Journal article
Snyder-Robinson syndrome
Autopsy & case reports, Vol.8(3), p.e2018031
07/2018
DOI: 10.4322/acr.2018.031
PMID: 30237987
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.
Details
- Title: Subtitle
- Snyder-Robinson syndrome
- Creators
- Rachel Starks - University of Iowa Hospitals and ClinicsPatricia Kirby - University of Iowa Hospitals and ClinicsMichael Ciliberto - University of Iowa Hospitals and ClinicsMarco Hefti - University of Iowa Hospitals and Clinics
- Resource Type
- Journal article
- Publication Details
- Autopsy & case reports, Vol.8(3), p.e2018031
- DOI
- 10.4322/acr.2018.031
- PMID
- 30237987
- NLM abbreviation
- Autops Case Rep
- ISSN
- 2236-1960
- eISSN
- 2236-1960
- Publisher
- São Paulo, SP: Universidade de São Paulo, Hospital Universitário
- Language
- English
- Date published
- 07/2018
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Pathology; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9984046834202771
Metrics
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