Abstract
We have identified two brothers who appear to represent a previously undescribed disease. Their clinical problems include poor somatic growth (less than 3rd percentile), moderately severe psychomotor retardation, generalized spasticity, a non-paralytic esotropia, severe generalized osteoporosis resulting in pathologic fractures, and a “wizzened” facial appearance. At ages 18 months and 4 years there is no evidence of a degenerative course. There is no demonstrable renal, thyroid, parathyroid or nutritional problem. Histochemical studies of muscle demonstrate a strikingly dystrophic process. Routine and EM studies of bone show nonspecific osteoporosis. Gas chromatography-mass spectroscopy of urine indicates elevated glycerol concentrations in both patients.
In a survey of an institutionalized, mentally retarded population, four patients were noted to excrete glycerol in their urine (Ann. Med. Exp. Fenn. 45:90, 1967). Three exhibited spasticity but no additional clinical information was presented. Our patients appear to represent a previously unrecognized, apparently genetic syndrome, characterized by psychomotor retardation, spasticity, dystrophic myopathy, osteoporosis, and glyceroluria.
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Mccabe, E., Guggenheim, M., Fennessey, P. et al. GLYCEROIURIA, PSYCHOMOTOR RETARDATION, SPASTICITY DYSTROPHIC MYOPATHY, AND OSTEOPOROSIS IN A SIBSHIP. Pediatr Res 11, 527 (1977). https://doi.org/10.1203/00006450-197704000-00945
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DOI: https://doi.org/10.1203/00006450-197704000-00945