Novel Mutations in a Patient with Triple A Syndrome.

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.

Pantoea dispersa: an unusual cause of neonatal sepsis

Neonatal septicemia is the most important cause of neonatal mortality. A wide variety of bacteria both aerobic and anaerobic can cause neonatal sepsis. Genus Pantoea is a member of Enterobacteriaceae family that inhabits plants, soil and water and rarely causes human infections, however, Pantoea dispersa has not been reported as a causative organism for neonatal sepsis. We hereby report two neonates with early onset sepsis caused by Pantoea dispersa. Early detection and appropriate antibiotic therapy can improve overall outcome of this rare infection in neonates.