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NEUROLOGY 2007;69:586-595
© 2007 American Academy of Neurology

Paroxysmal extreme pain disorder (previously familial rectal pain syndrome)

C. R. Fertleman, MD, C. D. Ferrie, MD, J. Aicardi, MD, N.A.F. Bednarek, MD, O. Eeg-Olofsson, PhD, F. V. Elmslie, MD, D. A. Griesemer, MD, F. Goutières, MD, M. Kirkpatrick, FRCPCH, I. N.O. Malmros, MD, M. Pollitzer, DCH, M. Rossiter, FRCPCH, E. Roulet-Perez, MD, R. Schubert, MD, V. V. Smith, PhD, H. Testard, MD, V. Wong, FRCPCH and J. B.P. Stephenson, DM

From the Royal Free and University College Medical School (C.R.F.), St George's Hospital (F.V.E.), North Middlesex University Hospital NHS Trust (M.R.), and Camelia Botnar Laboratories (V.V.S.), London, Leeds General Infirmary (C.D.F.), Ninewells Hospital (M.K.), Dundee, Royal Berkshire Hospital (M.P.), Reading, and Royal Hospital for Sick Children (J.B.P.S.), Glasgow, UK; Hôpital Robert-Debré (J.A.) and Necker-Enfants Malades Hospital (F.G.), Paris, American Memorial Hospital (N.A.F.B.), Reims, and Centre Hospitalier d'Annemasse (H.T.), France; Children's Hospital (O.E.-O.), Uppsala, and Hospital of Västervik (I.N.O.M.), Sweden; Medical University of South Carolina (D.A.G.), Charleston, and New York Methodist Hospital (R.S.), New York; Hospitalier Universitaire Vaudois (E.R.-P.), Switzerland; and University of Hong Kong (V.W.), China.

Address correspondence and reprint requests to Dr Ferrie, Department of Paediatric Neurology, Clarendon Wing, Leeds General Infirmary, Leeds, LS2 9NS, UK colindferrie{at}aol.com

Objective: To describe the clinical phenotype of paroxysmal extreme pain disorder (previously called familial rectal pain syndrome), an autosomal dominant condition recently shown to be a sodium channelopathy involving SCN9A.

Methods: An international consortium of clinicians, scientists, and affected families was formed. Clinical details of all accessible families worldwide were collected, including age at onset, features of attacks, problems between attacks, investigational results, treatments tried, and evolution over time. A validated pain questionnaire was completed by 14 affected individuals.

Results: Seventy-seven individuals from 15 families were identified. The onset of the disorder is in the neonatal period or infancy and persists throughout life. Autonomic manifestations predominate initially, with skin flushing in all and harlequin color change and tonic attacks in most. Dramatic syncopes with bradycardia and sometimes asystole are common. Later, the disorder is characterized by attacks of excruciating deep burning pain often in the rectal, ocular, or jaw areas, but also diffuse. Attacks are triggered by factors such as defecation, cold wind, eating, and emotion. Carbamazepine is effective in almost all who try it, but the response is often incomplete.

Conclusions: Paroxysmal extreme pain disorder is a highly distinctive sodium channelopathy with incompletely carbamazepine-sensitive bouts of pain and sympathetic nervous system dysfunction. It is most likely to be misdiagnosed as epilepsy and, particularly in infancy, as hyperekplexia and reflex anoxic seizures.

Supplemental data at www.neurology.org

Editorial, see page 505

Disclosure: The authors report no conflicts of interest.

Received August 2, 2006. Accepted in final form April 12, 2007.


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