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: Degeneration (medical); Etiology; Inheritance; Autosomal recessive inheritance

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