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August 1967

Oculocerebrorenal Syndrome in a Female Child

Author Affiliations

From the Second Department of Pediatrics, Faculty of Pediatrics (Dr. švorc), Central Biochemical Laboratories, faculties of Pediatrics (Dr. Masopust) and Medicine (Dr. Komárková), Research Institute of Child Development, Faculty of Pediatrics (Dr. Macek), and the Central Biochemical Laboratories of Policlinic, Faculty of Medicine (Dr. Hyánek), Charles University, Prague.

Am J Dis Child. 1967;114(2):186-190. doi:10.1001/archpedi.1967.02090230116015

LOWE ET AL1 have described a disease characterized by organic aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation. Since their original report, approximately 50 cases have been published.2 The disease is called the oculocerebrorenal syndrome or Lowe's syndrome. It is a congenital condition, manifested by ocular defects (cataracts, glaucoma, nystagmus), central nervous system defects (mental retardation, generalized hypotonia, tendon hyporeflexia), and kidney damage (permanent proteinuria). Biochemical abnormalities include metabolic acidosis, proteinuria, hyperamino-aciduria, and organic aciduria.

All patients with this syndrome described to date have been of the male sex with the exception of the cases of Scholten.3 The purpose of this paper is to report an example of Lowe's syndrome occurring in a female child.

Report of a Case  History.—This female child was the product of the mother's second pregnancy. The mother and father are living and well. An 8-year-old sister and a younger brother

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