Symmetrical infantile thalamic degeneration in two sibs

This is the first observation of two cases of symmetrical infantile thalamic degeneration with cell mineralisation in a family. Although it cannot be established at present, autosomal recessive inheritance of a metabolic error causing or predisposing to damage to specific areas of the central nervou...

Full description

Saved in:
Bibliographic Details
Published in:Journal of medical genetics 1981-12, Vol.18 (6), p.448-450
Main Authors: Abuelo, Dianne N, Barsel-Bowers, Gail, Tutschka, Barbara G, Ambler, Mary, Singer, Don B
Format: Article
Language:English
Subjects:
Female
Genes, Recessive
Genetic Counseling
Humans
Infant, Newborn
Male
Risk
Thalamic Diseases - genetics
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:This is the first observation of two cases of symmetrical infantile thalamic degeneration with cell mineralisation in a family. Although it cannot be established at present, autosomal recessive inheritance of a metabolic error causing or predisposing to damage to specific areas of the central nervous system is a possible aetiology for this condition.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.18.6.448