Document Detail


Neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene, and a rapidly lethal course.
MedLine Citation:
PMID:  3314508     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Infantile neuroaxonal dystrophy (IND) is a well-established autosomal recessive neurodegenerative disease. Clinical signs generally begin toward the end of the first or during the second year of life. We are aware of at least 4 cases of pre- or perinatal onset of this condition, and report here on 2 brothers who were affected at birth and had an unusual clinical course with onset of peripheral gangrene that progressed to autoamputation of digits. Both boys died in infancy with pathological changes compatible with IND. The somewhat different clinical course in these brothers leaves open the possibility that this is a variant of neuroaxonal dystrophy due to an X-linked recessive mutation.
Authors:
A G Hunter; C L Jimenez; B F Carpenter; I MacDonald
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics     Volume:  28     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1987 Sep 
Date Detail:
Created Date:  1987-12-03     Completed Date:  1987-12-03     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  171-80     Citation Subset:  IM    
Affiliation:
Division of Genetics, Children's Hospital, Eastern Ontario, Canada.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / pathology*
Axons / pathology
Demyelinating Diseases / pathology*
Gangrene / pathology*
Humans
Infant, Newborn
Male

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


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