Symmetrical infantile thalamic degeneration in two sibs

• DOI: 10.1136/jmg.18.6.448
• Publication Date: 2008-11-10T19:52:06Z
• Authors: D. N Abuelo; G. Barsel-Bowers; B. G Tutschka; M. Ambler; D. B Singer
• Keywords: Male; Risk; 03 medical and health sciences; 0302 clinical medicine; Infant, Newborn; Humans; Female; Genes, Recessive; Genetic Counseling; Thalamic Diseases; 3. Good health

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.