A Case of Allgrove Syndrome with a Novel IVS7 +1 G>A Mutation of The AAAS Gene

「Introduction」 Allgrove syndrome, also known as triple A syndrome (OMIM #231550), is a rare autosomal recessive disorder characterized by the triad of adrenocorticotropic hormone (ACTH)-resistant adrenal insufficiency, achalasia and alacrima. It is caused by mutations of the AAAS gene, which is loca...

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Bibliographic Details
Published in:Clinical Pediatric Endocrinology 2012-01, Vol.21 (1), p.11-13
Main Authors: Satoru Ikemoto, Ken Sakurai, Naruo Kuwashima, Yoshihiro Saito, Ichiro Miyata, Noriyuki Katsumata, Hiroyuki Ida
Format: Article
Language:Japanese
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Summary:「Introduction」 Allgrove syndrome, also known as triple A syndrome (OMIM #231550), is a rare autosomal recessive disorder characterized by the triad of adrenocorticotropic hormone (ACTH)-resistant adrenal insufficiency, achalasia and alacrima. It is caused by mutations of the AAAS gene, which is located on chromosome 12q13, encoding the WD-repeat protein ALADIN (alacrima-achalasia-adrenal insufficiency neurologic disorder) (1). Herein, we present a case of a two-year-old girl with a genetically confirmed diagnosis of Allgrove syndrome resulting from a novel homozygous mutation of the AAAS gene. 「Patient Report」 The patient is a two-year-old Japanese girl born from consanguineous parents. She was born at term after an uncomplicated pregnancy. There was a consistent history of alacrima since birth. At the age of two years, she presented with generalized tonic-clonic seizure with hypoglycemia (
ISSN:0918-5739