Congenital disorder of glycosylation type Ia presenting as early-onset cerebellar ataxia in an adult.
Congenital disorders of glycosylation (CDG) are a recently described, underrecognized group of syndromes characterized biochemically by abnormal glycosylation of serum and cellular glycoproteins. We report a previously undiagnosed adult male who presented with early-onset cerebellar ataxia in the context of mental impairment, peripheral neuropathy, retinopathy, body dysmorphism, cardiomyopathy, and hypogonadism. Newly available screening and genetic testing confirmed the diagnosis as CDG type Ia. This case emphasizes that CDG should be considered as a differential diagnosis for adults with early-onset cerebellar ataxia, particularly in those persons with the aforementioned features, and that undiagnosed cases of childhood ataxia may require reassessment now that testing is available.
Department of Neurology, Royal Brisbane and Women's Hospital, Brisbane, Australia. schoffer@bigpond.net.au
Kerrie L
KL
Schoffer
John D
JD
O'Sullivan
Jim
J
McGill
D000328:Adult; D001921:Brain / Q000473:pathology; D002524:Cerebellar Ataxia / Q000175:diagnosis*; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis*; D003937:Diagnosis, Differential; D006031:Glycosylation; D006801:Humans; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D012016:Reference Values; D014168:Transferrin / Q000737:chemistry
D014168:Transferrin