Document Detail


Autopsy findings in the Wolcott-Rallison syndrome.
MedLine Citation:
PMID:  9185226     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Wolcott-Rallison syndrome is a rare autosomal recessive condition characterized by diabetes mellitus arising in early infancy and multiple epiphyseal dysplasia. To date, nine cases have been described in the world literature. We report an affected girl who died at the age of 4 years and on whom a full autopsy was performed. In addition to neonatal diabetes mellitus and epiphyseal dysplasia, this child had mental retardation and recurrent episodes of self-limiting hepatic failure. Autopsy revealed severe pancreatic hypoplasia and markedly abnormal pancreatic histology, while histology of the bone was consistent with epiphyseal dysplasia. There was laryngeal stenosis and pulmonary hypoplasia. The heart was enlarged with mitral value dysplasia and stenosis, left atrial dilatation, left ventricular hypertrophy, and endocardial fibroelastosis. Examination of the central nervous system showed arrhinencephaly and cerebellar cortical dysplasia. The liver showed minor histological abnormalities but no features were present to account for the recurrent hepatic failure. In addition to Wolcott-Rallison syndrome this child had a deletion at 15q11-12 in 65% of her cells.
Authors:
C M Thornton; D J Carson; F J Stewart
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric pathology & laboratory medicine : journal of the Society for Pediatric Pathology, affiliated with the International Paediatric Pathology Association     Volume:  17     ISSN:  1077-1042     ISO Abbreviation:  Pediatr Pathol Lab Med     Publication Date:    1997 May-Jun
Date Detail:
Created Date:  1997-08-22     Completed Date:  1997-08-22     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9518033     Medline TA:  Pediatr Pathol Lab Med     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  487-96     Citation Subset:  IM    
Affiliation:
Department of Pathology, Royal Hospitals Trust, Belfast, Northern Ireland.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics,  pathology
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 15
Diabetes Mellitus, Type 1 / complications,  genetics,  pathology*
Epiphyses / abnormalities*
Female
Genes, Recessive
Humans
Liver Failure, Acute / complications,  genetics
Mitral Valve Stenosis / complications,  genetics,  pathology
Osteochondrodysplasias / complications,  genetics,  pathology*
Pancreas / pathology
Syndrome

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


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