Four siblings with achalasia, alacrimia and neurological abnormalities in a consanguineous family
Makaleler > Tam Makale · 1996
Yazarlar: E KASIRGA, Feriştah Ferda ÖZKINAY, S TUTUNCUOGLU, S AYDOGDU, Zafer ÇOLAKOĞLU, A MUSOGLU, AYŞE YAĞCI, B TANELI, RV YAGCI
CLINICAL GENETICS, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 1996, cilt 49, ss 296-299
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 these findings of our cases 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.