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Neuropediatrics 1989; 20(2): 90-92
DOI: 10.1055/s-2008-1071272
Original article

© Georg Thieme Verlag KG Stuttgart · New York

Sanfilippo Disease, Type C: Three Cases in the Same Family

I.  Turki1 , H.  Kresse3 , J.  Scotto2 , M.  Tardieu1,2
  • 1Service de Neurologie, Département de Pédiatrie Unitê 56, Hôpital de Bicêtre, Le Kremlin-Bicêtre 94275 Cedex, France
  • 2INSERM Unité 56, Hôpital de Bicêtre, Le Kremlin-Bicêtre 94275 Cedex, France
  • 3Westfälische Wilhelms-Universität, Institut für Physiologische Chemie und Pathobiochemie, D-4400 Münster, Federal Republic of Germany
Further Information

Publication History

Publication Date:
19 March 2008 (online)

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Abstract

Six siblings were followed, three of them suffering from a Sanfilippo disease, type C, as demonstrated by a deficient glucosamine acetyltransferase activity in cultured skin fibroblasts. Clinical and radiological findings were similar in the three affected children and the phenotypical expression of the disease allowed no distinction between the different types of Sanfilippo disease. Ultrastructural studies of the liver demonstrated characteristic intra-vacuolar inclusions.

Key words

Mucopolysaccharidosis - Sanfilippo syndrome

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