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)

This work is a retrospective study of 50 cases of DHX, collected over a period of 27 years. 24 children died, 26 are still alive. The prognosis for DHX was neither dependent on age (usually occurring in children under 2 years) nor on histological findings but on the extent of the lesions. It was possible to establish a clinical staging system distinguishing 2 groups. One, where the disease was severe and almost always fatal, often included the combined symptoms of thrombocytopenia, spontaneous anemia, jaundice, hepatosplenomegaly, respiratory insufficiency and absence of osteolytic lesions. The other, with a favorable prognosis, was characterized by skin lesions, diabetes insipidus, exclusively radiological pulmonary involvement and multiple bone lesions. In cases where death did not occur, DHX was often chronic, frequently persisting for 2 years or more and leading to serious sequelae such as diabetes insipidus, growth stunting, intellectual retardation, blindness or deafness.
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PMID:Disseminated histiocytosis X: analysis of prognostic factors based on a retrospective study of 50 cases. 31 67

Two distinct and characteristic cases of osteopetrosis are presented. The first concerns a fourth month old baby with the malignant form of the disease, initiated since the newborn period. He was admitted because of abnormal ocular movements and probably deafness. At the physical examination he showed bilateral optic atrophy, abnormal ocular movements, hepatosplenomegaly and petechia. The diagnosis was confirmed by clinical means and radiological studies of virtually all of his skeleton. Several fractures were found. Laboratory tests showed marked anemia, trombocytopenia "tear cells", evidence of medullary erythropoiesis and myelofibrosis. An increased alkaline phosphatase was detected in serum and in granulocytes. The second case corresponds to a 26 year-old female with the benign form of the disease. She had multiple pathological fractures specially of her lower limbs, that produced severe impotence in her gait. In this case, the diagnosis is suspected on clinical basis and confirmed with the characteristic radiological findings. Some of the more distinct features of the disease are discussed, specially those concerning the genetic mode of inheritance and consanguinity, the etiopathogenic, pathophysiology, clinical, laboratory, prognosis and treatment, with particular reference to the radiological and hematologic problems related with this metabolic disorder.
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PMID:[Osteopetrosis (report of 2 cases)]. 91 41

A case of partial sphingomylinase deficiency with supranuclear vertical ophthalmoplegia, perceptive hearing loss and renal failure is reported. Extensive studies revealed sea-blue histiocytosis in bone marrow, delayed peripheral nerve conduction velocity, selective IgG and IgM deficiency, mild hepatosplenomegaly and testicular hypotrophy and retention. Although renal failure, perceptive deafness, immunoglobulin deficiency and testicular malformation are rare conditions in sphingomyelinase deficiency, this case mimicked to lipidosis reported by Neville. The association of congenital malformation and uremia might accentuate the symptoms.
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PMID:Partial sphingomyelinase deficiency with sea-blue histiocytosis and neurovisceral dysfunction. 254 78

Here we report a follow-up on a boy born in 1983 into a family with presumed Simpson-Golabi-Behmel syndrome and first reported as patient 3 by Opitz [1984] under the designation "Golabi-Rosen" syndrome. The patient died at 25 months without having attained any measure of psychomotor development or maturation and with a neurologic picture of irritability, increased muscle tone, seizures, deafness and possible cortical blindness. He had a striking facial appearance similar to that of severely affected individuals in the family reported by Golabi and Rosen [1984], with mild hepatosplenomegaly, unusual skin, normal growth, decelerating OFC, and on autopsy a spongiform degeneration of brain stem and cerebrum. Results of all biochemical studies, including those pertaining to GM3 gangliosidosis, were normal.
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PMID:Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family. 317 56

Neurological manifestations in infantile osteopetrosis are common and varied, and not always attributable to the skeletal pathology. An unusual association of osteopetrosis with neuronal storage of ceroid lipofuscin is reported in two infant brothers born of nonconsanguinous parents. The first child became symptomatic at age 5 days with weight loss and vomiting. He had poor head control, hypertonia, and persistent fisting, and died at age 2 months. In the second infant, the diagnosis of osteopetrosis was confirmed at age 2 days. His neurological symptoms included blindness, deafness, and recurrent seizures. The infant died at 7 months of age. In both cases, autopsy confirmed the diffuse bony sclerosis with hepatosplenomegaly and extramedullary hematopoiesis. Neuropathological examination revealed cerebral atrophy with ventricular dilation, neuronal loss, and astrogliosis. The most striking finding was widespread accumulation of neuronal ceroid lipofuscin associated with formation of axonal spheroids. The optic nerves were compressed at the optic foramina and showed loss of myelinated axons and gliosis. Rapid Golgi impregnations of neurons from the calcarine cortex in the second infant were analyzed quantitatively, showing a reduction in the total dendritic length and number of branches. The primary defect in osteopetrosis is thought to be a lysosomal dysfunction involving the monocyte cell line from which osteoclasts are derived. Thus, the association in two brothers of osteopetrosis with accumulation of neuronal ceroid lipofuscin may not be fortuitous. The neuronal storage disorder in this instance probably reflects lysosomal dysfunction.
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PMID:The association of infantile osteopetrosis and neuronal storage disease in two brothers. 334 81

