Dysphagia due to triple A syndrome: successful treatment of achalasia by balloon dilatation

Buderus, S; Utsch, B; Huebner, A; Lentze, M J; Roth, C (2007). Dysphagia due to triple A syndrome: successful treatment of achalasia by balloon dilatation. Experimental and clinical endocrinology & diabetes, 115(8), pp. 533-6. Stuttgart: Thieme 10.1055/s-2007-973852

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Triple A syndrome is a rare autosomal recessive inherited disorder which is characterized by alacrima, adrenal insufficiency, and achalasia. We report on a 14-year old girl with dysphagia, regurgitation, and vomiting since 5 years. At the age of five years an Addison crisis was diagnosed and cortisone substitution was initiated. In addition, the patient had episodes of conjunctivitis. Severe esophagitis and candida infection were diagnosed by esophago-gastro-duodenoscopy and treated with omeprazole and fluconazole. The esophageal barium swallow was typical for achalasia. Medical treatment of achalasia with oral nifedipine resulted only in a partial and temporal improvement. But after seven balloon dilatations dysphagia and nocturnal coughing improved clearly and a remarkable gain of weight could be seen. Direct sequencing showed a homozygous nonsense mutation in exon 11 of the AAAS gene leading to truncation at position 342 of the 546 amino acid protein. CONCLUSION: Triple A syndrome has to be considered in patients with dysphagia. In our patient, the absence of tears since birth followed by adrenal insufficiency were early signs of the triple A syndrome. Balloon dilatation of the esophago-gastric junction is an effective treatment, which can avoid surgical interventions.

Item Type:	Journal Article (Further Contribution)
Division/Institute:	04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
UniBE Contributor:	Utsch, Boris
ISSN:	0947-7349
ISBN:	17853339
Publisher:	Thieme
Language:	English
Submitter:	Anette van Dorland
Date Deposited:	04 Oct 2013 14:55
Last Modified:	05 Dec 2022 14:17
Publisher DOI:	10.1055/s-2007-973852
PubMed ID:	17853339
Web of Science ID:	000250144000011
URI:	https://boris.unibe.ch/id/eprint/23451 (FactScience: 41873)