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Ultrastructural, neurological, and glycosaminoglycan abnormalities in Lowe's syndrome
Author(s) -
Wisniewski Krystyna E.,
Kieras Fred J.,
French Joseph H.,
Houck George E.,
Ramos Peter L.
Publication year - 1984
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.410160109
Subject(s) - glycosaminoglycan , excretion , endocrinology , heparan sulfate , medicine , pathology , leukodystrophy , urinary system , heparin , anatomy , disease
The oculocerebrorenal syndrome (OCRS), Lowe's syndrome, is an X‐linked, recessive disease characterized by mental retardation, congenital corneal abnormalities and cataracts, growth failure, rickets, osseous abnormalities, renal dysfunction with periodic acidosis, hypotonia, and areflexia. Ultrastructural studies of skin biopsy specimens in three individuals with the disorder (aged 17, 9, and 8 years) revealed cytoplasmic, membrane‐bound, electron‐lucent vacuoles and some electron‐dense membranous inclusion bodies in fibroblasts and Schwann cells, as well as axonal degeneration and vascular changes. Computed tomographic scans evidenced brain atrophy. Urinary excretion of glycosaminoglycans (GAG) was four to five times greater than in normal controls. The predominant urinary GAG was a low‐sulfated chondroitin‐4‐sulfate; chondroitin‐6‐sulfate and heparan sulfate excretion levels were normal. A tenfold increase in urinary GAG excretion was found in one patient with oculocerebrorenal syndrome during periods of behavioral agitation. These findings suggest that the clinical stigmata of oculocerebrorenal syndrome may be related to a defect in GAG metabolism.