OUP user menu

A new case of complete primary cerebellar agenesis: clinical and imaging findings in a living patient

Feng Yu, Qing-jun Jiang, Xi-yan Sun, Rong-wei Zhang
DOI: http://dx.doi.org/10.1093/brain/awu239 awu239 First published online: 22 August 2014


We read with great interest the articles previously published in Brain by Glickstein (1994) and Boyd (2010) describing the clinical evidence and review of cerebellar agenesis. Here we report a new case of a living patient whom we believe to be another patient with cerebellar agenesis. Cerebellar agenesis is an extremely rare condition implying complete absence of the cerebellum. The pathogenesis and molecular basis of this disease remain unknown. There are very few reported cases of complete cerebellar agenesis, making it challenging and controversial to understand the degree of cerebellum development necessary to avoid deficits in motor and non-motor functions. Further, a detailed description of neurological findings in a living adult with cerebellar agenesis is almost non-existent; most cases are reported based on autopsy reports. The patient presents with mild mental impairment and medium motor deficits. CT and MRI scans revealed no remnants of any cerebellar tissues, verifying complete absence of the cerebellum. A comprehensive literature review reveals novel implications for differential diagnosis. We conclude that primary cerebellar agenesis is actually the same diagnosis as Chiari malformation IV.

A 24-year-old female patient was admitted to hospital complaining of dizziness and the inability to walk steadily for more than 20 years, and nausea and vomiting for ∼1 month. She is married with a daughter, and her pregnancy and delivery were described as uneventful. Her parents had no history of neurological disorders. Her four sisters and one brother are described as neurologically normal. According to her mother, she was 4 years old before she could stand unassisted, and did not begin to walk unassisted until the age of 7, with a persistently unsteady gait. She never ran or jumped. Her speech was not intelligible until 6 years of age and she did not enter school. A neurological examination revealed she could …

View Full Text