CEREBELLAR AGENESIS - A CASE-REPORT WITH CLINICAL AND MR-IMAGING FINDINGS AND A REVIEW OF THE LITERATURE

We describe the clinical and MRT findings in a 22-year-old male patien t with absence of the cerebellum, an extremely rare anomaly. Clinical features included ataxia of limbs, gait and stance, cerebellar oculomo tor signs. MRI evaluation showed minute remnants of cerebellar tissue corresponding to the anterior quadrangular lobules. Nine previous case s of total or subtotal cerebellar agenesis have been reported, includi ng Combettes's first report in 1831. We report an additional case and provide MRI of this unusual anomaly detected during life. Diagnosis in this case was made on the basis of MR findings. To our knowledge, thi s is the fifth report of this disorder being diagnosed in a living pat ient. (C) 1998 Lippincott Williams & Wilkins.