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Atypical expression of ß‐galactosidase deficiency in a child with Hurler‐like features but without neurological abnormalities
Author(s) -
Andria Generoso,
Giudice Ennio Del,
Reuser Arnold J. J.
Publication year - 1978
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1978.tb02055.x
Subject(s) - hepatosplenomegaly , pathology , lysosomal storage disease , bone marrow , biology , gangliosidosis , medicine , disease
A 28‐month‐old child was found to have several clinical features of lysosomal storage diseases, including: coarse facies, hepatosplenomegaly, lumbar kyphosis due to hypoplastic beaked L 1 and L 2 vertebral bodies, vacuolated lymphocytes in blood smears and rare foamy hystiocytes in bone marrow. However, no signs of neurological or ocular abnormalities were detected. A β‐galactosidase deficiency was demonstrated in leukocytes and cultured skin fibroblasts, with a residual activity toward 4‐methylumbelliferyl‐β‐galactopyranoside ranging between 5 and 15% of the normal mean. Normal activities were found for several other lysosomal acid hydrolases. β‐galactosidase activities in leukocytes and cultured skin fibroblasts from both parents were within the normal ranges. The patient seems to represent an atypical expression of acid β‐galactosidase deficiency, since his clinical picture does not exactly correspond to that of either the two classical types of GM 1 ‐gangliosidosis or other atypical patients reported in the literature having β‐galactosidase deficiency.