Document Detail

Leigh's syndrome.
MedLine Citation:
PMID:  15572826     Owner:  NLM     Status:  MEDLINE    
A 15-month-old female child presented with sudden onset cough and hyperventilation along with evidence of metabolic acidosis. She had past history of recurrent vomiting, episodes of abnormal posturing, difficulty in deglutition and regression of milestones since 12 months of age. CT scan of the brain revealed hypodense lesions in bilateral basal ganglia and on MRI there were T2 hyperintensities in bilateral lentiform nuclei, caudate nuclei, thalamus, red nuclei and dentate nuclei. Biochemical examination revealed persistently elevated serum lactate levels with high lactate/pyruvate ratio. Resuscitative measures were of no avail and the child succumbed to the illness on the second day of admission. Neuropathological examination at autopsy demonstrated marked spongiosis, focal necrosis, endothelial proliferation, reactive astrogliosis and extensive demyelination involving bilateral basal ganglia, midbrain and spinal cord which were typical of Leigh's sub acute necrotizing encephalomyelopathy.
A A S R Mannan; M C Sharma; P Shrivastava; A M Ralte; V Gupta; M Behari; C Sarkar
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Indian journal of pediatrics     Volume:  71     ISSN:  0019-5456     ISO Abbreviation:  Indian J Pediatr     Publication Date:  2004 Nov 
Date Detail:
Created Date:  2004-12-01     Completed Date:  2005-01-18     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0417442     Medline TA:  Indian J Pediatr     Country:  India    
Other Details:
Languages:  eng     Pagination:  1029-33     Citation Subset:  IM    
Department of Pathology, All India Institute of Medical Sciences, New Delhi 110-029, India.
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MeSH Terms
Basal Ganglia / pathology*
Biopsy, Needle
Disease Progression
Fatal Outcome
Leigh Disease / diagnosis*,  physiopathology,  therapy
Magnetic Resonance Imaging
Risk Assessment
Severity of Illness Index

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