Neuropediatrics 2017; 48(S 01): S1-S45
DOI: 10.1055/s-0037-1602943
PP – Poster Presentations
Georg Thieme Verlag KG Stuttgart · New York

Paroxysmal Extreme Pain Disorder in a Girl at the Age of Three Months, Confirmed by Mutation of the SCN9A Gene

M. Balci
1   Department of Neuropadiatrics, Vestische Kinder- und Jugendklinik Datteln, Deutschland
,
K. Rostasy
2   Deutsches Kinderschmerzzentrum, Vestische Kinder- und Jugendklinik Datteln, Deutschland
,
M. Frosch
1   Department of Neuropadiatrics, Vestische Kinder- und Jugendklinik Datteln, Deutschland
› Author Affiliations
Further Information

Publication History

Publication Date:
26 April 2017 (online)

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Background/Purpose: A girl at the age of 3 months was presented with a sudden extreme pain reaction, accompanied by cramping of the legs and an autonomous dysfunction (skin flushing) after rectal application of an ibuprofen cup. This clinical description was suspicious for a paroxysmal extreme pain disorder (PEPD) of infancy. PEPD is a very rare autosomal dominant inherited disorder caused by mutations in the SCN9A gene. The SCN9A gene encodes a subunit of the voltage-dependent sodium channel Nav1.7.

Methods: We describe the course of disease in this child and the family history. Targeted sequencing of the SCN9A gene was performed.

Results: Heterozygous mutation in the SCN9A gene (c.4880T> C; p.Met1627Thr (het.) could be demonstrated in the patient and her mother. So the symptoms could be assigned to PEPD. On the basis of this case, the influence of the Na-channel disease on the pain perception is shown.

Conclusion: The suspicion diagnosis of a “paroxysmal extreme pain disorder” was confirmed by means of genetic diagnostics. To avoid further complications of the disease, early establishing of this rare disorder could be helpful.