdulcitol containing drug regime and pharmacokinetic studies of dibromdulcitol in children.

Dibromdulcitol (Elobromol) has favorable pharmacokinetic parameters for the treatment of brain tumors: high spinal fluid/plasma ratio and long half-life in spinal fluid. Oral application makes its administration easy. The drug combination vincristine, procarbazine, and dibromdulcitol proved to be effective in a pilot trial on relapsed medulloblastomas: 8 complete and 4 partial remissions were achieved from 16 cases.