Recurrent coma and Lesch-Nyhan syndrome.
A patient with Lesch-Nyhan syndrome has had 3 recurrent episodes of coma, each associated with an acute illness. Extensive investigation for known causes of coma has failed to yield a diagnosis. Although coma is not generally recognized as a feature of Lesch-Nyhan syndrome, similar patients have been reported previously. This and other episodic phenomena observed in Lesch-Nyhan syndrome may be explained by the disruption of cellular energy metabolism due to purine depletion, consequent to lack of the purine salvage pathway normally provided by the hypoxanthine-guanine-phosphoribosyl-transferase enzyme.
Lynch
B J
BJ
Department of Pediatrics, Washington University, St. Louis, Missouri.
Noetzel
M J
MJ
D003128:Coma / Q000209:etiology* / Q000523:psychology; D006801:Humans; D007223:Infant; D007926:Lesch-Nyhan Syndrome / Q000150:complications*; D008297:Male; D009397:Nephrocalcinosis / Q000150:complications; D011014:Pneumonia / Q000150:complications; D012008:Recurrence