Snyder-Robinson syndrome

Authors

  • Rachel Starks University of Iowa Hospitals and Clinics
  • Patricia Kirby University of Iowa Hospitals and Clinics
  • Michael Ciliberto University of Iowa Hospitals and Clinics
  • Marco Hefti University of Iowa Hospitals and Clinics

Keywords:

Spermine Synthase, Snyder-Robinson syndrome, Mental Retardation, X-linked, Intellectual Disability

Abstract

Snyder-Robinson syndrome, also known as spermine synthase deficiency, is an X-linked intellectual disability syndrome (OMIM #390583). First described by Drs. Snyder and Robinson in 1969, this syndrome is characterized by an asthenic body habitus, facial dysmorphism, broad-based gait, and osteoporosis with frequent fractures. We report here a pediatric autopsy of a 4 year old male with a history of intellectual disability, gait abnormalities, multiple fractures, and seizures previously diagnosed with Snyder-Robinson syndrome with an SMS gene mutation (c.831G>T:p.L277F). The cause of death was hypoxic-ischemic encephalopathy secondary to prolonged seizure activity. Although Snyder-Robinson syndrome is rare, the need to recognize clinical findings in order to trigger genetic testing has likely resulted in under diagnosis.

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Published

2018-11-12

How to Cite

Starks, R., Kirby, P., Ciliberto, M., & Hefti, M. (2018). Snyder-Robinson syndrome. Autopsy and Case Reports, 8(3), e2018031. Retrieved from https://www.revistas.usp.br/autopsy/article/view/151727

Issue

Section

Article / Autopsy Case Report