[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.

[Giant bronchogenic cyst in a newborn infant]. / Kyste bronchogénique géant du nouveau-né.

A 12 hour old newborn suffering from respiratory distress was found to have a well defined opaque mass in the right lung. The mass was well tolerated up the 33rd day of life when he developed acute respiratory distress, the upper respiratory tract being flooded with secretions. Chest X ray showed that the mass had disappeared and that there was a large cystic structure instead. A bronchogenic cyst was excised successfully from the right middle lobe. The early clinical manifestations of this bronchogenic cyst and the radiologic findings are discussed.

[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.

[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.

[Pulmonary involvement in Schonlein-Henoch's purpura]. / Manifestations pulmonaires du purpura rhumatoïde de Schonlein-Henoch, chez un enfant de huit ans.

A case of vascular purpura was observed in a 8 year-old girl. The clinical symptoms and pathological findings in kidneys and skin were compatible with Henoch-Schonlein syndrome. She presented with dyspnea and frequent acute pulmonary failure and the chest X-ray showed changing pulmonary infiltration. Despite treatment with corti-costeroids and cyclophosphamide, she died after 16 months. Pulmonary alveolar oedema, focal interstitial fibrosis and arterial fibrinoid thrombosis were found at autopsy. There was neither collagen lesion, nor fibrinoid necrosis.

[Hemorrhagic hypertrophic gastropathy in a child. A 15 year follow-up]. / Gastropathie hypertrophique et hémorragique de l'enfant, avec une évolution de quinze ans.

A 7 year-old boy with hypertrophic gastropathy and anemia is described. He was given a substitutive therapy and was under regular control. Upper G.I. bleeding disappeared when he was 15 but hypochlorhydria, radiologic changes and hyperplasia of mucus-secreting cells persisted up to the 22nd year of life. Transient intestinal metaplasia of fundic mucosa was found at 16. Several of these findings are similar to those in Menetrier's disease in adults.