Article

Homocystinuria (HCU) is a rare autosomal recessive disease characterized by the
deficiency of cystathionine beta-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.

Langue : ANGLAIS