Indian pediatrics · 2015
Novel Mutations in a Patient with Triple A Syndrome.
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Sanghvi Jyoti, Asati Ajit Anand, Kumar Ravindra, Huebner Angela
Аннотация
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.
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.