Document Detail

Craniocerebral magnetic resonance imaging measurement and findings in Lesch-Nyhan syndrome.
MedLine Citation:
PMID:  9561984     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To provide the first comprehensive magnetic resonance imaging (MRI) assessment of brain in a series of patients with Lesch-Nyhan syndrome (LNS), with emphasis on basal ganglia measurements. DESIGN: Routine readings of MRI studies, repeated reading in random order blinded to subject diagnosis, and 3-dimensional volumetric measures of basal ganglia regions. SETTING: The Johns Hopkins Hospital, Baltimore, Md. PATIENTS: Seven patients with LNS who have hypoxanthine guanine phosphoribosyltransferase levels less than 1.6% and characteristic clinical features of the disorder, which include hyperuricemia, cognitive impairment, and dystonic movement disorder, were compared with 7 age-matched control subjects. Five of the 7 patients demonstrated self-injurious behavior. MRI studies were performed using general anesthesia because of the severity of the movement disorder. MAIN OUTCOME MEASURES: Measurement of brain regions from MRI-obtained images. RESULTS: Routine readings described mild cerebral atrophy in 2 of 7 patients, but no caudate or putamen abnormalities were reported. However, on the directed blinded rereading, small caudates were suspected in 5 of 7 cases, and abnormalities in cerebral size and cranium were identified. Volumetric studies of the patients with LNS confirmed a 34% decrease in caudate volume (P<.001), a 17% decrease in total cerebral volume (P<.03), and a 12% decrease in putamen volume (P=.19). CONCLUSIONS: To our knowledge, this is the first demonstration of consistent neuroanatomic abnormalities in LNS. The findings of reduced basal ganglia volume are consistent with the dystonic movement disorder.
J C Harris; R R Lee; H A Jinnah; D F Wong; M Yaster; R N Bryan
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Publication Detail:
Type:  Clinical Trial; Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Archives of neurology     Volume:  55     ISSN:  0003-9942     ISO Abbreviation:  Arch. Neurol.     Publication Date:  1998 Apr 
Date Detail:
Created Date:  1998-05-06     Completed Date:  1998-05-06     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0372436     Medline TA:  Arch Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  547-53     Citation Subset:  AIM; IM    
Department of Psychiatry and Behavioral Sciences, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
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MeSH Terms
Basal Ganglia / pathology*
Brain / pathology*
Caudate Nucleus / pathology
Lesch-Nyhan Syndrome / diagnosis*
Magnetic Resonance Imaging*
Putamen / pathology
Single-Blind Method
Grant Support

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