Failure to thrive, hepatic dysfunction, hypotonia, and cerebellar atrophy.
A 2-year-old with cerebrellar and gastrointestinal difficulties is presented. The differential diagnosis of this combination of clinical features is difficult but recently several of the conditions under consideration have been more precisely characterized from a molecular standpoint.
Chaves-Carballo
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Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO 61108, USA.
D002525:Cerebellar Cortex / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008099:Liver / Q000473:pathology*