Familial Amentia, Unusual Ventricular Calcifications, and Increased Cerebrospinal Fluid Protein
Abstract
A Sibship Originally Reported by Friedman and Roy1 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 Corresponded in Distribution to the Choroid Plexus. the Choroid Plexus Was Not Demonstrable in One Patient When Radiolabeled99m-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. © 1979 American Academy of Neurology.
Recommended Citation
I. T. Lott et al., "Familial Amentia, Unusual Ventricular Calcifications, and Increased Cerebrospinal Fluid Protein," Neurology, vol. 29, no. 12, pp. 1571 - 1577, Lippincott, Williams & Wilkins; American Academy of Neurology (AAN), Jan 1979.
The definitive version is available at https://doi.org/10.1212/WNL.29.12.1571
Department(s)
Chemistry
International Standard Serial Number (ISSN)
1526-632X; 0028-3878
Document Type
Article - Journal
Document Version
Citation
File Type
text
Language(s)
English
Rights
© 2023 Lippincott, Williams & Wilkins; American Academy of Neurology (AAN), All rights reserved.
Publication Date
01 Jan 1979
PubMed ID
315525
