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

Citation
E. Kasirga et al., 4 SIBLINGS WITH ACHALASIA, ALACRIMIA AND NEUROLOGICAL ABNORMALITIES IN A CONSANGUINEOUS FAMILY, Clinical genetics, 49(6), 1996, pp. 296-299
Citations number
15
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00099163
Volume
49
Issue
6
Year of publication
1996
Pages
296 - 299
Database
ISI
SICI code
0009-9163(1996)49:6<296:4SWAAA>2.0.ZU;2-F
Abstract
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.