[Acute encephalopathy and recurrent hepatic steatosis with normal long and medium chain fatty acyl-CoA-dehydrogenase activity]. / Encéphalopathie aiguë et stéatose hépatique récurrentes avec activité normale de l'acyl-CoA-déhydrogénase des acides gras à chaîne longue et moyenne.

A boy suffering from recurrent episodes of acute encephalopathy and hepatic steatosis died at 40 months of age. The symptoms started when he was 13 months old and he appeared completely normal in the intervals. Pertinent biologic findings were as follows: slight labile hypoglycemia and hyperammonemia having no direct correlation with neurologic derangement, no elevation of ammonia levels in loading tests, complete failure to generate ketones and the absence of organic aciduria during a fast, normal plasma carnitine levels and normal activity of long and medium chain acyl-CoA-dehydrogenase in skin fibroblasts. Pertinent autopsy findings were marked steatosis of liver and renal tubular cells with many foamy histiocytes in bone marrow. An error in metabolic pathways, particularly a derangement in lipid metabolism, was considered.

[Flaccid paraplegia caused by spinal cord compression disclosing Wilms' tumor in a 12-year-old child]. / Paraplégie flasque par compression médullaire révélatrice de tumeur de Wilms à l'âge de douze ans.

Flaccid paralysis with spinal cord compression led to discovery of Wilm's tumor with multiple subcutaneous and bone metastases in a 12 year-old child. Intraspinal seeding of Wilm's tumor by hematogenous route or direct extension is extremely rare and usually appears late in the course of therapy. Bone metastases are also rare and are frequently seen in the sarcomatous form of the tumor which involves the vertebral column and differential diagnosis with bone metastasizing renal tumor of childhood (BMRTC) should be considered.

[Coexistence of late spondyloepiphyseal dysplasia and congenital megaloblastic anemia with proteinuria in the same family]. / Coexistence d'une dysplasie spondylo-épiphysaire tardive et d'une anémie mégaloblastique congénitale avec protéinurie dans la même famille.

A case of spondyloepiphyseal dysplasia tarda was noted in a dwarf (130 cm tall) 18 years old boy associated with congenital megaloblastic anemia and proteinuria. His two sisters and a cousin are also suffering from similar hematologic disorder. One of his brothers, 145 cm tall, is also involved by spondyloepiphyseal dysplasia, but there is no known hematologic abnormalities. Review of family history revealed that two aunts from mother's side were deceased in adulthood following a chronic anemic disease. The findings in this anemia are compatible with Imerslund-Grâsbech syndrome and coexistence of these two rare genetic disorders in a single family has not been reported previously.

[Acute hemiplegia due to cerebral artery occlusion in children. Apropos of 9 cases]. / Hémiplégie aiguë par l'occlusion des artères cérébrales chez l'enfant. A propos de neuf observations.

The cerebral arterial occlusion was observed from nine patients aged from 2,5 to 12 years old, between 37 children with acute acquired hemiplegia. The thrombosis had an embolic origin in three cases of cardiopathy. Six patients had primary arterial occlusion, but all these patients were febrile and the onset of hemiplegia was accompanied by seizures in five cases. The site of arterial was demonstrated by the angiography in eight cases: cervical internal carotide in one case of cardiomyopathy, intracranial portion of the internal carotide in four cases, middle and anterior cerebral artery in three cases. The regression of hemiplegia was observed in all but one case of atrial myxoma. The autopsy of this patient revealed renal and hemispheric cerebral arterial thrombosis with myxoma embolus.