Nonspinal Orthopaedic Problems in Familial Dysautonomia (Riley–Day Syndrome)

Laplaza, F. Javier; Turajane, Thana; Axelrod, Felicia B.; Burke, Stephen W.

doi:10.1097/01241398-200103000-00019

Cited by 15 publications

(7 citation statements)

References 18 publications

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“…Patients with FD present with poor development and degeneration of the autonomic nervous system, associated with impaired motor and sensory function. Skeletal manifestations contribute to the reduced quality of life of these patients and include spinal deformities (111) and high incidence of multiple fractures (171,190), which is exacerbated by their insensitivity to bone pain and recurrent falls. The cause of these multiple fractures is likely a consequence of reduced bone density, which can be secondary to multiple factors, including reduced physical activity, low BMI, reduced caloric intake, consumption of antacids, delayed puberty, and perhaps uncontrolled blood pressure and bone perfusion.…”

Section: Dysautonomiasmentioning

confidence: 99%

Impact of the Autonomic Nervous System on the Skeleton

Elefteriou

2018

Physiological Reviews

160

170

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It is from the discovery of leptin and the central nervous system as a regulator of bone remodeling that the presence of autonomic nerves within the skeleton transitioned from a mere histological observation to the mechanism whereby neurons of the central nervous system communicate with cells of the bone microenvironment and regulate bone homeostasis. This shift in paradigm sparked new preclinical and clinical investigations aimed at defining the contribution of sympathetic, parasympathetic, and sensory nerves to the process of bone development, bone mass accrual, bone remodeling, and cancer metastasis. The aim of this article is to review the data that led to the current understanding of the interactions between the autonomic and skeletal systems and to present a critical appraisal of the literature, bringing forth a schema that can put into physiological and clinical context the main genetic and pharmacological observations pointing to the existence of an autonomic control of skeletal homeostasis. The different types of nerves found in the skeleton, their functional interactions with bone cells, their impact on bone development, bone mass accrual and remodeling, and the possible clinical or pathophysiological relevance of these findings are discussed.

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Section: Dysautonomiasmentioning

confidence: 99%

Impact of the Autonomic Nervous System on the Skeleton

Elefteriou

2018

Physiological Reviews

160

170

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“…5,6 Orthopaedic problems: Spinal deformity is a common orthopaedic problem which begins at approximately four years of age, with a prevalence of 86 percent (forty-eight of fifty-six) by the age of fifteen years. 7,8 Correspondence: Professor Adrian Bösenberg email: bosie@cormack.uct.ac.za Synopsis of the patient: A six year old boy presented for cosmetic surgery to his nose, which had been fractured some months previously. The trauma had resulted in some deviation of the nasal septum and ugly scarring on the bridge of his nose.…”

Section: Clinical Featuresmentioning

confidence: 98%

“…[7][8][9] Despite the apparent insensitivity to pain it is essential to provide adequate anaesthesia to reduce the surgical stress and the "dysautonomic" events. These patients are known to have an increased sensitivity to endogenous or exogenous catecholamines.…”

Section: Anaesthetic Considerationsmentioning

confidence: 99%

Anaesthesia and familial dysautonomia with congenital insensitivity to pain

Bosenberg

2005

Southern African Journal of Anaesthesia and Analgesia

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“…52 Patients usually present with numbness, paraesthesias, pain and neuropathic ulcers, although some of the classification groups such as Riley-Day syndrome are more widespread. 53 The ulcers are typically slow to heal and often become infected (fig 6). Many patients require debridement, skin grafting and amputations to improve healing, preserve the joint and enable foot stability.…”

Section: Hereditary Neuropathymentioning

confidence: 99%

Neurology and orthopaedics

Houlden

Charlton²,

Singh³

2006

Journal of Neurology, Neurosurgery & Psychiatry

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Neurology encompasses all aspects of medicine and surgery, but is closer to orthopaedic surgery than many other specialities. Both neurological deficits and bone disorders lead to locomotor system abnormalities, joint complications and limb problems. The main neurological conditions that require the attention of an orthopaedic surgeon are disorders that affect the lower motor neurones. The most common disorders in this group include neuromuscular disorders and traumatic peripheral nerve lesions. Upper motor neurone disorders such as cerebral palsy and stroke are also frequently seen and discussed, as are chronic conditions such as poliomyelitis. The management of these neurological problems is often coordinated in the neurology clinic, and this group, probably more than any other, requires a multidisciplinary team approach.

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Nonspinal Orthopaedic Problems in Familial Dysautonomia (Riley–Day Syndrome)

Cited by 15 publications

References 18 publications

Impact of the Autonomic Nervous System on the Skeleton

Impact of the Autonomic Nervous System on the Skeleton

Anaesthesia and familial dysautonomia with congenital insensitivity to pain

Neurology and orthopaedics

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