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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient with classic (type A) Niemann-Pick disease had the usual clinical signs of failure to thrive, hepatosplenomegaly, and intellectual deterioration in the first year of life. In addition, there was striking hypotonia, areflexia, and abnormal nerve conduction velocities. Pathologically, the Schwann cells were filled with numerous cytoplasmic bodies. These bodies measured 1 mu in diameter and appeared to be dense, round masses with poorly defined internal structure but with occasional slightly curved parallel lines and small radiolucent areas. Peripheral nerve involvement may be a frequent finding in patients with classic Niemann-Pick disease.
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PMID:Peripheral neuropathy in classic Niemann-Pick disease: ultrastructure of nerves and skeletal muscles. 16 50

We report the case of a child with a variant of the Omenn immunodeficiency syndrome. He presented with erythroderma, lymphadenopathy, hepatosplenomegaly, failure to thrive, and recurrent purulent infections. The immunological studies showed marked disturbances in the subpopulations and functions of T lymphocytes, which suggests a defect in T cell differentiation as the cause of the disease.
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PMID:A case of Omenn-like immunodeficiency syndrome. 147 28

Clinical features observed in 60 cases of childhood HIV infection at the Cliniques Universitaires of Kinshasa is reported. Exposure mode, demonstrated in 92% of cases, was essentially maternofetal (65%) and related to blood transfusion (27%). The clinical signs appeared the first year of life in children born to seropositive mothers (82%). The main clinical features were: failure to thrive, high recurrent fever, persistent cough, chronic diarrhea, recurrent respiratory infections, hepatosplenomegaly, generalized lymphoadenopathy and oral candidiasis. Pulmonary lesions were very common (90%). These lesions were related to bacteria in 20 cases, to tuberculosis in 17 cases and to interstitial pneumonitis in 20 cases.
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PMID:[Clinical manifestations of AIDS in children in Kinshasa]. 166 39

A girl presented at 6 weeks of age with failure to thrive and arching of the back. She had various dysmorphic features, hepatosplenomegaly, and developmental delay. The electroencephalogram and cranial ultrasound were abnormal, and a computed tomogram showed lissencephaly and apparent agenesis of the corpus callosum. Because of frequent aspiration she became oxygen dependent. She later developed intractable convulsions and died at the age of 9 months.
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PMID:Miller-Dieker syndrome with ring chromosome 17. 171 6

Niemann-Pick disease (NPD) type B was diagnosed clinically and enzymatically in a 5-year-old girl presenting with failure to thrive, hepatosplenomegaly, diffuse interstitial infiltration of both lungs on chest roentgenograms, cherry red spot, and foam cells in the bone marrow aspirate. Intelligence and neurological examination were normal, sphingomyelinase activity was severely deficient in cultured skin fibroblasts. We present the first case of NPD type B in Taiwan and relevant literatures were reviewed.
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PMID:Niemann-Pick disease type B with ocular involvement: report of a case. 177 42

A 4-month-old male infant had a 2-month history of an exfoliative erythroderma and alopecia. Recurrent mucosal infections, diffuse lymphadenopathy, hepatosplenomegaly, lymphocytosis and eosinophilia, anemia, and failure to thrive later developed. Investigation revealed a combined immunodeficiency with T cells of an unusual phenotype in his peripheral blood, skin, and lymph nodes. Our patient's clinical manifestations most closely resemble Omenn's syndrome, a rare form of autosomal recessive combined immunodeficiency.
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PMID:Omenn's syndrome and related combined immunodeficiency syndromes: diagnostic considerations in infants with persistent erythroderma and failure to thrive. 183 95

We report the immunological characteristics of five patients with Omenn's syndrome, a rare inherited immunodeficiency also known as combined immunodeficiency with hypereosinophilia. The syndrome is characterized by T cell infiltration of skin, gut, liver, and spleen leading to diffuse erythroderma, protracted diarrhea, failure to thrive, and hepatosplenomegaly. Blood T cells as well as those infiltrating the skin and gut were found to express activation markers and were partially activated by mitogens but not by antigens. Although the lesions resembled those in graft-versus-host disease, the blood T cells were shown by DNA haplotype analysis using probes revealing variable number of tandem repeats to belong to the patients as well as the T cells infiltrating the gut and skin in one patient. A given T cell subset (TCR alpha beta+, CD4+/CD8+, or TCR gamma delta+) was predominant in each patient, with a specific distribution in the skin lesions. Moreover, the study of T cell receptor beta, gamma, and delta gene rearrangements in four patients revealed oligoclonality involving C beta 1, C beta 2, or different V gamma J gamma or V delta J delta genes. This indicates that restricted heterogeneity of the T cell repertoire, previously reported in one case, is a major feature of this syndrome. The occurrence of alymphocytosis-type severe combined immunodeficiency in the brother of one of the patients suggests that the restricted heterogeneity of T cell receptor gene usage in Omenn's syndrome may arise from leakiness, within the context of a genetically determined faulty T cell differentiation.
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PMID:Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome). 201 May 48

