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Peer-reviewedCC BYClinical case reports

Atypical Presentation of Hereditary Sensory and Autonomic Neuropathy Type IIB: A Family of HSAN IIB With Spasticity Presentation and Review on Sensory Neuropathies With Spasticity

  • Farzad Ahmadabadi1,2
  • Marzieh Babaee3
  • Narjes Jafari1,2
  • Mohadeseh Fathi4,5
  • Diba Akbarzadeh4
  • Amin Jazayeri1,2
5 affiliations
  1. 1Pediatric Neurology Research Center Shahid Beheshti University of Medical Sciences Tehran Iran.
  2. 2Pediatric Neurology Department, Mofid Children's Hospital, School of Medicine Shahid Beheshti University of Medical Sciences Tehran Iran.
  3. 3Physical Medicine and Rehabilitation Research Center Shahid Beheshti University of Medical Sciences Tehran Iran.
  4. 4Student Research Committee, School of Medicine Shahid Beheshti University of Medical Sciences Tehran Iran.
  5. 5Department of Medical Genetics Shahid Beheshti University of Medical Sciences Tehran Iran.
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Abstract

A 10-year-old boy from a consanguineous family presented with progressive lower-limb spasticity and a family history of painless, non-healing trophic ulcers of the lower limbs. Genetic testing identified a homozygous FAM134B mutation, confirming HSAN IIB and expanding its clinical spectrum with early pyramidal involvement.

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Cite

BibTeXRIS
BibTeX
@article{ahmadabadi2026atypical,
  title = {{Atypical Presentation of Hereditary Sensory and Autonomic Neuropathy Type IIB: A Family of HSAN IIB With Spasticity Presentation and Review on Sensory Neuropathies With Spasticity}},
  author = {Farzad Ahmadabadi and Marzieh Babaee and Narjes Jafari and Mohadeseh Fathi and Diba Akbarzadeh and Amin Jazayeri},
  journal = {Clinical case reports},
  year = {2026},
  month = oct,
  doi = {10.1002/ccr3.73764},
  url = {https://europepmc.org/article/PMC/PMC13717945},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Atypical Presentation of Hereditary Sensory and Autonomic Neuropathy Type IIB: A Family of HSAN IIB With Spasticity Presentation and Review on Sensory Neuropathies With Spasticity
AU  - Farzad Ahmadabadi
AU  - Marzieh Babaee
AU  - Narjes Jafari
AU  - Mohadeseh Fathi
AU  - Diba Akbarzadeh
AU  - Amin Jazayeri
PY  - 2026
DA  - 2026/10/29
JO  - Clinical case reports
DO  - 10.1002/ccr3.73764
UR  - https://europepmc.org/article/PMC/PMC13717945
AB  - A 10-year-old boy from a consanguineous family presented with progressive lower-limb spasticity and a family history of painless, non-healing trophic ulcers of the lower limbs. Genetic testing identified a homozygous FAM134B mutation, confirming HSAN IIB and expanding its clinical spectrum with early pyramidal involvement.
SN  - 2050-0904
ER  -