Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Clinical and radiological studies of seven patients with autosomic recessive malignant osteopetrosis are presented. Diagnosis was established before the age of 3 months in six cases and at 7 months in one. In all cases the presenting signs were pallor and hepatosplenomegaly with associated neurological involvement in five. All patients had normocytic normochromic anemia, leucopenia and thrombocytopenia with features of extramedullary hematopoiesis. Radiological studies revealed increase in the density of bones with "mask" appearance of facial bones and diminished size of optic foramina. Long bones showed absence of normal trabeculae and anomalies in modeling with methaphiseal bands and "bone within bone" images. There was hypocalcemia and hypophosphatemia with slight increases in alkaline phosphatase; parathormone was normal. Clinical course was characterized by progressive pancytopenia, recurrent infections and neurological deterioration with convulsions, nistagmus and optic atrophy. Five out of the seven patients died after a median of 3 months, due to infections or haemorrhage. The patient diagnosed at 7 months of age presented bilateral optic atrophy and moderate anemia; no other complications appeared after 2 year follow-up. Histological findings included substitution of bone marrow by chondro-osseous tissue; focal obsteoblastic and osteoclastic activity in calcified cartilage, and myeloid metaplasia in liver, spleen, lymph nodes and kidneys. The lesions are in agreement with the concept of a defect in bone formation-resorbtion balance; dysfunction of both osteoclasts and osteocytes is implicated in the pathogenesis. Unlike experimental disease, osteopetrosis in man is probably an heterogeneous disease and appropriate therapy should be individualized. Nevertheless, at present, the only favorable results have been obtained with bone-marrow transplantation.
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PMID:[Juvenile malignant osteopetrosis. Clinico-radiological study of 7 cases]. 663 10

The authors report on a case of severe primary hyperparathyroidism with clinical signs from birth. The boy was admitted because of poor somatomental development, hypotony, hepatosplenomegaly and osseous abnormalities, resembling those of rachitis. Laboratory data showed the typical findings of primary hyperparathyroidism. The authors performed parathyroidectomy with simultaneous heterotopic parathyroid tissue autotransplantation. Histology revealed parathyroid chief cell hyperplasia. Because of the hypercalcaemia and clinical signs persisting after the operation they removed the parathyroid autografts. Since this later was ineffective they performed a left sided neck dissection on the side of the excessive parathormone production. The child became hypocalcaemic necessitating calcium and vitamin D administration. He is now 17 months after the last operation. His somatomental development is accelerated. In connection with the case the authors surveyed the literature of this rare entity.
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PMID:[Neonatal primary hyperparathyroidism]. 875 9

Adult T cell leukemia- lymphoma is a rare aggressive malignancy of the peripheral T lymphocytes, caused by human T cell lymphotropic virus -1 (HTLV-1) infection. Hypercalcemia occurs in about 70% of patients with acute adult T cell leukemia. However, there are very few case reports of adult T cell leukemia presenting as a hypercalcemic crisis. We report a case of a 54-year-old male who presented with abdominal pain, constipation and altered sensorium. On examination he had generalized lymphadenopathy, hepatosplenomegaly and paralytic ileus. Investigation revealed hypercalcemic crisis with low parathormone (PTH) levels. Peripheral smear and bone marrow aspirate were consistent with adult T cell leukemia. HTLV-1 serology was positive. Despite the corrective measures for hypercalcemia and chemotherapy, he succumbed to the illness in a week.
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PMID:Hypercalcemic crisis due to adult T cell leukemia: a rare cause of paralytic ileus. 2471 44

Osteopetrosis is a hereditary disorder of bone characterized by sclerosis of bone and decreased marrow spaces. Due to depressed marrow function, this disorder can cause anemia, hepatosplenomegaly, recurrent infections and osteomyelitis of jaw. Excessive bone deposition in skull base leads to narrowing of foramina and cranial nerve compression. Bone marrow transplantation is the only curative treatment. Other treatments, like interferon gamma, corticosteroids, parathormone and erythropoietin are also used for management. Transfusion of blood, debridement of wound and antibiotics is used to manage complications. Due to its rarity, it is always difficult to diagnose osteopetrosis. Proper diagnosis and treatment decreases the long-term sequelae of the disease.
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PMID:Oral Manifestations of Osteopetrosis. 2652 99