Çocuk Sağlığı ve Hastalıkları Dergisi 2014 , Vol 57 , Num 3
*Yeliz Çağan Appak1 F. Sırrı Çam2, Gülseren Evirgen Şahin2, Safiye Uluçay3, Angela Huebner4, Erhun Kasırga5
Celal Bayar Üniversitesi Tıp Fakültesi 1Pediatri Uzmanı, 2Tıbbi Genetik Doçenti, 3Tıbbi Genetik Araştırma Görevlisi, 5Pediatri Profesörü, Dresden Technical University Tıp Fakültesi 4Pediatri Profesörü
*İletişim: yelizcagan@yahoo.com
Triple A syndrome (Allgrove syndrome) is a rare autosomal recessive disease characterized by achalasia, alacrima, adrenal insufficiency, and progressive neurological syndrome. This syndrome is caused by mutations in the achalasiaaddisonianism- alacrima syndrome (AAAS) gene in the chromosome 12q13 region. We present a nine-year-old boy who had vomiting and progressive dysphagia since six years of age. Achalasia was determined with barium esophagography and esophagus manometric investigation. He had positive Schirmer test (<5 mm) and bilateral optic disc atrophy. The patient’s serum cortisol levels were normal and cortisol response was low with ACTH stimulation test. Genetic analysis revealed a homozygous mutation (c.1066_1067delCT) in exon 11 of the AAAS gene, and her younger brother and sister were heterozygous carriers of this mutation. For treatment of achalasia, calcium channel blocker therapy was started, and botulinum toxin was applied to the distal esophagus. The patient’s vomiting decreased but continued; his symptoms resolved after the implementation balloon dilation of the esophagus. Anahtar Kelimeler : triple A sendromu, AAAS gen mutasyonu, akalazya.
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