Case Report: First report of spinal stenosis in Imagawa-Matsumoto syndrome: a novel

Objective: To expand the phenotypic and genotypic spectrum of Imagawa-Matsumoto syndrome (IMMAS) by investigating the genetic etiology and unique clinical manifestations of an overgrowth case associated with a Methods: We report a case of IMMAS in an 11-year-old Chinese girl who was admitted to our hospital due to unsteady gait and an abnormal walking pattern for 1.5 years. Trio-based whole-exome sequencing (trio-WES) was performed to identify the genetic etiology. Additionally, we conducted a systematic literature review of previously reported cases of overgrowth syndromes associated with Results: The patient presented with generalized overgrowth, characteristic facial features, and skeletal abnormalities consistent with IMMAS. Cervical spine magnetic resonance imaging (MRI) revealed cervical canal stenosis accompanied by signs of cervical spinal cord compression and cord edema. The patient underwent posterior cervical single-door decompression, canal expansion with internal fixation, and adhesiolysis of the spinal cord and nerve roots. Trio-WES identified a Conclusion: Our findings expand the phenotypic and genotypic spectrum of IMMAS. For patients with overgrowth syndromes, spinal stenosis should be considered during clinical evaluation.