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

Cat scratch disease is a subacute regional lymphadenitis usually preceded by a history of being scratched by a cat or young kitten. The spectrum of illness ranges from mild self-limited adenopathy to severe systemic disease, including hepatosplenomegaly, encephalopathy, osteolytic lesions, splenic abscesses, mediastinal masses, and neuroretinitis. Vision loss is a rare complication of the disease. The authors report a patient with cat scratch disease associated with acute febrile illness, lymphocytic meningitis, and acute vision loss secondary to neuroretinitis. To their knowledge, this is the first ophthalmic case reported in which the diagnosis is supported by both a positive skin test and positive histopathology.
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PMID:Cat scratch disease associated with neuroretinitis in a 6-year-old girl. 155 16

The osteopetroses are a heterogeneous group of disorders characterised by generalised bony sclerosis. The autosomal dominant form usually has a "benign" prognosis, in contrast to the "malignant" course of the autosomal recessive variety. In this paper we describe a kindred in which the phenotypic spectrum varied from an asymptomatic condition in adults to a severely affected infant, presenting with anaemia, hepatosplenomegaly, hydrocephalus and blindness. The findings in this family are reported and discussed to elucidate further the possible genetic heterogeneity in autosomal dominant osteopetrosis.
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PMID:Autosomal dominant osteopetrosis type II with "malignant" presentation: further support for heterogeneity? 226 72

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

Juvenile chronic arthritis is the most common connective tissue disease in children. It is of great social and clinical interest for its chronicity, for the often unpredictable response to pharmacological treatment; for the spontaneous evolution toward infirmity and often blindness. The English classification of the disease is here been adopted. There are 3 different types of onset: systemic, poliarticular and pauciarticular. Large joints such as the knees, wrists and ankles are involved more often than small joints. Also the cervical spine is frequently affected. Systemic disease is accompanied by high spiking fever, rash, lynphoadenopathy, pericarditis and hepatosplenomegaly. Chronic uveitis is a feature of JCA, more frequently observed in pauciarticular than in the other types of onset, and it is almost always associated with antinuclear antibody seropositivity. Rheumatoid factor (RF) and subcutaneous nodules are unusual in JCA. Diagnosis is often not easy and it is essentially clinical. The diagnostic criteria adopted have been proposed by ARA in 1977. In the majority of children treatment with ASA is successful. Sometimes other types of more toxic drugs such as gold salts or penicillamine are needed. Their use is best confined to reference centers. Orthopedical and physiotherapic treatments are complementary to the pharmacological one. Multidisciplinary centers are therefore necessary for the total management of these children also to stress the importance of furthering physical and psychological growth.
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PMID:[Juvenile chronic arthritis]. 409 7

Autosomal recessive osteopetrosis is a rare congenital disorder characterized by the development of abnormally dense bones, acrocephaly, severe anemia, hepatosplenomegaly and progressive deafness and blindness. The clinical course is rapidly progressive and is lethal at a very young age in the absence of a bone marrow transplant. The failure to remodel developing bone that is the basis of the disease process is most likely due to a dysfunction of the bone resorptive cell, the osteoclast. This phenotype is similar to that of the murine mutation osteosclerosis (oc), which is localized to proximal mouse chromosome 19. Given the similarity between the human and murine phenotypes, we tested whether human osteopetrosis maps to a region of conserved synteny. Microsatellite markers in the region of 11q12-13 were found to be linked to osteopetrosis in two consanguineous Bedouin kindreds. Recombination events were used to define the disease interval to an approximately 14 cM region between D11S1983 and D11S2371. A maximum LOD score of 7. 94 was obtained with D11S449 at straight theta = 0.
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PMID:Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation. 970 Jan 94

We present a case of juvenile myelomonocytic leukemia (JMML) with ocular infiltration. A 1-month-old boy presented with myeloid precursors in peripheral blood and a white blood cell count >10x10(9)/l. His peripheral blood monocyte count was >1x10(9)/l, bone marrow blasts were <20%, and no Ph chromosome was identified. The boy also presented with hepatosplenomegaly, pallor, fever, and skin rash. We diagnosed this case as JMML, although hemoglobin F was within the normal range and no spontaneous colony growth was observed from peripheral blood mononuclear cells. Neither Epstein-Barr (EB) virus nor cytomegalovirus was detected by PCR in bone marrow aspirate or peripheral blood. The patient had several lesions into which JMML cells might have infiltrated, including skin, liver, spleen, oral cavity, right lung, sigmoid colon, and both eyes. To our knowledge, this is the first reported case of JMML with ocular involvement. Since infiltration of JMML cells into both eyes causes blindness, further consideration of the timing of bone marrow transplantation (BMT) in JMML is necessary.
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PMID:A case of juvenile myelomonocytic leukemia with ocular infiltration. 1064 83

A genetic epidemiological study of osteopetrosis was carried out in Chuvashiya. The major signs of this disorder are severe anemia developed in the prenatal or early postnatal life, hepatosplenomegaly, and a progressive loss of sight and hearing. Osteopetrosis showed the autosomal recessive inheritance with a somewhat increased proportion of affected patients in families. The lowest estimate of osteopetrosis frequency in Chuvashiya was 0.00026, one affected patient per 3879 newborns. The osteopetrosis gene occurred at a frequency of 0.016; the proportion of heterozygotes was 3.15%. The gene was shown to be evenly distributed throughout the republic.
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PMID:[Autosomal-dominant osteopetrosis in Chuvashiya]. 1164 16

Osteopetrosis is a heterogeneous family of rare human genetic disorders due to markedly decreased bone resorption. It is one among disorders causing osteosclerosis of the trabecular bone and/or hyperostosis of the cortical bone. Four types of human osteopetrosis have been clearly defined, but patients with atypical symptoms are frequent, suggesting that there are additional forms. The most severe expression of this condition in its malignant form is inherited as an autosomal recessive disorder and it is usually fatal before school age. It presents with failure to thrive, severe hepatosplenomegaly, pancytopenia and nerve compression leading to blindness and deafness during infancy. The case of a 2-month-old female child with severe hepatosplenomegaly, failure to thrive, nystagmus, pancytopenia, gengival hyperplasia, optic atrophy, absent evoked visual potential and increased bone density within the total skeleton, is reported. Diagnosis of autosomal recessive malignant osteopetrosis was established by transiliac bone biopsy. She underwent bone marrow transplantation, but died soon afterwards. This rare and mortal disorder of bone formation requires early diagnosis and immediate pharmacological treatment, consisting in administration of vitamin D, in order to enhance bone resorption and of prednisone to improve hematological indexes and, if possible, bone marrow transplantation in order to ameliorate quality of life and survival.
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PMID:Autosomal malignant osteopetrosis. From diagnosis to therapy. 1524 21


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