Abstract
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.
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Sanghvi, J., Asati, A.A., Kumar, R. et al. Novel mutations in a patient with triple a syndrome. Indian Pediatr 52, 805–806 (2015). https://doi.org/10.1007/s13312-015-0722-y
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DOI: https://doi.org/10.1007/s13312-015-0722-y