Cerebellar Hypoplasia With Endosteal Sclerosis

Cerebellar hypoplasia with endosteal sclerosis appears to have been described first by Stoll et al. (1986). The parents in this case were consanguineous.

Charrow et al. (1991) described a brother and sister and an unrelated boy with congenital cerebellar hypoplasia and endosteal sclerosis. All 3 children presented with ataxia and developmental delay and were found to have microcephaly, short stature, oligodontia, strabismus, nystagmus, and congenital hip dislocation.

Ozgen et al. (2005) described the disorder in a girl who they had followed for 11 years. The major clinical symptoms were cerebellar hypoplasia causing ataxia, hypotonia, mild to moderate developmental delay, growth retardation, endosteal sclerosis, tooth eruption disturbances, and hip dislocations. The endosteal sclerosis remained stationary over time, as did the clinical neurologic symptoms, but neuroradiologic manifestations slowly progressed. Ozgen et al. (2005) concluded that the disorder is probably autosomal recessive.