Myelocystocele

Myelocystocele is a rare form of closed (skin-covered) spinal dysraphism, classified as a type of neural tube defect. It is characterized by a cystic dilation of the central canal of the spinal cord that herniates through a posterior spina bifida defect, forming a fluid-filled sac covered by skin. Myelocystocele most commonly occurs in the lumbosacral or terminal region of the spine and is sometimes referred to as terminal myelocystocele. The condition is typically detected at birth as a visible skin-covered mass over the lower back. Unlike open neural tube defects such as myelomeningocele, the neural tissue in myelocystocele remains covered by skin, which may reduce the risk of infection but does not eliminate neurological complications. The condition primarily affects the nervous system, the musculoskeletal system, and the urogenital system. Key clinical features include lower limb weakness or motor deficits, neurogenic bladder dysfunction, bowel dysfunction, and tethered spinal cord. Myelocystocele is frequently associated with other congenital anomalies, particularly those involving the genitourinary tract, anorectal malformations, and sacral bony abnormalities. It may occur as part of a broader spectrum of caudal anomalies. Some cases are associated with cloacal exstrophy or the OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects). Diagnosis is typically made through prenatal ultrasound or postnatal MRI imaging, which reveals the characteristic cystic expansion of the terminal spinal cord. Treatment is primarily surgical, involving neurosurgical repair to untether the spinal cord, drain the cyst, and reconstruct the dural and soft tissue layers. Early surgical intervention is generally recommended to prevent progressive neurological deterioration. Long-term management often requires a multidisciplinary approach including urology, orthopedics, and rehabilitation to address bladder dysfunction, mobility issues, and other associated anomalies. Prognosis varies depending on the severity of the defect and associated malformations, but many patients retain some degree of neurological function given the closed nature of the lesion.

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