[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.

[Vitamin A poisoning revealed by hypercalcemia in a child with kidney failure]. / Intoxication à la vitamine A révélée par une hypercalcémie chez un enfant insuffisant rénal.

BACKGROUND: Patients with chronic renal failure are at risk of vitamin A intoxication, a risk that must be evoked when unexplained hypercalcemia occurs. CASE REPORT: An 8 year-old boy with Alagille syndrome and chronic renal failure was admitted because of general deterioration, and bone pain. Severe hypercalcemia (3.9 mmol/L) was present. Serum phosphate, parathyroid hormone and 25 OH D3 levels were normal; 1-25 (OH)2 D3 levels were undetectable. Hypercalcemia was attributed to vitamin A intoxication, due to the administration of a mean daily dose of 12000 IU of vitamin A for at least 2 years. The diagnosis was confirmed by high plasma levels of retinol (1475 micrograms/L). Hypercalcemia only partially responded to treatment with bisphosphonates, calcitonin and dialysis with low calcium dialysate. Serum vitamin A levels remained elevated one month after vitamin A withdrawal. The boy died two months after admission from atrioventricular block. CONCLUSION: Vitamin A administration induces a high risk of intoxication in patients with chronic renal failure. Serum vitamin A concentrations are elevated in these patients, because of decreased renal metabolism of retinol, and vitamin A supplements must be avoided.

[Acute immune epiduritis in a child]. / Epidurite aiguë d'origine immunologique chez un enfant.

Acute epiduritis is an uncommon disease especially in children. We report an unusual case of acute epiduritis in a child, revealed by characteristic clinical signs and Magnetic Resonance Imaging (MRI). Given the absence of identified infectious or tumoral cause, and the ineffectiveness of antimicrobial treatment, a therapeutic test with polyvalent immunoglobulins was implemented. Rapid clinical improvement led to the retrospective diagnosis of probable immunological acute epiduritis.

[Takayasu disease revealed by dorsalgia]. / Dorsalgies révélant une maladie de Takayasu.

UNLABELLED: Takayasu arteritis is an uncommon inflammatory arteritis especially in children. We report a case. CASE REPORT: A 11-year-old boy presented dorsalgia with inflammatory syndrome. One year later, the investigation of an hypertension with asymmetric blood pressure revealed an aortic coarctation and a bilateral renal arteries stenosis leading to Takayasu's arteritis diagnosis. CONCLUSION: Takayasu's arteritis must be evokated in young children in case of associated hypertension and inflammatory syndrome.

[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.

[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.

[Lysinuric dibasic protein intolerance: characteristic aspects of bone marrow involvement]. / Intolérance aux protéines dibasiques avec lysinurie: aspect caractéristique de l'atteinte médullaire.

BACKGROUND: The marrows of patients with lysinuric protein intolerance (LPI) are generally considered as normal, even though autoerythrophagocytosis has been observed in some of them. CASE REPORTS: Lysinuric protein intolerance was recognized in two 12 and 15-year-old brothers who had been diagnosed following an immuno-hematological investigation. Clinical history had been characterized by a neonatal macrophage activation syndrome (hepatosplenomegaly, pancytopenia, hypofibrinogenemia and hypertriglyceridemia). A putative diagnosis of familial lymphohistiocytosis had been ruled out because of unusual clinical and immunological course. Both brothers had displayed chronic aversion to high-protein foods, failure to thrive, osteoporosis and developmental delay. Metabolic investigations had revealed chronic hyperammonemia while cationic aminoaciduria (lysine, arginine and ornithine) was only present during L-citrulline supplementation. Bone marrow examinations had been performed during the neonatal period and during later metabolic investigations. They both displayed a peculiar red cell and granulocytes phagocytosis by histiocytes and granulocytes precursors. CONCLUSIONS: This aspect of bone marrow could be considered as a specific sign of LPI. This report suggests that appropriate metabolic investigations should be performed in any unexplained macrophage activation syndrome.

[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.

[Right intraventricular thrombus. Rare complication of caval catheterization]. / Thrombus intraventriculaire droit. Complication rare du cathétérisme intracave.

BACKGROUND: Thrombus formation is one of the main complications of the catheterization used for total parenteral nutrition. Its location inside the right ventricle is exceptional. This paper describes such a case. CASE REPORT: A boy was born at the gestational age of 35 weeks, weighing 2,640 g. He developed acute respiratory distress followed by prolonged diarrhea that required parenteral nutrition. A catheter was inserted into his right subclavian vein when he was aged 5 weeks. The patient developed septic shock with multi-visceral failure 8 days later. Blood cultures showed Staphylococcus aureus. Despite symptomatic therapy and antibiotics, the baby developed thrombosis of the superior vena cava with no right atrial thrombus, that required removal of the catheter. Angiography and Doppler echocardiography performed 2 and 3 weeks later showed a thrombus in the right ventricle that disappeared within 2 weeks after prolonged antibiotic and heparin therapy. CONCLUSION: Repeated Doppler echocardiography is necessary to monitor prolonged total parenteral nutrition. Intracardiac thrombus can be detected; this is more frequently located in the atrium than in the ventricle.

Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysinuric protein intolerance.

We describe 4 cases of lysinuric protein intolerance, which all fulfilled the diagnostic criteria for hemophagocytic lymphohistiocytosis. Mature histiocytes and neutrophil precursors participated in hemophagocytosis in the bone marrow. Moreover, serum levels of ferritin and lactate dehydrogenase were elevated, hypercytokinemia was present, and soluble interleukin-2 receptor levels were increased up to 18.6-fold. The diagnosis of lysinuric protein intolerance should therefore be considered in any patient presenting with hemophagocytic lymphohistiocytosis.

Chemotherapy for unresectable and recurrent intramedullary glial tumours in children. Brain Tumours Subcommittee of the French Society of Paediatric Oncology (SFOP).

Adjuvant treatment for intramedullary tumours is based on radiotherapy. The place of chemotherapy in this setting has yet to be determined. Between May 1992 and January 1998, eight children with unresectable or recurrent intramedullary glioma were treated with the BB SFOP protocol (a 16-month chemotherapy regimen with carboplatin, procarbazine, vincristine, cyclophosphamide, etoposide and cisplatin). Six children had progressive disease following incomplete surgery and two had a post-operative relapse. Three patients had leptomeningeal dissemination at the outset of chemotherapy. Seven of the eight children responded clinically and radiologically, while one remained stable. At the end of the BB SFOP protocol four children were in radiological complete remission. After a median follow-up of 3 years from the beginning of chemotherapy, all the children but one (who died from another cause) are alive. Five patients remain progression-free, without radiotherapy, 59, 55, 40, 35 and 16 months after the beginning of chemotherapy. The efficacy of this chemotherapy in patients with intramedullary glial tumours calls for further trials in this setting, especially in young children and patients with metastases.