Document Detail


An autopsy case of atypical adrenoleukomyeloneuropathy in childhood.
MedLine Citation:
PMID:  11042424     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Adrenoleukomyeloneuropathy (ALMN) usually occurs in adulthood, it being extremely rare in childhood. We reported a quite atypical clinical case of ALMN as a variant of adrenoleukodystrophy (ALD). The onset was at 5 years 7 months and ataxia was the major symptom. His condition progressed rapidly to a vegetative state within 1 year. At the age of 11 years and 11 months he died of pneumonia and an autopsy was performed. We herein reported the neuropathological findings in this rare case. The autopsy revealed marked atrophy with diffuse demyelination and astrogliosis throughout the cerebrum, cerebellum and brainstem. Massive degeneration of the pyramidal tracts and loss of neurons were also seen in the spinal cord. The adrenal cortex showed marked atrophy with a striated cytoplasm in ballooned cells. These findings include pathological characteristics of both ALD and adrenomyeloneuropathy (AMN), suggesting ALMN. However, diffuse demyelination with gliosis in the cerebrum and cerebellum is quite atypical for ALMN. They might explain his atypical clinical course, especially the early onset of the disease with ataxia and rapid deterioration.
Authors:
M Kurihara; K Kumagai; Y Noda; S Yagishita
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Brain & development     Volume:  22     ISSN:  0387-7604     ISO Abbreviation:  Brain Dev.     Publication Date:  2000 Sep 
Date Detail:
Created Date:  2000-12-01     Completed Date:  2000-12-22     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  394-7     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, The Kanagawa Rehabilitation Center, 156 Nanasawa, Atsugi, 243-0121, Kanagawa, Japan. manakurihara@mub.biglobe.ne.jp
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MeSH Terms
Descriptor/Qualifier:
Adrenoleukodystrophy / pathology*
Age of Onset
Atrophy / pathology
Autopsy
Brain / pathology*
Child
Disease Progression
Fatal Outcome
Humans
Magnetic Resonance Imaging
Male

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


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