Focal cortical dysplasia type 1b as a cause of severe epilepsy with multiple independent spike foci.

To investigate the clinical picture, the neurophysiological pattern, and neuropathological features of a young woman with severe drug-resistant epilepsy of unknown cause. We used the patient's clinical records from the age of 2 to 20years including neurophysiological patterns recorded via both scalp and cortex electrodes and results of studies conducted on the brain neuropathological specimen. The patient, with severe mental/psychomotor retardation, suffered from severe epilepsy from an early age, characterized by daily seizures of multiple types (atypical absences, tonic, and complex partial seizures), high frequency, and intractability.

Hypohidrotic ectodermal dysplasia and intrathoracic neuroblastoma.

We report a 6-year-old girl with a subtle form of hypohidrotic ectodermal dysplasia and a phenotype consisting of curly hair, a round face, a stocky build, and obesity, which was associated with intrathoracic neuroblastoma. Although this new association could be a chance occurrence, its description may alert physicians to look for similar combinations and report these, as it may lead to better syndrome delineation, and patient care.

Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G.

We report a unique combination of symptoms in a case of Kabuki syndrome (KS), a multiple malformation/mental retardation syndrome that has a prevalence of 1:32,000 to 1:86,000. The patient was a mentally delayed 12-year-old male with trichrome vitiligo, ectodermal defect, and hypogammaglobulinemia A and G. This unique combination of signs, described here for the first time, indicates that KS comprises multiple deficits that affect not only the brain, but ectoderm-derived structures and the immune system as well.

Familial robertsonian 13;14 translocation with mental retardation and epilepsy.

Familial reports of a robertsonian translocation in more than two generations are rare. We report three generations (a daughter, the mother, and the mother's father) with a heterozygous, balanced robertsonian translocation t(13;14)(q11;q11). Central nervous system disease was present, but differentially expressed, in generations I and III.

A child with vestibular neuritis. is adenovirus implicated?

Vertigo in children is relatively under examined in the literature. Among its causes, vestibular neuritis (VN) represents only 2% of cases, with its etiology remaining unknown. We report for the first time a 4-year-old boy with vestibular neuritis and serological results compatible with adenoviral infection.

Magnesium profile in autism.

The aim of the present study was to determine and compare plasma and erythrocyte concentrations of magnesium in 12 autistic children (10 boys, 2 girls), 17 children with other autistic spectrum disorders (14 boys, 3 girls), 5 girls with classic Rett syndrome, and 14 normal children (7 boys, 7 girls) of the same age. No differences in intracellular Mg were found between controls and pathological subjects; however, autistic children and children with other autistic spectrum disorders had significantly lower plasma concentrations of Mg than normal subjects (p=0.013 and p=0.

Myoclonic encephalopathy in the CDKL5 gene mutation.

Objective: Epilepsy with mutation of the CDKL5 gene causes early seizures and is a variant of Rett syndrome (MIM (312750), which is reported typically as infantile spasms. The purpose of this study was to analyze the epileptic histories and EEGs of patients with the CDKL5 mutation.

Methods: We reviewed the epilepsy histories and electroclinical analyses of three girls aged 9.