4 SIBLINGS WITH ACHALASIA, ALACRIMIA AND NEUROLOGICAL ABNORMALITIES IN A CONSANGUINEOUS FAMILY

Four siblings with achalasia, alacrimia and other problems involving t he autonomic nervous system involvements are reported. Achalasia and a lacrimia were present in all of them. Their parents are first cousins and have four other healthy children. Electrophysiological tests showe d that autonomic dysfunction has progressed with age. Blood cortisol l evels were normal in all four affected children. Depending on these fi ndings of our cases and previous reports, we conclude that triple-A sy ndrome and achalasia, alacrimia with or without neurological abnormali ties could be variable manifestations of the same autosomal recessive gene defect.