Long-term follow-up of a child with Wolcott-Rallison syndrome

BMJ Case Rep. 2021 May 13;14(5):e242376. doi: 10.1136/bcr-2021-242376.

Abstract

Wolcott-Rallison syndrome (WRS), the most common cause of permanent neonatal diabetes mellitus (DM) in consanguineous families, has a poor prognosis, with a mean survival of 5.8 years. Majority of children with WRS succumb to the disease in the first decade of life. We present the long-term follow-up of an 8-year-2-month-old girl with genetically proven WRS who was born to a non-consanguineous parentage. She is on basal bolus regimen of insulin therapy for DM. In addition, she was noted to have features of skeletal dysplasia at 3 years and 3 months of age, which has led to her short stature. Surprisingly, she has had no episodes of hepatitis or liver dysfunction so far, which is frequently seen in children with WRS. To the best of our knowledge, she is the oldest surviving patient with WRS reported in India and South Asia.

Keywords: diabetes; metabolic disorders.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Diabetes Mellitus, Type 1* / complications
  • Diabetes Mellitus, Type 1* / drug therapy
  • Epiphyses / abnormalities
  • Epiphyses / diagnostic imaging
  • Female
  • Follow-Up Studies
  • Humans
  • India
  • Infant
  • Infant, Newborn
  • Mutation
  • Osteochondrodysplasias* / diagnosis
  • Osteochondrodysplasias* / genetics
  • eIF-2 Kinase / genetics

Substances

  • eIF-2 Kinase

Supplementary concepts

  • Wolcott-Rallison syndrome