Document Detail

Ataxia Telangiectasia. A case report.
MedLine Citation:
PMID:  11993033     Owner:  NLM     Status:  MEDLINE    
The case of an eight year old girl with Ataxia Telangiectasia (AT) is described. She presented at seven years of age with gait problems and was found to have the neurological, dermatological and immunological features characteristic of AT along with a history of frequent sino-pulmonary infections. This report highlights the refractory nature of the disease, the difficulties in medical management, and the problems posed by late diagnosis which can compromise patient care. This is a rare inherited form of ataxia which has not been previously reported in West Indian literature.
J Ramcharan; B Balkaran; K Basdeo-Maharaj; D Narinesingh; A Ramlackhansingh
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The West Indian medical journal     Volume:  50     ISSN:  0043-3144     ISO Abbreviation:  West Indian Med J     Publication Date:  2001 Dec 
Date Detail:
Created Date:  2002-05-07     Completed Date:  2002-05-29     Revised Date:  2008-03-10    
Medline Journal Info:
Nlm Unique ID:  0417410     Medline TA:  West Indian Med J     Country:  Jamaica    
Other Details:
Languages:  eng     Pagination:  336-8     Citation Subset:  IM    
Department of Child Health, Faculty of Medical Sciences, University of the West Indies, St. Augustine, Trinidad and Tobago.
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MeSH Terms
Ataxia Telangiectasia / complications,  diagnosis*,  therapy
Diagnosis, Differential
Disease Progression
Failure to Thrive / etiology
Immunoglobulins, Intravenous / therapeutic use
Patient Care
Reg. No./Substance:
0/Immunoglobulins, Intravenous

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