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
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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