Document Detail

Partial sphingomyelinase deficiency with sea-blue histiocytosis and neurovisceral dysfunction.
MedLine Citation:
PMID:  2542678     Owner:  NLM     Status:  MEDLINE    
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.
M Konagaya; T Konishi; Y Konagaya; T Takayanagi; E Kita; T Muto
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Japanese journal of medicine     Volume:  28     ISSN:  0021-5120     ISO Abbreviation:  Jpn. J. Med.     Publication Date:    1989 Jan-Feb
Date Detail:
Created Date:  1989-07-10     Completed Date:  1989-07-10     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0247713     Medline TA:  Jpn J Med     Country:  JAPAN    
Other Details:
Languages:  eng     Pagination:  85-8     Citation Subset:  IM    
Department of Neurology, Nara Medical University, Japan.
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MeSH Terms
Deafness / complications*
Dysgammaglobulinemia / complications
Gonadal Dysgenesis / complications
Histiocytes / pathology*
IgG Deficiency
Immunoglobulin M / deficiency
Kidney Failure, Chronic / complications*
Ophthalmoplegia / complications*
Phosphoric Diester Hydrolases / deficiency*
Sphingomyelin Phosphodiesterase / deficiency*
Testis / abnormalities
Reg. No./Substance:
0/Immunoglobulin M; EC 3.1.4.-/Phosphoric Diester Hydrolases; EC Phosphodiesterase

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