This site is intended for healthcare professionals
Journals
  • Home
  • /
  • Journals
  • /
  • Other hereditary or degenerative neurological diso...
  • /
  • Diabetic Ketoacidosis in an Adult Patient With Spi...
Journal

Diabetic Ketoacidosis in an Adult Patient With Spinal Muscular Atrophy Type II: Further Evidence of Extraneural Pathology Due to Survival Motor Neuron 1 Mutation?

Read time: 1 mins
Published:1st Nov 2013
Author: Lamarca NH, Golden L, John RM, Naini A, Vivo DC, Sproule DM.
Availability: Pay for access, or by subscription
Ref.:J Child Neurol. 2013;28(11):1517-1520.
DOI:10.1177/0883073812460096
Spinal muscular atrophy is an autosomal recessive neurodegenerative disease caused by homozygous mutation to the survival motor neuron 1 (SMN1) gene. Historically, spinal muscular atrophy has been considered to almost exclusively affect the function and survival of alpha motor neurons of the spinal cord and brainstem. With the development of animal models of spinal muscular atrophy, the presence of widespread systemic abnormalities affecting the brain, heart, and pancreas has been repeatedly noted among animals with diminished survival motor neuron protein expression. While these observations suggest similar possible effects in humans, reports of primary systemic disease manifestations among humans affected by spinal muscular atrophy are strikingly lacking. Here we report a case of a 29-year-old man with genetically confirmed spinal muscular atrophy type II who presented with new onset diabetes mellitus and diabetic ketoacidosis.

Read abstract on library site

Access full article