Document Detail


Partial sphingomyelinase deficiency with sea-blue histiocytosis and neurovisceral dysfunction.
MedLine Citation:
PMID:  2542678     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
M Konagaya; T Konishi; Y Konagaya; T Takayanagi; E Kita; T Muto
Related Documents :
10945068 - Pulmonary haemosiderosis in saudi children: report of two cases and review of the liter...
13680408 - A case of partial biotinidase deficiency associated with autism.
9857238 - Possible prediction of adverse reactions to fluorouracil by the measurement of urinary ...
15901528 - Endocrine disturbances in empty sella syndrome: case reports and review of literature.
9715228 - Intestinal strongyloidiasis manifesting as eosinophilic pleural effusion.
22926198 - Effect of rapid cessation of enzyme replacement therapy: a report of 5 cases and a revi...
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    
Affiliation:
Department of Neurology, Nara Medical University, Japan.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
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:
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


Previous Document:  Clinical significance of serum guanase activity in various liver diseases.
Next Document:  A case of chronic myelogenous leukemia with T lymphoblastic and megakaryoblastic mixed crisis.