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

Alison Christy, William Nyhan, Jenny Wilson

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations

Abstract

Introduction: 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. Case: 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).

Original languageEnglish (US)
Title of host publicationJIMD Reports
PublisherSpringer
Pages23-28
Number of pages6
DOIs
StatePublished - 2017

Publication series

NameJIMD Reports
Volume35
ISSN (Print)2192-8304
ISSN (Electronic)2192-8312

Keywords

  • Epilepsy
  • HPRT
  • Lesch–Nyhan disease
  • Sudden death
  • Sudden death in epilepsy
  • SUDEP

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Biochemistry, Genetics and Molecular Biology (miscellaneous)

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