[Late neurologic complications of galactosemia: study of 3 cases].
Galactosemia is an autosomal recessive, inborn error of galactose metabolism due to the deficiency of galactose-I-phosphate uridyl transferase. Late-onset neurologic complications may develop despite Galactose restriction. Three adult patients are reported. They suffered from mental retardation. Two of them developed progressive cerebellar ataxia, spastic gait and postural tremor. The magnetic resonance imaging revealed moderate cortical atrophy, multifocal areas of increased signal in the periventricular white matter on T2-weighted images, and in one case, abnormal myelination. The Fluoro-2-deoxy-D-glucose position emission tomography showed different patterns of regional hypometabolism.
Bohu
P A
PA
Clinique Neurologique, Hôpital Charles Nicolle, Rouen.
Hannequin
D
D
Hemet
C
C
Brivet
M
M
Samson
Y
Y
Augustin
P
P
D000328:Adult; D001921:Brain / Q000378:metabolism; D005260:Female; D005693:Galactosemias / Q000150:complications*; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D008875:Middle Aged; D009422:Nervous System Diseases / Q000209:etiology*; D013997:Time Factors
Complications neurologiques tardives de la galactosémie: étude de trois cas.