Wolcott-Rallison Syndrome With Different Clinical Presentations and Genetic Patterns in 2 Infants.

摘要

Wolcott-Rallison syndrome is a rare disease presenting with insulin-dependent diabetes mellitus (DM) before 6 months old, skeletal dysplasia after 6 months old, and liver failure. Other manifestations are renal failure, microcephaly, epilepsy, central hypothyroidism, neutropenia, and dental and dermal problems. The cases were 2 patients from 2 different states of Iran (Khoozestan and Fars) who had developed DM before 6 months old. The first one was a 7-month-old infant who was healthy; in the genetic study (screening), autosomal recessive pattern and novel deletion in EIF2AK3 were reported; her sister had died at 5.5 years old due to diabetic ketoacidosis (DKA) that was associated with liver and renal failure. The second patient had developed DKA at 45 days old, which was associated with mild acute tubular necrosis and abnormal coagulation tests at onset clinical presentation, which were then resolved. He was treated with insulin, and at follow-up, the laboratory data are normal; in the genetic study, EIF2AK3 nonsense homozygous mutation was diagnosed. Genetic study of patients with insulin-dependent DM before 6 months old, especially those with DKA and associated with or without other disorders; attention to novel deletion of in EIF2AK3 gene; screening for skeletal dysplasia after 1 year old; and renal, liver, pancreatic, and thyroid function tests are recommended.