[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.

[Thromboangiitis obliterans and distal gangrene in a 5-year-old child]. / Thromboangéite oblitérante et gangrène distale chez un enfant de 5 ans.

Distal gangrene associated with arterial hypertension but without systemic manifestations or muco-cutaneous eruptions was noted in a 5 years old child. Gangrene first appeared in toes and then in fingers. Progression in a 7 months period led to bilateral midleg amputation and amputation of several fingers. Angiography revealed complete obliteration of popliteal and humeral arteries by thrombi and histologic examination of amputated material showed organized thrombi with phlebothrombosis and without vasculitis. Biopsies of liver, lung, kidneys and skin were unremarkable and immunofluorescence studies with various antisera were negative. Also no contributing factor or etiologic agents were found, similarities to adult type Buerger's disease are striking. Vasodilators were of no help and bilateral lumbar and cervical sympathectomy could only demarcate the already present gangrene.

[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.

[Diffuse cutaneous vasculitis disclosing acute lymphoblastic leukemia]. / Vascularite cutanée diffuse révélatrice d'une leucémie lymphoblastique aigüe.

Biopsy of skin for etiologic evaluation of generalized erythematous eruptions in a 4 1/2 years old child, starting four months ago, led to diagnosis of acute lymphoblastic leukemia. Leukocyte counts five and eight weeks and four months after appearance of eruptions were normal and no blasts were found. A leukocyte count performed simultaneously with biopsy of skin also showed few (less than 10%) blasts. Histologic examination of skin revealed two types of pathologic lesions: a perivascular cuffing of lymphoblasts and a leukocytoclastic type of small vessel vasculitis in other parts. This type of vasculitis which have been reported in association with chronic lymphocytic and hairy cell leukemias, is uncommon in acute lymphoblastic leukemia.