Cervical Myelomeningocele: A Rare Neural Tube Defect: A Case Report

Abstract

This case presents a 3-month-old infant with a progressively enlarging Cervical swelling (C2-C3). Magnetic Resonance Imaging revealed a 17×4 mm cystic lesion, consistent with a diagnosis of Cervical Myelomeningocele (cMMC), a rare Neural Tube Defect (NTD) that accounts for only 1-5% of all NTDs. cMMC is characterized by herniation of the spinal cord and meninges through a vertebral defect, often leading to neurological deficits and potential complications such as hydrocephalus and spinal deformities. Genetic predisposition and maternal folic acid deficiency are significant risk factors, with inadequate folic acid intake during early pregnancy being a well-established cause of NTDs. Surgical repair was performed with meticulous dural sac closure and cerebrospinal fluid drainage. The infant demonstrated stable postoperative recovery without immediate complications. This case highlights the importance of maternal folic acid supplementation in preventing NTDs and underscores the need for early diagnosis and surgical intervention to improve outcomes in patients with cMMC.

Keywords: Cervical Myelomeningocele; Folic Acid Deficiency; Neural Tube Defect; Paediatric Neurosurgery; Spinal Dysraphism