Clinical details of 50 infants with congenital cytomegalovirus infection identified in a prospective study are reported. The mean birthweight, gestational age, and head circumference of children with congenital cytomegalovirus infection were not significantly different from those of controls. Three (6%) had symptoms at birth--two neurological and one pneumonitis. In the first four months of life transient hepatosplenomegaly occurred in two infected children and six suffered interstitial pneumonitis. Three congenitally infected children have major neurological handicaps including spastic quadriplegia, microcephaly, and psychomotor delay, and five (10%), including the one with quadriplegia, have sensorineural deafness which is bilateral in three (6%). Estimates based on these findings suggest that the impact of congenital cytomegalovirus infection is comparable to that of congenital rubella in the era before vaccination. Of the 42 children where the nature of maternal infection was classifiable, congenital infection followed primary maternal infection in 32 (76%) and recurrent infection in 10 (24%). Neurological defects followed exposure to primary maternal infection in all three trimesters of pregnancy and also recurrent maternal infection.
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PMID:Congenital cytomegalovirus infection. 609 25

We conducted a retrospective survey of children who were born with congenital rubella syndrome (CR) resulting from a recent rubella epidemic. Sources of information were hospital and laboratory records and data collected in an active search for deaf children born following the epidemic and attending rehabilitation centers for the deaf (Micha). Criteria for inclusion in the survey were: 1) major clinical defects, and 2) one or more of the following positive laboratory findings--virus isolation, presence of rubella-specific IgM antibodies, or the presence of hemagglutination inhibition (HI) antibodies in children beyond the age of 1 year. Excluded from the study were 28 children with persistent HI antibodies, but without clinically detected defects. CR was identified in 45, among them 43 with deafness. Other major defects were psychomotor retardation, microcephaly, cataracts and heart defects. Transient abnormalities included encephalitis, hepatosplenomegaly, jaundice, thrombocytopenia, intrauterine grown retardation and failure to thrive. Thirty-one mothers (70%) reported a history of clinical rubella in pregnancy, the others having experienced subclinical infection. Multiple defects were found in children born following early gestational rubella (less than 2 months); abnormalities also occurred as a consequence of rubella as late as the fifth month of gestation.
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PMID:Congenital rubella in Israel following the 1978-79 rubella epidemic. 666 76

In this paper we report a case of malignant lymphoma with neoplastic angioendotheliosis in the brain. A 44-year-old man with transient episodes of deafness, hypersomnia, and anorexia over a 5-month period acutely deteriorated. He presented with low grade fever, dementia, frontal lobe signs, general hyperreflexia, muscle weakness of the extremities, and ataxia. He did not have hepatosplenomegaly, lymph node swelling, or skin eruptions. On the 15th day after admission to the hospital he developed convulsions and died. Post-mortem examination revealed multiple infarcts in the central nervous system, especially in the bilateral cerebral white matter and basal ganglia, where mononuclear tumor cells were widespread within the lumens of small blood vessels, accompanied by lymphocytic infiltration and degenerative and occulsive changes of the vessels. Intravascularly in many visceral organs and in the adrenal glands, both intra- and extravascularly, proliferation of tumor cells was observed. Furthermore, a small nest of malignant lymphoma of diffuse mixed cell type was found in a para-aortic lymph node, and the lymphoma cells were identical to tumor cells observed in the brain and other organs.
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PMID:Malignant lymphoma presenting with neoplastic angioendotheliosis of the central nervous system. 685 Dec 98

Combined application of clinical, genetic and histological criteria in general allows a definite diagnosis of autosomal dominant ichthyosis vulgaris and of X-linked recessive ichthyosis. For differential diagnosis, the following rare syndromes should be considered: ichthyosis bullosa: Refsum syndrome; Jung-Vogel syndrome; ichthyosis with corneal opacity, pili torti and alopecia; ichthyosis with deafness, pili torti and dental anomalies; and ichthyosis with hepatosplenomegaly and cerebellar degeneration.
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PMID:[Clinical features and genetics of the ichthyosis vulgaris group]. 727 18

Nineteen Arab children including six boys and 13 girls in ten sibships were diagnosed as having osteopetrosis over a 5-year period in various hospitals in Kuwait. Eighteen patients had an isolated autosomal recessive form and one had autosomal recessive osteopetrosis associated with renal tubular acidosis. The mean age of diagnosis was 24 months. Parental consanguinity was high amongst them (68%). Anaemia, hepatosplenomegaly, failure to thrive, recurrent infections and neurological manifestations were common. Associated congenital abnormalities were found in 26%. Deafness, hydrocephalus and dental caries were relatively less common. A high mortality (37%) owing to infection was noted. The medical management and recommendations for patient care are discussed briefly.
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PMID:Autosomal recessive osteopetrosis in Arab children. 751 36


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