Spinal cord injury following a mild trauma in homocystinuria-related bone frailty

neurorehabilitation and education on bone health management

Ginny Varghese, Wafa Al Yazeedi, Mohammed Al Hamawi, Mohammed N Awad, Giorgio Ferriero, Elena Giovanazzi

Research output: Contribution to journalArticle

Abstract

Homocystinuria (HCU) is a rare autosomal recessive disease characterized by the deficiency of cystathionine β-synthetase, presenting with variable clinical features including micronutrient deficiency-related osteoporosis. Early-onset osteoporosis results in increased bone fragility, which is associated with low-impact fractures. To date, no traumatic myelopathy has ever been described in patients with HCU. This case report describes a 30-year-old male patient with HCU who was not aware that he was at high risk of sustaining debilitating bone fractures. After a mild trauma, he reported a T12 compression fracture with spinal cord injury. The patient underwent a tailored rehabilitation program, on the basis of multidisciplinary approach, and was educated about the increased risk of fractures, maintaining adherence to treatment and diet, having an active lifestyle, avoiding excessive weight loss, and preventing falls or other traumatic injury. To reduce the risk of fractures - with possible catastrophic consequences - patients with HCU, and their caregivers, should be educated about prevention of fractures.

Original languageEnglish
Pages (from-to)374-376
Number of pages3
JournalInternational Journal of Rehabilitation Research
Volume40
Issue number4
DOIs
Publication statusPublished - Dec 2017

Fingerprint

Homocystinuria
Spinal Cord Injuries
Education
Bone and Bones
Health
Wounds and Injuries
Osteoporosis
Cystathionine beta-Synthase
Deficiency Diseases
Compression Fractures
Micronutrients
Bone Fractures
Caregivers
Life Style
Weight Loss
Rehabilitation
Diet
Neurological Rehabilitation

Keywords

  • Journal Article

Cite this

Spinal cord injury following a mild trauma in homocystinuria-related bone frailty : neurorehabilitation and education on bone health management. / Varghese, Ginny; Al Yazeedi, Wafa; Al Hamawi, Mohammed; Awad, Mohammed N; Ferriero, Giorgio; Giovanazzi, Elena.

In: International Journal of Rehabilitation Research, Vol. 40, No. 4, 12.2017, p. 374-376.

Research output: Contribution to journalArticle

Varghese, Ginny ; Al Yazeedi, Wafa ; Al Hamawi, Mohammed ; Awad, Mohammed N ; Ferriero, Giorgio ; Giovanazzi, Elena. / Spinal cord injury following a mild trauma in homocystinuria-related bone frailty : neurorehabilitation and education on bone health management. In: International Journal of Rehabilitation Research. 2017 ; Vol. 40, No. 4. pp. 374-376.
@article{e97e643ddefa4b88842ccd17479800d7,
title = "Spinal cord injury following a mild trauma in homocystinuria-related bone frailty: neurorehabilitation and education on bone health management",
abstract = "Homocystinuria (HCU) is a rare autosomal recessive disease characterized by the deficiency of cystathionine β-synthetase, presenting with variable clinical features including micronutrient deficiency-related osteoporosis. Early-onset osteoporosis results in increased bone fragility, which is associated with low-impact fractures. To date, no traumatic myelopathy has ever been described in patients with HCU. This case report describes a 30-year-old male patient with HCU who was not aware that he was at high risk of sustaining debilitating bone fractures. After a mild trauma, he reported a T12 compression fracture with spinal cord injury. The patient underwent a tailored rehabilitation program, on the basis of multidisciplinary approach, and was educated about the increased risk of fractures, maintaining adherence to treatment and diet, having an active lifestyle, avoiding excessive weight loss, and preventing falls or other traumatic injury. To reduce the risk of fractures - with possible catastrophic consequences - patients with HCU, and their caregivers, should be educated about prevention of fractures.",
keywords = "Journal Article",
author = "Ginny Varghese and {Al Yazeedi}, Wafa and {Al Hamawi}, Mohammed and Awad, {Mohammed N} and Giorgio Ferriero and Elena Giovanazzi",
year = "2017",
month = "12",
doi = "10.1097/MRR.0000000000000246",
language = "English",
volume = "40",
pages = "374--376",
journal = "International Journal of Rehabilitation Research",
issn = "0342-5282",
publisher = "Lippincott Williams and Wilkins",
number = "4",

}

TY - JOUR

T1 - Spinal cord injury following a mild trauma in homocystinuria-related bone frailty

T2 - neurorehabilitation and education on bone health management

AU - Varghese, Ginny

AU - Al Yazeedi, Wafa

AU - Al Hamawi, Mohammed

AU - Awad, Mohammed N

AU - Ferriero, Giorgio

AU - Giovanazzi, Elena

PY - 2017/12

Y1 - 2017/12

N2 - Homocystinuria (HCU) is a rare autosomal recessive disease characterized by the deficiency of cystathionine β-synthetase, presenting with variable clinical features including micronutrient deficiency-related osteoporosis. Early-onset osteoporosis results in increased bone fragility, which is associated with low-impact fractures. To date, no traumatic myelopathy has ever been described in patients with HCU. This case report describes a 30-year-old male patient with HCU who was not aware that he was at high risk of sustaining debilitating bone fractures. After a mild trauma, he reported a T12 compression fracture with spinal cord injury. The patient underwent a tailored rehabilitation program, on the basis of multidisciplinary approach, and was educated about the increased risk of fractures, maintaining adherence to treatment and diet, having an active lifestyle, avoiding excessive weight loss, and preventing falls or other traumatic injury. To reduce the risk of fractures - with possible catastrophic consequences - patients with HCU, and their caregivers, should be educated about prevention of fractures.

AB - Homocystinuria (HCU) is a rare autosomal recessive disease characterized by the deficiency of cystathionine β-synthetase, presenting with variable clinical features including micronutrient deficiency-related osteoporosis. Early-onset osteoporosis results in increased bone fragility, which is associated with low-impact fractures. To date, no traumatic myelopathy has ever been described in patients with HCU. This case report describes a 30-year-old male patient with HCU who was not aware that he was at high risk of sustaining debilitating bone fractures. After a mild trauma, he reported a T12 compression fracture with spinal cord injury. The patient underwent a tailored rehabilitation program, on the basis of multidisciplinary approach, and was educated about the increased risk of fractures, maintaining adherence to treatment and diet, having an active lifestyle, avoiding excessive weight loss, and preventing falls or other traumatic injury. To reduce the risk of fractures - with possible catastrophic consequences - patients with HCU, and their caregivers, should be educated about prevention of fractures.

KW - Journal Article

U2 - 10.1097/MRR.0000000000000246

DO - 10.1097/MRR.0000000000000246

M3 - Article

VL - 40

SP - 374

EP - 376

JO - International Journal of Rehabilitation Research

JF - International Journal of Rehabilitation Research

SN - 0342-5282

IS - 4

ER -