T1 pre-gad SPGR pre-gad T2

Diagnosis: Congenital cerebellar hypoplasia

Cerebellar and/or vermian hypoplasia is seen in several congenital disorders including Dandy-Walker complex, Joubert syndrome, rhombencephalosynapsis, and the hereditary ataxias which are a group of complex and poorly understood disorders. These patients present with hereditary ataxia which may be progressive, developmental and/or speech delay to a variable degree. Some patients with cerebellar atrophy are found to have autism. A unique form of cerebellar hypoplasia is autosomal recessive with multiple cases reported in the same families often with consanguinity. Other causes of cerebellar hypoplasia, which tend to be seen more in adults, include autosomal dominant cerebellar degeneration where the cerebellum was normal initially, as well as toxic cerebellar atrophy which may be seen in alcoholism and chronic antiseizure medications most notably Dilantin. This patient was thought to have a hereditary with cerebellar hypoplasia. Related Cases

Barth PG. Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dec, Nov-Dec 1993; 15(6): p:411-22.

Mathews KD, Afifi Ak, Hanson JW. Autosomal recessive cerebellar hypoplasia. J Child Neurol, Jan 1991; 6(1):90.

Koskinen T, Valanne L, Ketonen LM, et al. Infantile-onset spinocerebellar ataxia: MR and CT findings. AJNR, Aug 1995; 16(7):p1427-33.

Chiari I Dandy-Walker Cerebellar degeneration