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.
- Journal Article