Spine surgery and complication in familial dysautonomia: a case report

Familial dysautonomia (FD) is an inherited severe congenital disease and a rare syndrome associated with progressive neuronal degeneration throughout life. Among its orthopedic conditions, FD patients have an higher incidence of kyphoscoliosis and osteomyelitis. Due to the rarity of FD and the presence of multiple comorbidities, there are currently no established guidelines for the management of vertebral pathologies associated with FD. Hence, this highlights the importance of sharing the case of our patient. The purpose of our study is to report the case of a 45-year-old patient with FD who underwent multiple spinal surgeries at our clinic, to provide possible indications for the most effective management of this rare condition.

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Publication Details

Journal
Frontiers in Surgery
Published
2025-06-18
DOI
https://doi.org/10.3389/fsurg.2025.1559346
Primary Topic
Hereditary Neurological Disorders
Type
article
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article

Spine surgery and complication in familial dysautonomia: a case report

Bruna Maccaferri, Chiara Cini, Riccardo Ghermandi, Gioia Ciani et al.
Frontiers in Surgery
Hereditary Neurological Disorders
article

Spine surgery and complication in familial dysautonomia: a case report

Bruna Maccaferri, Chiara Cini, Riccardo Ghermandi, Gioia Ciani, Alessandro Gasbarrini, Mario Fava
article en

Abstract

Familial dysautonomia (FD) is an inherited severe congenital disease and a rare syndrome associated with progressive neuronal degeneration throughout life. Among its orthopedic conditions, FD patients have an higher incidence of kyphoscoliosis and osteomyelitis. Due to the rarity of FD and the presence of multiple comorbidities, there are currently no established guidelines for the management of vertebral pathologies associated with FD. Hence, this highlights the importance of sharing the case of our patient. The purpose of our study is to report the case of a 45-year-old patient with FD who underwent multiple spinal surgeries at our clinic, to provide possible indications for the most effective management of this rare condition.

Frontiers in SurgeryVol. 12
Orthopedic Institute (US)
Good health and well-being
Openalex Percentile: Top 85%
Hereditary Neurological Disorders
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