title: Diabetic Ketoacidosis in an Adult Patient With Spinal Muscular Atrophy Type II: Further Evidence of Extraneural Pathology Due to Survival Motor Neuron 1 Mutation?
abstract: 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.
authors.affiliation: 1Columbia University Medical Center, New York, NY.
authors.forename: Nicole Holuba
authors.initials: NH
authors.lastname: Lamarca
authors.forename: Lauren
authors.initials: L
authors.lastname: Golden
authors.forename: Rita Marie
authors.initials: RM
authors.lastname: John
authors.forename: Ali
authors.initials: A
authors.lastname: Naini
authors.forename: Darryl C De
authors.initials: DC
authors.lastname: Vivo
authors.forename: Douglas M
authors.initials: DM
authors.lastname: Sproule