Symmetrical infantile thalamic degeneration in two sibs
Male
Risk
03 medical and health sciences
0302 clinical medicine
Infant, Newborn
Humans
Female
Genes, Recessive
Genetic Counseling
Thalamic Diseases
3. Good health
DOI:
10.1136/jmg.18.6.448
Publication Date:
2008-11-10T19:52:06Z
AUTHORS (5)
ABSTRACT
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.
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