Although the curiously named familial rectal pain syndrome is without doubt very rare, we have had clinical contact with three families and made or seen ictal video-recordings of three children and one adult, supporting the suggestion that this unpleasant disorder is also underdiagnosed (75). Familial rectal pain syndrome is dominantly inherited, but apparently sporadic cases occur. The presenting feature is dramatic neonatal seizures. Schubert and Cracco (76) thought these might be epileptic seizures, in part because there was a favorable response to carbamazepine, but in our patients there was no independent suggestion of epilepsy, and no paroxysmal EEG discharges during many observed seizures. There were two important clues to the diagnosis. First, there were frequent striking harlequin color changes. In particular, one side of the face would turn red while the other side would turn white. Secondly, the precipitating factor for the seizures was some sort of perineal stimulation, such as wiping or cleaning. Actually the seizures appeared to be very severe syncopes, quite similar to those seen in neonatal hyperekplexia, with bradycardia and sometimes asystole, a slowing and then flattening of the EEG, and generally a life-threatening appearance. Eventually, these syncopes abated, but the adults with a similar neonatal history described continuing attacks of excruciating pain maximum in the nether regions, and precipitated by stimuli such as passing a constipated stool.
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