Development and Treatment of Severe Lordoscoliosis in a Patient With Noonan Syndrome With Multiple Lentigines (NSML): A Case Report

Noonan syndrome with multiple lentigines (NSML) is an allelic variant of Noonan syndrome (NS), which can exhibit multisystemic features, including sensorineural hearing loss (SNHL) and skeletal anomalies. We report on a patient with this rare condition who developed an uncommon syndromic feature of severe lordoscoliosis requiring surgical intervention, whose comorbidities complicated the perioperative course, including the preclusion of magnetic resonance imaging (MRI) and relative contraindication to transcranial motor evoked potentials (TcMEPs). We discuss the use of preoperative computed tomography (CT) and somatosensory evoked potentials (SSEPs) in facilitating the consent process for surgery where MRI and TcMEPs are impracticable, as well as the intraoperative measures taken to minimise complications in this case. We also highlight the importance of multispecialty, multidisciplinary involvement in the management of such patients. In this patient whose severe lordoscoliosis led to persistent back pain and airway compression, posterior spinal fusion achieved satisfactory deformity correction and excellent clinical outcome, which was maintained at follow-up.