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The morquio syndrome: Neuropathologyxs and biochemistry
Author(s) -
Koto Atsuo,
Horwitz Allen L.,
Suzuki Kinuko,
Tiffany Carol W.,
Suzuki Kunihiko
Publication year - 1978
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410040106
Subject(s) - hurler syndrome , pathology , ultrastructure , cerebral cortex , basal ganglia , galactosamine , chemistry , inclusion bodies , homogeneous , anatomy , biology , medicine , biochemistry , endocrinology , central nervous system , disease , physics , thermodynamics , escherichia coli , gene , glucosamine
The activity of N ‐acetyl galactosamine‐6‐sulfate sulfatase was studied for the first time in the liver and brain of a patient with a clinically typical case of Morquio syndrome with keratosulfaturia. As has been demonstrated in the fibroblasts of patients with this syndrome, this enzymatic activity was markedly decreased in both organs. Neuropathological examination revealed moderately swollen neurons containing PAS‐positive, coarse globular inclusions in the cerebral cortex, Ammon's horn, basal ganglia, and thalamic nuclei. Ultrastructurally, the inclusions consisted of stacked, straight or loose, wavy membranes of various lengths, often associated with pale or moderately electron dense homogeneous “lipid droplets.” These ultrastructural features of the inclusions were closely similar to the granulomembranous bodies of Hurler syndrome and the inclusions described in type B of the Sanfilippo syndrome. Unlike those mucopolysaccharidoses, however, no abnormalities were found in the gangliosides in the brain of the patient with Morquio syndrome.