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Introduction: Lesch-Nyhan syndrome (LNS) is a rare genetic disease secondary to a HPRT1 mutation on chromosome X. It is characterized by dystonia, developmental delay, hyperuricemia and self-harming behaviours. The HPRT enzyme is implicated in the purine salvage pathway. The deficiency of HPRT results in accumulation of uric acid. There have been some cases associated with epilepsy, but it still remains a rare occurrence in LNS patients.

Case presentation: We describe the case of a 20-month-old male patient with a heterozygous HPRT1 mutation c11_17del. p (Arg4Leufs* 4) associated with LNS. The child associated epileptic seizures mistaken by his parents as non-epileptic sleep events associated with apnea. Seizures were discovered secondary to a polygraphic long-time sleep video-electroencephalography (EEG) monitoring. The dystonic movements and epileptic seizures responded to …