Fatal outcome in a case of pontocerebellar hypoplasia type 2

Pontocerebellar hypoplasia (PCH) is a very rare congenital (autosomal reces sive) condition with fetal onset. Only a few cases have been published on t he basis of both clinical data (symptoms/neuroradiological imaging) and aut opsy results. This paper reports on such a case involving a 1.5-year-old ma le infant. The child suffered from severe psychomotor delay, extrapyramidal dyskinesia and epileptic seizures, but did not exhibit signs of spinal mus cular atrophy as related to PCH type 1. Magnetic resonance imaging (MRI) at the age of 6 months demonstrated olivo-pontine and bilateral cerebellar hy poplasia. The boy was unexpectedly found dead. Autopsy disclosed a severe a spiration of gastric contents as the final cause of death. The neuropatholo gical examination confirmed PCH type 2 (according to Earth [Brain Dev., 15 (1993) 411-422]) with marked microcephaly and olivopontocerebellar hypoplas ia. Histologically, decreased density of olivo-pontine neurons, reduction o f granular and Purkinje's cell layers of the cerebellum, slight astroglial proliferation and fragmented appearance of the dentate nuclei were observed . The immunohistochemical expression pattern was determined using antibodie s against glial fibrillary acidic protein, synaptophysin and neurofilament pl otc in. Summarizing, typical features of PCH type 2 were present and pro ved by clinical course, MRI and autopsy. Despite severe symptoms due to a n atural disease this rare neurogenetic entity can become of forensic interes t, when sudden unexpected death occurs. (C) 2000 Elsevier Science ireland L td. All rights reserved.