[Recessive osteopetrosis. Identification of a form of medium severity]. / La forme récessive de l'ostéopétrose. Individualisation d'une forme de gravité intermédiaire.

BACKGROUND: Several distinct forms of osteopetrosis have been identified. Some of the autosomally recessive inherited forms are benign, much like the autosomal dominant form. Others are more malignant. PATIENTS: The clinical data, skeletal radiographs, histological features and histories of 32 children with osteopetrosis were analyzed retrospectively. RESULTS: The 32 patients, belonging to 20 sibships were divided into two groups. The first group included 24 patients, aged 1 day-11 months (mean 4.5 months), suffering from hepatosplenomegaly, anemia, thrombocytopenia and optic atrophy in early infancy. They also had a generalized increase in bone density, abnormal bone remodeling, rachitic lesions and a "bone-within-bone" appearance. Biopsies showed severe bone resorption and myelofibrosis. 19 of the 20 patients whose outcomes were known died during the first year of life. The second group included 8 patients, aged 40 days-3 years (mean: 11 months). Hepatosplenomegaly appeared later, anemia was less severe and thrombocytopenia occurred in only 1 patient. However, all 8 patients suffered from optic atrophy and 3 were deaf. Radiographs showed bone growth without rachitic lesions. Biopsies from 2 patients showed bone resorption, but no myelofibrosis. The outcome was less severe: 6 patients, now aged 8 months to 8 years, have survived, 3 of them for over 5 years. Genetic investigation showed patterns compatible with autosomal recessive inheritance in both groups, with similar sets of features within each sibship. CONCLUSION: This study reveals a new type of recessively inherited osteopetrosis. It can be classified as an intermediate form, distinct from both the malignant and the benign forms, and also distinct from osteopetrosis with carbonic anhydrase II deficiency.

[Hemiballism. Description of a clinical case in childhood]. / Paraballisme. Description d'un cas clinique chez l'enfant.

Biballism is an infrequent hyperkinetic disorder characterized by involuntary, intermittent, violent, uncontrollable contractions of the proximal muscles of the limbs. Biballism is classically ascribed to a lesion in the controlateral subthalamic nucleus or its connections but other causes have been reported. These include infections (bacterial, viral parasitic), cerebrovascular lesions, tumors, toxics, and systemic disease (systemic lupus erythematosus). Although poorly understood, the pathophysiology of hemiballism is widely believed to involve hyperactivity of the dopaminergic system. The prognosis of these abnormal movements, formerly poor, has been improved by the use of neuroleptics and drugs acting on the different neurotransmitter systems. A unique case of biballism at resolution of a febrile coma in a 4 1/2 year old is reported. The EEG showed diffuse slow waves. A hyperdense lesion was visible in the right thalamic region on the cerebral CT scan. The magnitude of the abnormal movements decreased under haloperidol. The etiology of this case of biballism is discussed.

[Budd-Chiari syndrome in children. Apropos of 7 cases]. / Le syndrome de Budd-Chiari chez l'enfant. A propos de 7 observations.

Seven cases of Budd-Chiari syndrome are reported in children. The mode of onset was fulminant in one case with rapidly lethal liver failure, acute in 5 cases with rapid appearance of hepatomegaly and ascites and insidious in one case, with isolated hepatomegaly. Hepatomegaly, which is a constant sign, was present in the 7 patients. Ascites and collateral venous circulation were present in 6, splenomegaly in 2 and moderate jaundice in one only. Liver function tests, deeply abnormal in the patient with fulminant liver failure, was only slightly abnormal in the 6 others. Diagnosis was corroborated by ultrasonography, cavography, hepatic veins angiography and liver biopsy in 6 patients and by post mortem examination in the 7th. Etiologic investigations did not allow finding the cause of Budd-Chiari syndrome. However, this series can be distinguished by associated total villous atrophy in 3 cases, psoriasis in one, hepatitis B in one, hepatitis A and intestinal giardiasis in one. Portasystemic shunts were performed in 3 patients. One died in the immediate postoperative period, the 2 others are presently in good health with a 5 and 6 1/2 year-follow-up. One patient died rapidly from fulminant liver failure. Another, untreated, died 16 years after the onset of the disease, from an unknown cause. Two patients are lost to follow-up.

[Asphyxiating thoracic dysplasia associated with hepatic ductal hypoplasia, agenesis of the corpus callosum and Dandy-Walker syndrome]. / Dystrophie thoracique asphyxiante de Jeune associée à une hypoplasie ductulaire hépatique, une agénésie du corps calleux et un syndrome de Dandy-Walker.

The authors report on a case of a newborn with asphyxiating thoracic dysplasia who died 36 h after birth. This chondrodysplasia was associated with hepatic ductular hypoplasia, agenesis of the corpus callosum and Dandy-Walker malformation. To our knowledge, such an association has not previously been reported in the literature.

[Transient dilatation of intra- and extra-hepatic bile ducts. A case]. / Dilatation transitoire des voies biliares intra- et extrahépatiques. Une observation.

A case of transient dilatation of intra and extrahepatic bile ducts in the course of an infectious disease is described in a three-year-old girl. The ultrasonic bile duct abnormalities disappeared after three months. The mechanism involved remains uncertain; the hypothesis of a transient inflammatory obstruction is evoked.

[Cardiac failure caused by arteriovenous malformation in the area of Galen's vein. Treatment by endovascular embolization]. / Insuffisance cardiaque secondaire à une malformation artério-veineuse de la région de l'ampoule de Galien. Traitement par embolisation endovasculaire.

The authors report a case, in a 7-month-old girl, of cerebral arteriovenous malformation with a vein of Galen ectasia, complicated by a congestive heart failure and hydrocephalus. The clinical diagnosis was carried out by fontanelle auscultation and confirmed by: cerebral echography. Döppler exploration, computerized tomography and cerebral angiography. A cerebral embolization permitted reduction of cardiac insufficiency and stabilisation of the hydrocephalus.