[Infantile gangliosidosis GM2 type B or Tay-Sachs disease].
Explore the source record for details and available documents.
Biomedical subjects
Publications and source records attributed to B Bennaceur.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
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.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
The authors report a retrospective study of 98 cases of idiopathic thrombocytopenic purpura in children. The sex ratio was 1/1 and the mean age 5 years. A history of viral infection preceded the purpura in 45% of the cases. Sudden onset was observed in 81%. The platelet count was less than 20,000 mm3 in 78.5%. A follow-up was obtained in 79 patients: 76% had an acute disease. A spontaneous remission occurred in 88.6% of the cases, most of them in the first six months (49 cases/68), and in 10 cases/68 between 7 and 11 months after onset. Six patients presented one or two relapses prior to recovery. The illness became chronic in 11% of the patients despite prednisone therapy. Four patients were treated by splenectomy, in 3 cases with success. Two children died, one girl from cerebral haemorrhage and one boy from septicemia.
The authors report the case of a 7 year-old boy, in whom a mycotic aneurysm of the lobar inferior left pulmonary artery had been found in the course of a staphylococcal endocarditis of the tricuspid valve. Surgical removal of the aneurysm was followed by a thrombosis of this artery. This is a rare complication after infective endocarditis. Analysis of literature data shows that the rupture of these aneurysms frequently occurs; therefore, systematic surgical treatment is recommended whenever the anatomic conditions make it possible.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
The authors report a new form of metaphyseal chondrodysplasia revealed in a 5 1/2 year-old boy with seizures. This disorder associated coxa vara, large terminal phalanges, bilateral cataracts and severe mental deficiency. Both parents were healthy, suggesting autosomal recessive transmission. There is no associated calcium phosphate metabolism disorder. An enzymatic abnormality might be the cause of the bone, ocular and neuronal lesions.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
8 healthy subjects have eaten in the morning, after an overnight fast, in two separated occasions and in a randomised order 50 gr of CHO as pasta or couscous. Blood glucose after pasta ingestion was lower at 30 mn (p less than 0.05) at 45 mn (p less than 0.01) and at 60 mn (p less than 0.05). Area under the curve after pasta was significantly reduced (p less than 0.01). In a second time 6 IDDM patients have eaten in a randomised order a meal made of pasta with tomato sauce (P = 11%, F = 30%, G = 59%) or couscous with vegetables and sauce (P = 10%, F = 37%, G = 53%). Blood glucose after the pasta was lower than couscous at 90 mn (p less than 0.05) the area under the curve after the pasta ingestion was reduced of 38% but did'nt reach significance. In conclusion couscous has a higher glycemic effect than pasta although it has a similar composition. This phenomenon is still observed when the cereal products are mixed with other foods and ingested by IDDM patients.
Two cases of a new type of hereditary chondrodysplasia are reported. The main features were: severe dwarfism, progressive scoliosis and bilateral dislocation of the hip. A neurosensory type of deafness with retinitis pigmentosa was also present. Radiographs showed diffuse osteoporosis, severe retardation of bone-age and dysplasia of the femoral head. There was no associated metabolic abnormality. The disease seems to have a dominant autosomal pattern of inheritance with a variable degree of penetrance.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
This study reports the case of a 5 1/2 year-old boy with congenital adrenal hyperplasia (11-beta-hydroxylase deficiency) and bilateral testicular hypertrophy. Microscopic and ultrastructural examinations did not show any nodular tumor or crystalloids or Reinke. However, interstitial cell hyperplasia was present which may have resulted in testicular enlargement. The patient had a younger brother also presenting with 11-beta-hydroxylase deficiency but with bilateral cryptorchidism. This suggests that ACTH hypersecretion alone is unlikely to be responsible for testicular enlargement.