Novel Mutations in a Patient with Triple A Syndrome.
Article
Dans Anglais
| IMSEAR
| ID: sea-172057
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.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
langue:
Anglais
Année:
2015
Type:
Article
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS