TY - CHAP
T1 - Severe respiratory acidosis in status epilepticus as a possible etiology of sudden death in lesch–nyhan disease
T2 - A case report and review of the literature
AU - Christy, Alison
AU - Nyhan, William
AU - Wilson, Jenny
N1 - Publisher Copyright:
© SSIEM and Springer-Verlag Berlin Heidelberg 2017.
PY - 2017
Y1 - 2017
N2 - 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).
AB - 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).
KW - Epilepsy
KW - HPRT
KW - Lesch–Nyhan disease
KW - SUDEP
KW - Sudden death
KW - Sudden death in epilepsy
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UR - http://www.scopus.com/inward/citedby.url?scp=85060285524&partnerID=8YFLogxK
U2 - 10.1007/8904_2016_19
DO - 10.1007/8904_2016_19
M3 - Chapter
AN - SCOPUS:85060285524
T3 - JIMD Reports
SP - 23
EP - 28
BT - JIMD Reports
PB - Springer
ER -