Recurrent episodes of coma: an unusual phenotype of familial hemiplegic migraine with linkage to chromosome 1.

Over a period of ten years, a boy had several episodes of coma, lasting three to five days. Each episode was preceded by hemiparesis or paresthesias, aphasia, headaches and behavioural changes, with subsequent loss of consciousness. Partial seizures occurred during the first episode. A history of migraine or hemiplegic migraine was found in several members of the family. Linkage to chromosome 1q21-23, where a gene for familial hemiplegic migraine has been mapped, was shown in this family.

Merosin positive congenital muscular dystrophy with mental deficiency, epilepsy and MRI changes in the cerebral white matter.

A girl born from consanguineous Turkish parents had marked hypotonia from birth and delayed milestones. She was able to stand unaided by 3 years of age with then progressive worsening of motor abilities. She had a severe non-progressive mental deficiency. Epilepsy occurred by 6 years of age. Ophthalmological investigation was normal. A marked white matter high signal was seen on magnetic resonance imaging without cortical dysplasia. Dystrophic changes were seen on muscle biopsy. Two brothers had had a similar history with early death. Muscular immunocytochemical studies showed a normal staining for dystrophin and all dystrophin related glycoproteins (including 43 and 50 DAG). Merosin staining was normal. This case differs from Fukuyama's congenital dystrophy, from merosin negative congenital muscular dystrophy, or from other congenital muscular dystrophy with CNS dysfunction. It underlines the heterogeneity of congenital muscular dystrophy and the non-specific aspect of white matter changes on neuro-imaging.

[Vascular complication disclosing lung cancer in children]. / Accident vasculaire chez l'enfant révélant un cancer pulmonaire.

Stroke are not as rare in pediatric patients as once suspected. Exhaustive diagnostic evaluation must be performed, to identify a cause, evaluate risk factors of recurrence and propose preventive treatment. We report a case in a teen-ager secondary to cerebral embolism. These embols have an exceptional origin: pulmonary venous thrombosis, secondary to undifferentiated sarcoma located in the lung and extended to pulmonary vein. Stroke by cerebral embolism are not always originated from heart disease, and may be misdiagnosed only transthoracic echocardiography is realised.

[Schizencephaly and upper limb malformation]. / Schizencéphalie et malformation du membre supérieur.

BACKGROUND: Schizencephaly, a failure of the cerebral mantle to form is usually unilateral and not associated with anomalies of the controlateral limbs. We present two cases associated with such anomalies. CASE REPORTS: Case no 1. A boy born with a lobster claw deformity in the right arm. His IQ was 60 and he developed generalized seizures at the age of 4 years with spastic diplegia. MRI examination showed unilateral left schizencephaly also lined with pachygyric cortex. Case no 2. A girl was born with a right ectromelic-hand and developed left spastic hemiparesy. Her IQ was normal. She had a generalized seizure at the age of 11 years. MRI showed unilateral right schizencephaly also lined with pachygyric cortex and heterotopic periventricular gray matter. DISCUSSION: Schizencephaly seems to be due to localized ischemia in the periventricular germinal matrix during the 7th week of gestation. The limb deformity could be explained by the same vascular mechanism in the first case but not in the second one since it was homolateral to brain damage. CONCLUSION: Description of further cases is necessary to understand this association. We suggest MRI examination of brain in patients with limb deformity associated with neurological damage.

[Idiopathic pericerebral swelling (external hydrocephalus) of infants]. / Epanchements péricérébraux idiopathiques (hydrocéphalie externe) du nourrisson.

Benign enlargement of the subarachnoid spaces was diagnosed in 41 infants on the basis of ultrasound and/or CT scan findings. 10 MHz transfontanellar ultrasonography is without doubt the most reliable investigation in this condition (skull-to-cortex distance greater than 5 mm). Patients with extracerebral collections due to a clearly identifiable pathologic process (e.g., prematurity, IUGR, neonatal distress, malnutrition) were excluded from the study. Macrocrania developed rapidly in 72% of patients, either as the single manifestation (30%) or with delayed motor development and hypotonia (30%). Other clinical patterns included evidence of intracranial hypertension (15%) and hypotonia without macrocrania (20%). The two main findings of this study were the high rate of familial forms and the severity of early hemorrhagic complications, i.e., spontaneous subdural hematoma (5/41 cases), with permanent neurologic impairment in some instances (2/5 cases). These complications call into question the benignity of this syndrome whose long-term outcome, particularly in terms of cognitive function, is as yet unknown.

[Rett syndrome. A report of fifteen cases]. / Le syndrome de Rett. A propos de quinze observations.

In its typical form, Rett syndrome is characterized by the development, towards the end of the first year of life, of neurologic abnormalities in a formerly healthy girl. Our analysis of 13 observations of "classical" Rett syndrome shows that the most common findings include cognitive regression, autistic behavior, hypotonia, apraxia, and very suggestive stereotyped movements. Two other cases emphasize the problems raised by mild, atypical or incomplete forms. At present, there is no biological or morphological marker for this syndrome whose pathophysiology is unknown. Increased levels of beta-endorphins in the cerebrospinal fluid may prove to be a marker and suggests therapeutic possibilities.