Holistic Approach in the Management of Skeletal Deformity in a Case of Homocystinuria.

Introduction: Homocystinuria has a wide range of clinical presentations ranging from near normal intelligence and appearance with just lens dislocation and minimal skeletal deformities to severe mental retardation with gross skeletal deformities. In this background, we describe one such case with skeletal deformity managed comprehensively.

Case Report: A 17-year-old boy presented with complaints of deformity of the left lower limb since childhood more evident for the past 5 years along with a history of blurring of vision. On examination the pubis-heal length > crown-pubis length along with genu valgum of left lower-limb with 16 cm intermalleolar distance. He also had a superolateral subluxation of the lens in both eyes. Valgus angle was 16° on the left leg compared to 6° on the right. The diagnosis of homocystinuria was confirmed by biochemical investigations. The left side genu valgum was addressed with medial closing wedge osteotomy and fixed with distal femur locking compression plating. Lens subluxation was treated with posterior chamber intra-ocular lens surgery. He was also given medical treatment and on regular monitoring of his homocysteine levels. The patient had good functional outcome at 2-year follow-up.

Conclusion: Homocystinuria is a rare disease that needs early identification and effective management to avoid complications. Skeletal complications are common and include genu valgum, pes cavus, chest wall deformities, and skeletal deformities such as kyphosis and scoliosis. Skeletal deformities can be avoided when identified early and associated osteoporosis which is managed effectively. A holistic approach is needed in the management of such patients with inter-departmental coordination to bring quality to the life of patients with homocystinuria.