Spondylodiscitis in familial dysautonomia: a case report

R. Ghermandi, A. Mesfin, S. Terzi, S. Colangeli, E. Zamparini, A. Gasbarrini

Research output: Contribution to journalArticlepeer-review


Familial dysautomonia (FD, or Riley-Day syndrome) is a rare but fatal autosomal recessive peripheral neuropathy caused by a point mutation in I-κ-B kinase complex associated protein (IKBCAP) gene. The disease, that affects primarily people of Ashkenazi Jewish origin, prejudices the development of primary sensory neurons determining depletion of autonomic and sensory neurons. Musculoskeletal problems include: spinal deformities, foot deformities, fractures and arthopathies. In this article we review a case of a 34 years old male of non-Jewish origin affected by FD presenting L2-L3 kyphosis and inability to walk due to chronic L2-L3 spondylodiscitis not surgically treated 14 years before as acute disease. De novo spondylodiscitis affecting patients presenting FD and its subsequent management was not previously described in the literature.

Original languageEnglish
Pages (from-to)60-65
Number of pages6
JournalEuropean Review for Medical and Pharmacological Sciences
Issue number1
Publication statusPublished - 2014

ASJC Scopus subject areas

  • Medicine(all)


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