The authors have studied the bases of the clinical and CT diagnosis of cerebral arterial occlusion in children from a series of 16 cases. The sequential evolution of the CT appearance seems characteristic depending on the time elapsed since the onset. Contrast enhancement, concerns mainly the grey matter, is maximum during the second and third weeks and should be looked for during this period. The aetiology remains usually hypothetic. Some data, including the angiographic aspect of "endarteritis" may suggest an infectious pathogeny.

Adolescent↗

PubMedDate not supplied

[Ataxia-opsoclonus-myoclonus syndrome].

The ataxia-opsoclonus-myoclonus syndrome that was well individualized by Kinsbourne is mostly observed in young children (less than three years old in 90 percent of the cases). From six personal cases, and from a review of ninety cases of the literature, the clinical and etiological features, as well as the evolution of the syndrome, are studied. Prodromes (infectious and digestive manifestations) and comportmental changes usually precede the sudden onset of the clinical triad. Neurologic complementary investigations are typically normal during the acute phase. The frequent association (46 percent of the cases) of this syndrome to a neuroblastoma (usually thoracic) makes it very particular from the etiological point of view. The evolution is identical whatever the type ("isolated" or "tumoral"). Corticotherapy (ACTH or corticoids) is efficient in 60 percent of the cases. But recurrences and cerebral sequelae (mental deficiency and speech disorders) are frequent.

Adrenal Cortex Hormones↗

PubMedDate not supplied

[Petit mal in children and adolescents].

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Adolescent↗

PubMedDate not supplied

[Generalized epilepsy disclosing medium-chain-acyl-CoA dehydrogenase deficiency].

BACKGROUND: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited defect of fatty acid beta-oxidation. As it causes life-threatening symptoms, it is mandatory to diagnose deficiencies of this enzyme in families. CASE REPORT: A boy was admitted at the age of 3 months because of a recent attack of generalized seizures. His parents were second cousins and one of his 2 sisters, 6 years old, suffered from epilepsy. At admission, the patient had moderate hepatomegaly; he was given clonazepam and phenytoin because of persistent status epilepticus. He developed a fever (temp.: 39 degrees) and a rash 24 hours later. A viral etiology was suggested by CSF contents of 104 cells/mm3 and 1 g/l protein. The patient was given aciclovir. Blood glucose, transaminases, ammonia, lactate, pyruvate and amino acids levels were normal. Analysis of urine by GC-MS revealed a large lactate peak and dicarboxylic acids, unsaturated dicarboxylic acids, hydroxyhexanoate, 7-hydroxyoctanoate, hexanoylglycine and suberylglycine. This profile indicated a MCAD deficiency. The plasma contained partially oxidized medium-chain fatty acids, such as octanoic acid and especially 4-decenoic acid. the diagnosis was confirmed by a phenylpropionate loading test and specific enzyme assay in fibroblasts. Molecular studies identified a G 985 mutation in the patient and revealed that the parents were heterozygotes for the mutation. The condition of the patient at the age of 18 months is excellent; he has a regular, adequate caloric intake and avoids fasting. He has not taken anti-epileptic drugs for the past 6 months. CONCLUSION: There is no typical clinical presentation of MCAD-deficiency; the most frequent features are vomiting and lethargy. Episodic hypoglycemia has been reported, but hypoglycemia was not found in our patient. Molecular studies will allow neonatal diagnosis of the next affected siblings.

Acyl-CoA Dehydrogenase↗