Untreated Classic Galactosemia – a rare cause of adult-onset progressive cerebellar ataxia: A case report.
Ioannis Karafyllis,
Jean-Marc Nuoffer,
Joan-Philipp Michelis
et al.
Abstract:Introduction: Identifying the underlying etiology of nonfamilial adult-onset progressive cerebellar ataxia is often challenging because neurologists must consider almost all nongenetic and genetic causes of ataxia. Case Presentation: A 39-year-old woman was hospitalized for progressive ataxia with pyramidal and cognitive dysfunction after a right arm shaking and coordination problem deteriorated progressively over 1.5 years. The patient's medical history included amenorrhea, cataracts, developmental delays, co… Show more
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