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- Title
Spondylodiscitis in familial dysautonomia: a case report.
- Authors
GHERMANDI, R.; MESFIN, A.; TERZI, S.; COLANGELI, S.; ZAMPARINI, E.; GASBARRINI, A.
- Abstract
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.
- Subjects
DYSAUTONOMIA; SENSORY neurons; SPINAL cord abnormalities; PROTEIN kinase B; POINT mutation (Biology)
- Publication
European Review for Medical & Pharmacological Sciences, 2014, Vol 18, p60
- ISSN
1128-3602
- Publication type
Case Study