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2017 ; 35
(ä): 23-28
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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
#MMPMID27858372
Christy A
; Nyhan W
; Wilson J
JIMD Rep
2017[]; 35
(ä): 23-28
PMID27858372
show ga
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).