Eleven children were identified as being seropositive for HIV-1 at the Ethio-Swedish Children's Hospital, Addis Abeba, Ethiopia between January 1988 and September 1989. The diagnosis was confirmed by both ELISA and Western blot methods performed at the National Research Institute of Health, Special Laboratory for AIDS. The mean age was 2 years and 5 months, with a range of 1 week to 10 years. There were 7 boys and 4 girls. The most common admitting diagnoses were pneumonia (5), gastroenteritis (5), marasmus (5), disseminated tuberculosis (4), and abandonment (3). One patient had extensive facial molluscum contagiosum. Symptoms at admission or during hospitalization included diarrhoea (9), failure to thrive (8), fever (7), and cough (7). Physical findings included hepatosplenomegaly (5), lymphadenopathy (3), and oral candidiasis (2). No patient with an opportunistic infection or radiographic evidence of lymphocytic interstitial pneumonitis (LIP) was identified. Five patients were classified as marasmic and 4 as underweight. Evidence suggestive of encephalopathy (developmental delay and/or microcephaly) was present in 5 patients. The VDRL was non-reactive in the 5 patients in whom it was tested. Nine children were presumed to have acquired the infection by perinatal transmission, though the passive transfer of maternal antibodies or postnatally acquired infection could not be excluded. One child was thought to have acquired the infection by blood transfusion. Three children died during their hospital stay. Paediatric HIV infection exists in Ethiopia; however, these children do not present with characteristic opportunistic infections but with signs and symptoms reflecting the most common paediatric problems seen in the country. Prevention of HIV infection in children entails the prevention of infection in women of childbearing age, counselling of infected women, and effective screening of blood products.
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PMID:Clinical and epidemiological features of HIV-1 seropositive hospitalized Ethiopian children. 206 May 7

The predominantly heterosexual transmission of human immunodeficiency virus (HIV) in Africa suggests that pediatric acquired immunodeficiency syndrome (AIDS) could develop into a significant child health problem in this region. To assist clinicians in recognizing HIV infection in African children, the clinical features of 185 children with symptomatic HIV-related disease diagnosed at the 2 central hospitals in Harare, Zimbabwe, from April 1986-July 1987 were enumerated. In this period, 185 such cases were diagnosed. 83 (47%) involved children 0-12 months of age and another 61 (35%) represented children 13-24 months old. The male/female ratio was 1.0:1.03. The most frequently recorded clinical feature (52% of cases) was generalized lymphadenopathy, with or without hepatosplenomegaly. 45% of HIV-infected children presented with respiratory symptoms and pulmonary infiltrates on chest x-ray. Failure to thrive was present in 38% of cases. Also relatively common were hepatomegaly and splenomegaly (35% and 26%, respectively). Chronic, recurrent diarrhea was present in 21%. Less frequently observed (under 10% of cases) clinical findings were maculopapular eczematoid rashes, parotid swelling, chronic suppurative otitis media, chronic mucopurulent rhinitis, meningitis, and encephalopathy. 3 main clinical modes of presentation were identified--children with failure to thrive or marasmus in association with chronic diarrhea and developmental delay, those with generalized lymphadenopathy and hepatosplenomegaly, and children who present with chronic cough with pulmonary infiltrates on chest x-ray.
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PMID:Clinical presentation of symptomatic human immuno-deficiency virus in children. 226 23

A diagnosis of Smith-Lemli-Opitz syndrome was made shortly after birth in a small-for-dates infant, on the basis of a characteristic face, penoscrotal hypospadias, bilateral postaxial hexadactyly, and bilateral syndactyly of toes 2-3. The clinical course was marked by failure to thrive, severe delay, refractory myoclonic jerks beginning at age 2 months, and increasing hepatosplenomegaly. He developed corneal clouding and increased gingival hypertrophy and died at age 18 weeks. Autopsy disclosed widespread storage of mucopolysaccharides and lipids within the macrophages and, to a lesser extent, parenchymal cells, of all organ systems. There was extensive demyelination of the cerebral white matter, and dystrophic calcification in the cerebrum, cerebellum, and brainstem. There was no evidence of primary neuronal involvement in the storage. Although the chance concurrence of 2 uncommon diseases is rare, a causal link between the clinical anomalies and the storage disorder cannot be argued convincingly on the basis of one case. Careful pathologic studies of other children who die with clinical signs compatible with Smith-Lemli-Opitz syndrome are indicated.
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PMID:Apparent Smith-Lemli-Opitz syndrome in a child with a previously undescribed form of mucolipidosis not involving the neurons. 230 89


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