Novel Mutations in a Patient with Triple A Syndrome.

Autor: Sanghvi J; Department of Pediatrics and *Central Research Laboratory, Sri Aurobindo Medical College and PG Institute, Indore, Madhya Pradesh, India; and Klinik fur Kinder- und Jugendmedizin, Technische Universitat Dresden, Germany. Correspondence to: Dr Jyoti Sanghvi, Department of Pediatrics, Sri Aurobindo Medical College and PG Institute, Indore, Madhya Pradesh, India. jyotisanghvi@yahoo.com., Asati AA, Kumar R, Huebner A
Jazyk: angličtina
Zdroj: Indian pediatrics [Indian Pediatr] 2015 Sep; Vol. 52 (9), pp. 805-6.
DOI: 10.1007/s13312-015-0722-y
Abstrakt: Background: Triple A syndrome (Allgrove syndrome), a rare autosomal recessive disorder, is characterized by adrenal insufficiency, achalasia cardia and alacrimia. It is caused by mutations in AAAS gene which encodes a protein called ALADIN.
Case Characteristics: 8-year-old boy who presented with hypoglycemic seizures, dysphagia, dry eyes and hyperpigmentation. Investigations confirmed achalasia cardia and adrenal insufficiency. Sequencing of AAAS gene revealed two novel mutations in compound heterozygous state (c.1101delG/ c.1310_1311delCT).
Outcome: Patient was managed with hydrocortisone and artificial tears.
Message: Sequencing analysis should be done to confirm the diagnosis of clinically suspected Triple A syndrome.
Databáze: MEDLINE
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