Familial amentia, unusual ventricular calcifications, and increased cerebrospinal fluid protein.
A sibship originally reported by Friedman and Roy as showing severe mental retardation, strabismus, hyperactive tendon reflexes, lalling speech, and foot deformities was restudied. Three major additional findings were noted. The cerebrospinal fluid protein concentration was increased two to three times above normal in four siblings who were available for study. Radiographs of cranial structures in three siblings showed identical pathologic intracranial calcifications which correspond in distribution to the choroid plexus. The choroid plexus was not demonstrable in one patient when radiolabeled 99m-Tc-pertechnetate was injected without perchlorate. Neuropathologic findings in one sibling included small subcortical heterotopias and atrophy of the choroid plexus with encasement by glial fibrils. These findings denote a new heredofamilial neurologic syndrome associated with mental retardation and a disorder of choroid plexus.
D001284:Atrophy; D002114:Calcinosis / Q000235:genetics* / Q000473:pathology; D002552:Cerebral Ventricles / Q000473:pathology; D014695:Cerebral Ventriculography; D002556:Cerebrospinal Fluid Proteins / Q000032:analysis*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008297:Male; D009431:Neural Conduction; D009468:Neuromuscular Diseases / Q000235:genetics; D010375:Pedigree; D012021:Reflex, Abnormal / Q000235:genetics; D013577:Syndrome
D002556:Cerebrospinal Fluid Proteins