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THE FIRST CASE OF THE SANFILIPPO TYPE C SYNDROME IN SCANDINAVIA
Author(s) -
ARVIDSSON J.,
CHESTER M. A.,
HECHT H.
Publication year - 1983
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1983.tb09720.x
Subject(s) - medicine , mucopolysaccharidosis , pediatrics , disease , dementia
. A Swedish patient with typical symptoms of the Sanfilippo Syndrome (Mucopolysaccharidosis III) is described. The early onset of the disease, the presence of hepatomegaly, early dementia and the absence of umbilical bernia are consistent with the subgroup Sanfilippo A. Enzyme studies indicate the diagnosis Sanfilippo C, and thus the patient represents a more severe form of this subgroup than any of the four other patients hitherto described in detail.