title: Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch-Nyhan Disease: A Case Report and Review of the Literature.
abstract: BACKGROUND
  Lesch-Nyhan disease (LND) is an X-linked disorder of purine metabolism, associated with self-mutilation, dystonia, and chorea. Seizures are uncommon in LND. Patients with LND are at risk for sudden and unexpected death. The etiology of this is unknown, but appears to occur from a respiratory process. We propose that respiratory failure secondary to subclinical seizure may lead to sudden death in these patients.
  
  
  METHODS
  We report a case of an 11-year-old boy with LND who had two episodes of nocturnal gasping. The second event was immediately followed by a 10 min generalized seizure. Upon arrival at the hospital, an arterial blood gas test revealed a severe respiratory acidosis. Following aggressive treatment of his seizures, this patient did well, and was discharged home on oxcarbazepine with rectal diazepam. No further seizures have been noted in 1 year of follow-up.
  
  
  CONCLUSIONS
  In this case report and review, we hypothesize that sudden death from respiratory failure in Lesch-Nyhan disease may in some cases be due to seizure-induced respiratory failure, akin to sudden unexpected death in epilepsy (SUDEP). We suggest screening for paroxysmal respiratory events; consideration of electroencephalography for patients with LND presenting in respiratory distress or failure; and consideration of more aggressive treatment of seizures in these patients. Brief Summary:We present an 11-year-old boy with Lesch-Nyhan disease (LND) who developed respiratory failure and severe respiratory acidosis from his first known seizure, which evolved to subclinical status epilepticus. We propose that patients with LND have a predisposition to respiratory failure and sudden death, which in some cases may be provoked by seizure (sudden unexpected death in epilepsy, or SUDEP).
authors.affiliation: Department of Pediatric Neurology, Oregon Health and Science University, Mail Code CDRC-P, 707 SW Gaines Street, Portland, OR, 97239, USA. christy@ohsu.edu.
authors.forename: Alison
authors.initials: A
authors.lastname: Christy
authors.affiliation: Department of Pediatrics, University of California, 9500 Gilman Drive #0830, La Jolla, San Diego, CA, 92093, USA.
authors.forename: William
authors.initials: W
authors.lastname: Nyhan
authors.affiliation: Department of Pediatric Neurology, Oregon Health and Science University, Mail Code CDRC-P, 707 SW Gaines Street, Portland, OR, 97239, USA.
authors.forename: Jenny
authors.initials: J
authors.lastname: Wilson
keywords: Epilepsy; HPRT; Lesch–Nyhan disease; SUDEP; Sudden death; Sudden death in epilepsy