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


METHODS
Routine readings of MRI studies, repeated reading in random order blinded to subject diagnosis, and 3-dimensional volumetric measures of basal ganglia regions.


METHODS
The Johns Hopkins Hospital, Baltimore, Md.


METHODS
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.


METHODS
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.
Harris
J C
JC
Department of Psychiatry and Behavioral Sciences, The Johns Hopkins University School of Medicine, Baltimore, MD, USA. jamesharris@erols.com
Lee
R R
RR
Jinnah
H A
HA
Wong
D F
DF
Yaster
M
M
Bryan
R N
RN
D000328:Adult; D001284:Atrophy; D001479:Basal Ganglia / Q000473:pathology*; D001921:Brain / Q000473:pathology*; D002421:Caudate Nucleus / Q000473:pathology; D005260:Female; D006801:Humans; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D008297:Male; D011699:Putamen / Q000473:pathology; D016037:Single-Blind Method