Four siblings with achalasia, alacrimia and neurological abnormalities in a consanguineous family
Makaleler > Tam Makale · 1996
Yazarlar: Erhun Kasirga, Feriştah Ferda ÖZKINAY, Sarenur Tütüncuoğlu, Sema AYDOĞDU, Zafer Çolakoğlu, Ahmet Musoğlu, AYŞE YAĞCI, Baha Taneli, Raşit V. Yağci
Clinical Genetics, Uluslararası, 1996, cilt 49, ss 296-299
DOI: 10.1111/j.1399-0004.1996.tb03791.x
Özet
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.