E. Kasirga et al., 4 SIBLINGS WITH ACHALASIA, ALACRIMIA AND NEUROLOGICAL ABNORMALITIES IN A CONSANGUINEOUS FAMILY, Clinical genetics, 49(6), 1996, pp. 296-299
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.