Craniocerebral magnetic resonance imaging measurement and findings in Lesch-Nyhan syndrome

James C O Harris, Roland R. Lee, Hyder A. Jinnah, Dean Foster Wong, Myron Yaster, R. Nick Bryan

Research output: Contribution to journalArticle

Abstract

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

Original languageEnglish (US)
Pages (from-to)547-553
Number of pages7
JournalArchives of Neurology
Volume55
Issue number4
DOIs
StatePublished - Apr 1998

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Lesch-Nyhan Syndrome
Magnetic Resonance Imaging
Reading
Movement Disorders
Basal Ganglia
Dystonic Disorders
Hypoxanthine Phosphoribosyltransferase
Self-Injurious Behavior
Hyperuricemia
Baltimore
Putamen
Brain
Skull
General Anesthesia
Atrophy
Syndrome
Outcome Assessment (Health Care)

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Craniocerebral magnetic resonance imaging measurement and findings in Lesch-Nyhan syndrome. / Harris, James C O; Lee, Roland R.; Jinnah, Hyder A.; Wong, Dean Foster; Yaster, Myron; Bryan, R. Nick.

In: Archives of Neurology, Vol. 55, No. 4, 04.1998, p. 547-553.

Research output: Contribution to journalArticle

Harris, James C O ; Lee, Roland R. ; Jinnah, Hyder A. ; Wong, Dean Foster ; Yaster, Myron ; Bryan, R. Nick. / Craniocerebral magnetic resonance imaging measurement and findings in Lesch-Nyhan syndrome. In: Archives of Neurology. 1998 ; Vol. 55, No. 4. pp. 547-553.
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