Familial rectal pain: a familial autonomic disorder as a cause of paroxysmal attacks in the newborn baby

Abstract

A 2‐day‐old baby exhibited impressive paroxysmal attacks consisting of bradycardia, bronchospasm and vasomotor fits (Harlequin type) related to a rare, dominantly inherited form of dysautonomy called “familial rectal pain”. These events were recurrently triggered by emotion, diaper changes or wiping of the perineal areas or eating. Sometimes they occurred spontaneously. Carbamazepine had an excellent effect on the fainting. At four years of age, the child had normal psychomotor development with only minimal symptoms, and very rare paroxysmal attacks. The father of the child has minimal symptoms of this entity, with essentially ocular manifestations. Familial rectal pain is a very rare entity that must always be considered as a possible aetiology of any life‐threatening event in an infant because of the availability of a very effective treatment. The existence of minimal forms of familial rectal pain is possible, and it is likely that this entity is underdiagnosed. [Published with video sequences].