A Novel AAAS Gene Mutation in Allgrove Syndrome: Case Report and Genetic Insights from a Chinese Xinjiang Girl.

Objective: Allgrove Syndrome (AS), also known as Triple A syndrome (AAAS) is a rare autosomal recessive disorder characterized by a triad of alacrima, achalasia of the cardia, and ACTH-resistant adrenocortical insufficiency. The study aimed to broaden the understanding of AS's pathogenesis and clinical presentations within the Chinese population by identifying a novel mutation in the AAAS gene through genetic analysis.

Case report: A four-year-old girl presented with short stature and recurrent vomiting for over two years. She had never been able to produce tears. Her physical examination showed short stature, undernourishment, dark pigmented dry skin, and reduced subcutaneous fat. The absence of lacrimal gland function was confirmed, and a barium meal test indicated a diagnosis of cardia achalasia. The patient was diagnosed with AS after genetic testing revealed a homozygous mutation, c.904_905delinsG, in exon 9 of the AAAS gene. Both parents were identified as carriers of the mutation, each presenting as heterozygous. Symptomatic supportive care was provided, including anti-inflammatory, hemostatic, acid-suppressive, antispasmodic, and rehydration therapies. A laparoscopic Heller myotomy was performed, which involved incising the muscular layer of the cardia and a gastric fundoplication. Postoperatively, the patient showed smooth feeding, upper gastrointestinal contrast barium passed without obstruction. The patient showed significant improvement and was discharged. The proband's sister was diagnosed with adrenal insufficiency based on hormonal levels and imaging.

Conclusions: Genetic testing is instrumental in diagnosing AS, and prompt diagnosis can significantly enhance the quality of life for affected children. The study documented a novel mutation in AS, extending the diversity of known genetic variants. For patients with esophageal achalasia, the choice between balloon dilation and laparoscopic Heller's surgery should be individualized. Early identification and management of AS can significantly benefit affected children.