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Symmetrical infantile thalamic degeneration in two sibs
  1. Dianne N Abuelo,
  2. Gail Barsel-Bowers,
  3. Barbara G Tutschka,
  4. Mary Ambler,
  5. Don B Singer
  1. Department of Pediatrics, Rhode Island Hospital and Women and Infants Hospital, Brown University School of Medicine, USA
  2. Department of Pathology, Rhode Island Hospital and Women and Infants Hospital, Brown University School of Medicine, USA
  3. The Genetic Counseling Center, Rhode Island Hospital, USA

    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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