Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients

Orphanet J Rare Dis. 2016 Feb 10;11:14. doi: 10.1186/s13023-016-0397-z.

Abstract

Wolcott-Rallison Syndrome is the commonest cause of neonatal diabetes in consanguineous families. It is associated with liver dysfunction, epiphyseal dysplasia, and developmental delay. It is caused by mutations in eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3).We report 4 children with WRS and Os Odontoideum resulting in significant neurological compromise. This cervical spine abnormality has not previously been described in this syndrome. This additional evidence broadens the clinical spectrum of this syndrome and confirms the role of EIF2AK3 in skeletal development. Furthermore, Os Odontoideum needs to be actively screened for in WRS patients to prevent neurological and respiratory compromise.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Diabetes Mellitus, Type 1 / diagnosis*
  • Diabetes Mellitus, Type 1 / diagnostic imaging
  • Diabetes Mellitus, Type 1 / genetics
  • Epiphyses / abnormalities*
  • Epiphyses / diagnostic imaging
  • Exons / genetics
  • Female
  • Humans
  • Infant
  • Male
  • Mutation
  • Osteochondrodysplasias / diagnosis*
  • Osteochondrodysplasias / diagnostic imaging
  • Osteochondrodysplasias / genetics
  • Radiography
  • Young Adult
  • eIF-2 Kinase / genetics

Substances

  • EIF2AK3 protein, human
  • eIF-2 Kinase

Supplementary concepts

  • Wolcott-Rallison syndrome