Progressive scoliosis associated with microphthalmia with limb anomalies: A case report

Rationale: Microphthalmia with limb anomalies is a rare, autosomal recessive, multiple congenital anomaly syndrome. Patients with this syndrome particularly present with monocular or bilateral anophthalmia/microphthalmia and distal limb anomalies. However, details regarding associated spinal deformities have not been fully elucidated.

Patient concerns: A 12-year-old girl initially presented with progressive scoliosis, who was previously diagnosed with microphthalmia with limb anomalies. However, 4 years after the initial visit, the scoliosis deformity gradually progressed. The patient and family requested the surgical treatment to preserve standing/sitting balance.

Diagnoses: She was diagnosed with microphthalmia with limb anomalies and progressive scoliosis.

Interventions: A posterior corrective fusion surgery (including a pelvic fusion) was performed to prevent future standing/sitting imbalance.

Outcomes: Significant improvement of spinal deformity was observed, with no adverse events.

Lessons: This report demonstrated a case of progressive scoliosis associated with microphthalmia with limb anomalies. A posterior corrective spinal fusion was effective to preserve standing/sitting balance. To the best of our knowledge, this is the first report of surgical treatment of progressive scoliosis associated with microphthalmia with limb anomalies.