| Partial sphingomyelinase deficiency with sea-blue histiocytosis and neurovisceral dysfunction. | |
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MedLine Citation:
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PMID: 2542678 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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M Konagaya; T Konishi; Y Konagaya; T Takayanagi; E Kita; T Muto |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Japanese journal of medicine Volume: 28 ISSN: 0021-5120 ISO Abbreviation: Jpn. J. Med. Publication Date: 1989 Jan-Feb |
Date Detail:
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Created Date: 1989-07-10 Completed Date: 1989-07-10 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0247713 Medline TA: Jpn J Med Country: JAPAN |
Other Details:
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Languages: eng Pagination: 85-8 Citation Subset: IM |
Affiliation:
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Department of Neurology, Nara Medical University, Japan. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Deafness / complications* Dysgammaglobulinemia / complications Female Gonadal Dysgenesis / complications Histiocytes / pathology* Humans IgG Deficiency Immunoglobulin M / deficiency Kidney Failure, Chronic / complications* Male Ophthalmoplegia / complications* Phosphoric Diester Hydrolases / deficiency* Sphingomyelin Phosphodiesterase / deficiency* Testis / abnormalities |
| Chemical | |
Reg. No./Substance:
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0/Immunoglobulin M; EC 3.1.4.-/Phosphoric Diester Hydrolases; EC 3.1.4.12/Sphingomyelin Phosphodiesterase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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