Biomedical subjects
Publications and source records attributed to A Harbi.
We report 3 cases of juvenile myasthenia in 2 girls and 1 boy, who at onset, were respectively 21 months, 13 yr and 4 and a half yr old. Clinical features were common but in 2 cases included acute respiratory failure leading to artificial ventilation. Thymectomy was performed in 1 girl with thymoma who presented a vitiligo 5 yr later.
Cyanosis with digital clubbing and a systolic murmur were found in a five and a half-year-old. The usual causes of cyanosis, including congenital heart disease, were discussed. Correct diagnosis was, however, arteriovenous aneurysm of the lung which was seen on the pulmonary angiogram. The lung density on chest films and lack of echocardiographic evidence of congenital heart disease might have suggested this infrequent malformation. Permanent cure was achieved by removing the lower and middle lobes of the right lung.
Of all the storage diseases, mucopolysaccharidosis is the one whose cardiac manifestations are probably the least well known. Clinical and above all echocardiographic findings of heart involvement were studied in 8 patients with mucopolysaccharidosis, including four with Hunter disease. The paucity of clinical manifestations was in sharp contrast with the highly informative echocardiographic results. Valvular dystrophy, usually of the left side of the heart, was the most common anomaly, with five patients affected. Whereas some valvular lesions had no consequences, others led to stenosis or incompetence. Asymmetrical hypertrophy of the septum was found in one patient. No patient had evidence suggestive of vascular involvement, in particular of the coronary arteries.
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.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
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.
Explore the source record for details and available documents.