What's in a name--familial rectal pain syndrome becomes paroxysmal extreme pain disorder

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Abstract
The disorder starts in the neonatal period (possibly in utero) and is lifelong. Its most characteristic clinical features are attacks of excruciating pain that affect various parts of the body, including the rectum, genitalia, face and limbs. In addition, other features reflecting autonomic dysfunction occur, including harlequin colour changes and pupillary abnormalities. Some patients with the disorder experience non-epileptic tonic seizures during severe episodes of pain. These may be associated with cardiac asystole.