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

• Published in: Medicine (Baltimore) Vol. 102; no. 12; p. e33414
• Main Authors: Yoshikawa, Yoshiro, Yamakawa, Chikashi, Shimabukuro, Takanao, Kinjo, Hideo, Fukase, Shogo, Oshiro, Hiromichi, Katsuki, Ryo, Tome, Yasunori, Nishida, Kotaro
• Format: Journal Article
• Language: English
• Published: United States Lippincott Williams & Wilkins 24-03-2023
• Subjects: Abnormalities, Multiple; Child; Clinical Case Report; Female; Humans; Microphthalmos - complications; Microphthalmos - surgery; Scoliosis - complications; Scoliosis - surgery; Spinal Fusion - adverse effects; Syndrome; Treatment Outcome
• ISSN: 0025-7974; 1536-5964
• DOI: 10.1097/MD.0000000000033414

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.
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.
She was diagnosed with microphthalmia with limb anomalies and progressive scoliosis.
A posterior corrective fusion surgery (including a pelvic fusion) was performed to prevent future standing/sitting imbalance.
Significant improvement of spinal deformity was observed, with no adverse events.
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.