Indian Pediatrics 2015-Sep
Novel Mutations in a Patient with Triple A Syndrome.
Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
Kiungo kimehifadhiwa kwenye clipboard
Maneno muhimu
Kikemikali
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.
METHODS
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).
RESULTS
Patient was managed with hydrocortisone and artificial tears.
CONCLUSIONS
Sequencing analysis should be done to confirm the diagnosis of clinically suspected Triple A syndrome.
