Spinal cord injury following a mild trauma in homocystinuria-related bone frailty: neurorehabilitation and education on bone health management

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 associa...

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Bibliographic Details
Published in:	International journal of rehabilitation research Vol. 40; no. 4; pp. 374 - 376
Main Authors:	Varghese, Ginny, Al Yazeedi, Wafa, Al Hamawi, Mohammed, Awad, Mohammed N., Ferriero, Giorgio, Giovanazzi, Elena
Format:	Journal Article
Language:	English
Published:	England Copyright Wolters Kluwer Health, Inc. All rights reserved 01-12-2017 Lippincott Williams & Wilkins Ovid Technologies
Subjects:	Adult Fractures Fractures, Compression - etiology Fractures, Compression - rehabilitation Frailty Health education Homocystinuria - complications Humans Injuries Interdisciplinary Approach Male Osteoporosis Osteoporosis - etiology Osteoporotic Fractures - etiology Paraplegia - etiology Paraplegia - rehabilitation Patient Compliance Patient Education as Topic Rehabilitation Rehabilitation Programs Spinal cord injuries Spinal Cord Injuries - etiology Spinal Cord Injuries - rehabilitation Spinal Fractures - etiology Spinal Fractures - rehabilitation
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Summary:	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.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0342-5282 1473-5660
DOI:	10.1097/MRR.0000000000000246