[Primary hyperparathyroidism revealed by pseudomyopathia]. / Pseudomyopathie révélant une hyperparathyroïdie primitive isolée.

We report the case of an 11-year-old child with delayed development who developed signs of exercise-induced pain in the lower limb muscles after an acute attack of appendicitis. He had difficulty standing up from the sitting position and ascending and descending stairs. The physical examination revealed increased reflex activity in the lower limbs. Initially, blood tests, MRI and EMG were normal. Serum phosphorus and calcium were not assayed. Eight months later, the boy's condition worsened (myopathy gait, hyperlordosis) leading to the possible diagnosis of muscle disease. After muscle biopsy, blood tests revealed hypercalcemia at 3.5 mmol/l (normal 2.2-2.6), hypercalciuria, and hypophosporemia. The diagnosis of primary hyperparathyroidism was confirmed by the abnormal level of parathormone initially (19 ng/ml) and later (156 ng/ml) with hypercalcemia. Medical treatment failed and surgery was performed to remove three and a half parathyroid glands. After removal, blood tests returned to normal in six days and the physical examination in three years. The diagnosis of principal cell hyperplasia was retained at the pathology examination. We found no evidence of hypercalcemia or other endocrinopathy such as multiple endocrine neoplasia (MEN 1 or 2a). Study of the menine gene did not reveal any mutation. Muscle dysfunction suggest possible abnormal phosphocalcium regulation. A normal parathormone level with hypercalcemia reveals inappropriate synthesis and secretion.

[Severe neonatal hyperthyroidism which reveals a maternal Graves' disease]. / Hyperthyroïdie néonatale sévère, révélatrice d'une maladie de Basedow maternelle.

Two of every thousand pregnancies are complicated by Graves' disease. Diagnosis is suggested by maternal disorders (tachycardia, exophthalmia, weight loss.) or fetal disorders (tachycardia, intra-uterine growth retardation, preterm birth.). Due to transfer into the fetal compartment of maternal antibodies which stimulate the fetal thyroid by binding to the thyroid thyrotropin (TSH) receptor, only 1% of children born to these mothers are described as having hyperthyroidism. Neonatal thyrotoxicosis disappears with clearance of the maternal antibodies; clinical signs usually disappear during the first four Months of life. The most frequent neonatal clinical signs of thyrotoxicosis are tachycardia, goiter, hyperexcitability, poor weight gain, hepatosplenomegaly, stare and eyelid retraction. Diagnosis is based on determination of the blood level of triiodothyronine (T3), thyroxine (T4) and TSH. To confirm the nature of hyperthyroidism, thyroid-stimulating immunoglobulins (TSI) should be assayed. The kinetics of TSI provides a guide for therapeutic adaptation and disappearance of TSI is a sign of recovery. Rare cases of familial non-autoimmune hyperthyroidism have been shown to be caused by germline mutation of the thyrotropin receptor. We report a case of severe neonatal hyperthyroidism which led to the diagnosis of maternal Graves' disease.

[Adoption and chronic hepatitis B carrier state]. / Adoption et portage chronique du virus B.

AIM: Because there are few adoptable children in France, parents, for the last 20 years, have turned to international adoption. Alerted by the generally poor health of these children, we paid particular attention to their health problems and especially to infection by hepatitis B virus (HBV). POPULATION AND METHODS: The 60 internationally-adopted children seen from June 1993 to June 1997 were included in this study. All had hemogram and serum iron dosage, and search for intestinal parasites and tuberculosis was performed in each child, as were HBs antigen and HBs antibody screening. When HBs antigen was positive, HBe antigen and antibodies, HBV DNA and hepatitis C and delta serology were also studied. RESULTS: Six out of the 60 children were HBV chronic carriers. The six presented HBs antigen and five out of the six presented viral DNA. One child was co-infected with delta virus. Serum aminotransferase was normal in three children and increased in the three others. DISCUSSION: Some internationally adopted children are exposed to chronic infection by HBV. This concerns children coming from countries known for the high frequency of the disease, but also children with long stay in Eastern European nurseries. Chronic HBV carriage puts the child, as well as the family and other children in institutions and/or schools at risk, thus necessitating preventive measures.

[Idiopathic thrombocytopenic purpura: long-term outcome]. / Purpura thrombopénique idiopathique chez 87 enfants: évolution à long terme.

BACKGROUND: Idiopathic thrombocytopenic purpura (ITP) has usually an excellent prognosis even when no specific therapy is given. We studied, in 1996, the outcome of 87 patients with ITP observed between 1973 and 1995. PATIENTS AND METHODS: These 87 cases represented all the thrombocytopenic purpura observed during 23 years in the same pediatric unit not specialized in hematology. The outcome of these children was investigated in 1996 by phone or writing to the patients themselves or to their physician. Adequate information was obtained for 63 patients (72.4%). RESULTS: Two cerebral hemorrhages were observed, one was lethal while the other, observed after several years of course, healed completely. All these patients became free from clinical signs but 11 were not cured in 1996. None of these 63 patients had developed autoimmune disease. One patient died in a traffic accident, his thrombocytopenic purpura had been cured. CONCLUSION: In spite of two cerebral hemorrhages, ITP remains in the great majority of cases a benign disease not requiring grave therapeutic decisions.

[Giant cell hepatitis and autoimmune hemolytic anemia: efficacy of splenectomy on hemolysis]. / Hépatite à cellules géantes et anémie hémolytique auto-immune: efficacité de la splénectomie sur l'hémolyse.

BACKGROUND: The previously reported cases of giant cell hepatitis with autoimmune hemolytic anemia were improved by prednisone plus azathioprine. CASE REPORT: A 14-month-old boy suffered from giant cell hepatitis with auto-immune hemolytic anemia and positive direct Coombs test. Prednisone and azathioprine administration improved the liver disease but failed to control hemolysis so that repeated blood transfusions were necessary. Persistance of severe degree of hemolysis required splenectomy that was promptly and definitively effective. Azathioprine and prednisone were pursued for a total duration of five years. Twelve years after the onset of the disease, the child is well without any treatment. CONCLUSION: This is the first reported case of such an association in which poorly controlled auto-immune hemolytic anemia benefited from splenectomy.