Clinical and MRI findings of cerebellar agenesis in two livi
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Cerebellar agenesis (CA) is an extremely rare entity. This article presents two adult patients with CA. The 61-year-old man had ataxia, dysarthria, abnormalities in cerebellar tests, severe cognitive impairment, and moderate mental retardation. The 26-year-old woman had dysmetria, dysdiadochokinesia, and dysarthria as well as mild cognitive impairment and mild mental retardation.

Magnetic resonance imaging (MRI) showed a complete absence of the cerebellum with small residual vermis. The brainstem was hypoplastic and structures above tentorium were normal. Supratentorial white matter bundles were unaffected in diffusion tensor tractography. Only few adult patients with CA have so far been published. These cases show that patients with CA present with a variety of developmental, clinical, and mental abnormalities; and emphasize the role of the cerebellum in the normal motor, language, and mental development.

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