Skip to content
DraconiticResearch
Search Sources API
197,761 studies31 sourcesUpdated 15 min ago
Peer-reviewedCC BY-NC-ND 4.0AACE Endocrinology and Diabetes

Snyder-Robinson Syndrome Presenting With Severe Osteoporosis and Fragility Fracture: A Case Report and Literature Review

  • Ana Cristina Macías1
  • Marilyn Arosemena1,2
  1. 1Universidad Espíritu Santo, Samborondón, Ecuador
  2. 2Texas Diabetes Institute-University Health, University of Texas Health San Antonio, San Antonio, Texas
Read full textDOICite

Abstract

Background/Objective: Snyder-Robinson syndrome (SRS) is an extremely rare X-linked genetic disorder caused by mutations in the spermine synthase (SMS) gene. SMS gene encodes SMS enzyme which is essential for producing spermine, a polyamine that plays a crucial role in various cellular functions like growth and repair. Patients often present with intellectual disability, hypotonia, seizures, scoliosis, and progressive bone fragility.

Case report: We report the case of a 22-year-old male who presented with multiple fragility fractures and osteogenesis imperfecta-like features that was ultimately confirmed to have SRS.

Discussion: Despite long-term bisphosphonate therapy, the patient developed more fragility fractures and transitioned to anabolic therapy with abaloparatide with stable laboratory parameters and no new interval fractures.

Conclusion: This case highlights the endocrine-related manifestations of the syndrome, therapeutic challenges, and the importance of multidisciplinary management in rare metabolic bone disorders.

Related

  1. Netherton syndrome presenting with generalized erythroderma in a preterm neonate: Diagnostic and therapeutic challenges.
    Zahra Khodabakhshian, Naser Tayyebi Meibodi, Ahmad Reza Taheri
    JAAD case reportsPeer-reviewedCC BYFull textCell biologyEurope PMC
  2. De novo POLR2A p.(L1127F) variant presenting with neurodevelopmental regression and dystonia, with favorable response to low-dose dopamine therapy: a case report and literature review
    Zhuci Cao, Qinru Shen, Chenchen Tangzhu +5
    Frontiers in NeurosciencePeer-reviewedCC BY 4.0Full textGenetics & genomicsFrontiersCrossref
  3. An Autopsy Case of Beare-Stevenson Cutis Gyrata Syndrome Presenting with an Extremely Short Small Intestine
    Ryo Uraki, Masaki Yamamoto, Noriko Miura +7
    Internal MedicinePeer-reviewedCC BY-NC-NDFull textGenetics & genomicsJ-STAGE
  4. Case Report: Interleukin-17A blockade for SAPHO syndrome presenting as an FDG-avid destructive osteolytic acetabular lesion
    Shu Liu, Anning Wang, Yiming Yuan +5
    Frontiers in ImmunologyPeer-reviewedCC BY 4.0Full textImmunologyGeneral medicineCrossrefDOAJ
  5. Complement Factor H Mutation-Associated Atypical Haemolytic Uraemic Syndrome Presenting With Dialysis-Dependent Renal Failure: A Case Report.
    Anil Jain, Deyab Mohamed, Gauri Satheesh Nair +3
    CureusPeer-reviewedCC BYFull textImmunologyEurope PMCPMC

Cite

BibTeXRIS
BibTeX
@article{macias2026snyderrobinson,
  title = {{Snyder-Robinson Syndrome Presenting With Severe Osteoporosis and Fragility Fracture: A Case Report and Literature Review}},
  author = {Ana Cristina Macías and Marilyn Arosemena},
  journal = {AACE Endocrinology and Diabetes},
  year = {2026},
  month = jul,
  doi = {10.1016/j.aed.2026.07.012},
  url = {https://doi.org/10.1016/j.aed.2026.07.012},
  note = {CC BY-NC-ND 4.0},
}
RIS
TY  - JOUR
TI  - Snyder-Robinson Syndrome Presenting With Severe Osteoporosis and Fragility Fracture: A Case Report and Literature Review
AU  - Ana Cristina Macías
AU  - Marilyn Arosemena
PY  - 2026
DA  - 2026/07/31
JO  - AACE Endocrinology and Diabetes
DO  - 10.1016/j.aed.2026.07.012
UR  - https://doi.org/10.1016/j.aed.2026.07.012
AB  - Background/Objective: Snyder-Robinson syndrome (SRS) is an extremely rare X-linked genetic disorder caused by mutations in the spermine synthase (SMS) gene. SMS gene encodes SMS enzyme which is essential for producing spermine, a polyamine that plays a crucial role in various cellular functions like growth and repair. Patients often present with intellectual disability, hypotonia, seizures, scoliosis, and progressive bone fragility.  Case report: We report the case of a 22-year-old male who presented with multiple fragility fractures and osteogenesis imperfecta-like features that was ultimately confirmed to have SRS.  Discussion: Despite long-term bisphosphonate therapy, the patient developed more fragility fractures and transitioned to anabolic therapy with abaloparatide with stable laboratory parameters and no new interval fractures.  Conclusion: This case highlights the endocrine-related manifestations of the syndrome, therapeutic challenges, and the importance of multidisciplinary management in rare metabolic bone disorders.
SN  - 3050-9157
ER  -