title: Four siblings with achalasia, alacrimia and neurological abnormalities in a consanguineous family.
abstract: Four siblings with achalasia, alacrimia and other problems involving the autonomic nervous system involvements are reported. Achalasia and alacrimia were present in all of them. Their parents are first cousins and have four other healthy children. Electrophysiological tests showed that autonomic dysfunction has progressed with age. Blood cortisol levels were normal in all four affected children. Depending on those findings of our case and previous reports, we conclude that triple-A syndrome and achalasia, alacrimia with or without neurological abnormalities could be variable manifestations of the same autosomal recessive gene defect.
authors.affiliation: Pediatric Gastroenterology Section, Department of Pediatrics, Faculty of Medicine, Ege University, Bornova-Izmir, Turkey.
authors.forename: E
authors.initials: E
authors.lastname: Kasirga
authors.forename: F
authors.initials: F
authors.lastname: Ozkinay
authors.forename: S
authors.initials: S
authors.lastname: Tütüncüoğlu
authors.forename: S
authors.initials: S
authors.lastname: Aydoğdu
authors.forename: Z
authors.initials: Z
authors.lastname: Colakoğlu
authors.forename: A
authors.initials: A
authors.lastname: Musoğlu
authors.forename: A
authors.initials: A
authors.lastname: Yağci
authors.forename: B
authors.initials: B
authors.lastname: Taneli
authors.forename: R V
authors.initials: RV
authors.lastname: Yağci
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004931:Esophageal Achalasia / Q000150:complications / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009422:Nervous System Diseases / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D013666:Tears / Q000378:metabolism*