Cerebral calcifications and cerebellar hypoplasia in two children: clinical, radiologic and neuropathological studies--a separate neurodevelopmental entity.
Two siblings with cerebral calcifications are described, clinically characterized by the early onset of general regression and epileptic seizures, followed by cerebral blindness and spastic tetraplegia. No remarkable biochemical abnormalities were found. Death ensued before the age of seven years. Radiology of the skull in the second case showed widespread calcifications, situated periventricularly, in the basal nuclei and in the cerebellum. In both cases postmortem examination revealed widespread calcifications, corpus callosum hypoplasia and hydrocephalus "a vacuo". Moreover retrocerebellar leptomeningeal "cysts" and hypoplasia of the cerebellum were found. A diffuse lack of axons appeared to be the main cause of the poor staining of the white matter. The diagnostic criteria are neurological regression, progressive calcification, hydrocephalus and hypoplasia of the corpus callosum and cerebellum. Five similar cases were found in the literature. Our cases and those from the literature probably belong to a separate entity, originally published by Laubenthal et al (1940).
D001927:Brain Diseases / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology; D002114:Calcinosis / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology; D002531:Cerebellum / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011859:Radiography