Primary cerebellar agenesis presenting as isolated cognitive impairment

Abstract

Primary cerebellar agenesis is a rare entity. To the best of our knowledge, eleven living cases have been reported till date. Most of these were associated with some degree of motor impairment. We present a case of cerebellar agenesis in a child who presented with cognitive abnormalities leading to poor performance at school. No motor impairment was seen. Among the eleven cases reported earlier, only one case showed lack of motor impairment.

Pediatric Slow-Progressive, but Not Non-Progressive Cerebellar Ataxia Delays Intra-Limb Anticipatory Postural Adjustments in the Upper Arm

“…This idea stems from a series of observations about the motor behavior in subjects suffering from cerebellar agenesis, i.e., a loss of about 85 billion neurons [ 27 ], which should produce a catastrophe in motor behavior (see also Lemon and Edgley [ 28 ]). After the initial report by Combettes [ 29 ], the literature describes a few other cases of complete (or almost complete) cerebellar agenesis, in which patients showed a “mild or moderate” motor impairment [ 30 , 31 , 32 , 33 , 34 , 35 ]. In any case, these patients displayed a much less severe motor impairment than that usually seen after acute cerebellar damage.…”