No abstract

A progressive pancerebellar syndrome in a 57-year-old man heralded what was subsequently diagnosed by malabsorption studies and jejunal biopsy as adult celiac disease. Postmortem examination demonstrated characteristic gastrointestinal and cerebral abnormalities associated with this enteropathy. The neuropathology underlying the ataxia, as well as the clinical features of palatal myoclonus and marked speech impairment, included marked cerebellar cortical atrophy with cell loss in dentate and olivary nuclei. Intestinal-absorption studies are indicated to evaluate patients with any neurologic illness that may be related to malabsorption.

No abstract

We studied three cases (two of them siblings) with ocular and cerebral dysgenesis (Walker-Warburg syndrome). The histologic changes suggest that the disorder results from a sclerosing meningoencephalitis active through the second and third trimesters, but different from that typically encountered with known congenital pathogens. This illness was encountered first in the 1930s and has been reported with increasing frequency since 1970. The risk of recurrence among siblings exceeds 50%, with a predilection for involving consecutive siblings, a high incidence of reproductive failure, and no transmission across generations. The evidence suggests that an acquired agent may be transmitted transplacentally through consecutive pregnancies.