Leucoencephalite aigue du nourrisson traitee par fortes doses de corticoids

The authors report a case of acute post infectious leukoencephalitis observed in a two-years and a half child admitted to our hospital for fever with sudden condition deterioration, obnibulation, coma and paralysis of the 6th and 7th cranial nerve. Cerebrospinal fluid study showed lymphocytosis with negative culture. Head magnetic resonance imaging demonstrated diffuse high signals over the white matter on T2 weighted images so the diagnosis was confirmed. High dose corticosteroid therapy was effective

[Osteopetrosis with carbonic anhydrase II deficiency: about 24 cases]

Twenty four patients suffering from osteopetrosis caused by carbonic anhydrase II deficiency are colliged. This pathology seems to be frequent in Tunisia. Mental retardation is present in 52%, 85% of patients have short stature and 25% have optic atrophy. All affected subjects show craniofacial disproportion and dental anomalies. Twenty patients have at least one bone fracture. Metabolic acidosis is constant: it is profound during the first life decade. A severe selective reduction of carbonic anhydrase II in erythrocyte is confirmed in 18 cases. Osteosclerosis and defective skeletal modelling are constant, cerebral calcification can be seen at the scanner approximately at the age of two years and six months. All patients are homozygous for a splice junction mutation in intron 2 of the carbonic anhydrase II gene, this mutation doesn't seem to protect patients from bone fractures nor to induce a severe metabolic acidosis

[Pulmonary alveolar proteinosis in two siblings. A case report]

Pulmonary alveolar proteinosis [PAP] is a rare disorder in children. This report describes two siblings in whom PAP developed during infancy [three years for the boy and four years two months for the girl]. The girl was admitted for chronic respiratory distress. Chest x-ray showed a reticulonodular pattern. Her brother was asymptomatic. The diagnosis of PAP was confirmed by open lung biopsy for the boy and broncho-alveolar lavage for the girl. Therapeutic broncho-alveolar lavages were performed [six for the girl and two for the boy], the girl lost dependence on oxygen therapy. 6 years later, the brother is still asymptomatic. The sister had two episodes of respiratory distress, after two and four years, that required therapeutic lavages. The last therapeutic broncho-alveolar lavage was performed for the first time by a Tunisian team