Outline
DOI: 10.1002/ccr3.73764 ISSN: 2050-0904
Atypical Presentation of Hereditary Sensory and Autonomic Neuropathy Type
IIB
: A Family of
HSAN IIB
With Spasticity Presentation and Review on Sens
Farzad Ahmadabadi, Marzieh Babaee, Narjes Jafari, Mohadeseh Fathi, Diba Akbarzadeh, Amin Jazayeri 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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