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Neuropediatrics 1985; 16(2): 98-105
DOI: 10.1055/s-2008-1052551
CASE REPORTS

© Georg Thieme Verlag KG Stuttgart · New York

Sanfilippo Disease, Type A with some Features of Ceroid Lipofuscinosis

K.  Wisniewski , R.  Rudelli , M.  Laure-Kamionowska1 , S.  Sklower , G. E. Houck , F.  Kieras Jr , P.  Ramos , H. M. Wisniewski , H.  Braak2
  • Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, New York 10314, USA
  • 1Department of Anatomy, Theodor Stern Kai 7, D-6000 Frankfurt, Federal Republic of Germany
  • 2Medical Research Center, Polish Academy of Sciences, Warsaw, Poland
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Publication History

Publication Date:
30 April 2008 (online)

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Abstract

Light microscopic, histochemical and electron-microscopic studies were made on the brain of a case (No. 1) with Sanfilippo disease, type A. In this case pigment preparations of the isocortex have been demonstrated. Ultrastructural investigations of the skin biopsies (his two male siblings) were also studied (cases 2, 3). Our three siblings of MPS III A, have demonstrated ceroid lipofuscin storage in the brain (case No. 1) and skin biopsies (cases No. 2 and 3) in addition to histological features of MPS. The biochemical studies (enzymatic identification) were made in the cultures of fibroblasts. Also, urine quantitative studies for MPS and N-sulfonate to hexosamino ratio were performed.

Key words

Mucopolysaccharidosis III A - Sanfilippo syndrome - Lipopigment preparations - Histochemistry - Electron microscopy - Lipid storage disease

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