Document Detail

Ataxia telangiectasia with generalized skin pigmentation and early death.
MedLine Citation:
PMID:  3732314     Owner:  NLM     Status:  MEDLINE    
A female infant with clinical and laboratory features of ataxia telangiectasia (AT) showed two clinical features exceptional for the disease, i.e. generalized skin pigmentation and an unusually early death at the age of 15 months. Her clinical features supportive of the diagnosis of AT included growth and developmental retardation and muscle weakness. Findings indicating immunodeficiency included recurrent pulmonary infections, failure of PHA stimulation of PB lymphocytes, decreased levels of serum IgM and IgA and on autopsy, an atrophic thymus without Hassall's corpuscles. Her cultured skin fibroblasts showed increased spontaneous chromosome breakages and hypersensitivity to X-ray irradiation, as would be expected for AT fibroblasts. She showed elevated blood HbF levels, macrocytic anaemia, granulocytopenia and thrombocytopenia, findings suggestive of a preleukaemic or leukaemic process. Yet aspirates of her bone marrow revealed no malignant cells. Autopsy revealed bilateral Pneumocystis carinii pneumonia, telangiectatic lesions in all the internal organs studied, sparse and degenerative Purkinje cells in the cerebellar cortex and atrophic ovaries. In view of these findings, it was concluded that the patient had a hitherto undescribed variant of ataxia telangiectasia.
M Tsukahara; M Masuda; K Ohshiro; K Kobayashi; T Kajii; Y Ejima; M S Sasaki
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  European journal of pediatrics     Volume:  145     ISSN:  0340-6199     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  1986 Apr 
Date Detail:
Created Date:  1986-09-16     Completed Date:  1986-09-16     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  121-4     Citation Subset:  IM    
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MeSH Terms
Ataxia Telangiectasia / complications*,  immunology,  mortality
IgA Deficiency
Immunoglobulin M / deficiency
Immunologic Deficiency Syndromes / complications
Pigmentation Disorders / complications*,  pathology
Skin / pathology
Reg. No./Substance:
0/Immunoglobulin M

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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