Pathologies Neural tube closure defects

These are a group of congenital anomalies characterized by a defect in the midline structures, which may include a lack of closure of neural tissue, meninges, muscle, bone, and skin. The primary embryological abnormality is due to a defect in the proper closure of the neural tube, which normally occurs between the third and fourth week of fetal gestation.
Therefore, a correct antenatal diagnosis and genetic counseling are essential.
They can be spinal, mostly affecting the lumbosacral region, or cranial, depending on the affected area.

Spinal dysraphisms (lack of closure) are divided into two groups: open spina bifida (a defect in the skin, in addition to bone, muscle, dural, and nervous tissue) and spina bifida occulta (the defect is covered by healthy skin). They are generally diagnosed through fetal ultrasounds, and a fetal MRI may be necessary. At birth, diagnostic studies are completed to determine the involvement and the best treatment. Spinal dysraphisms are a cause of disability and must be managed by a specialized multidisciplinary team (clinician/pediatrician, urologist, orthopedist, psychologist, specialized neurosurgeon, among others).

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Among open spina bifida, myelomeningocele (MMC) is the most common presentation. It is characterized by a lack of fusion of the distal portion of the neural tube, with the subsequent extrusion and exposure of the neural plate and peripheral nerves through a sac of cerebrospinal fluid (CSF).

The infant will require surgical treatment to close the defect within the first 36 hours of life. Patients may present with varying degrees of lower limb weakness and bladder and bowel dysfunction, despite early surgical repair. In most cases, it is associated with Chiari type II malformation and hydrocephalus, among other malformations.

Spina bifida occulta is a group of heterogeneous conditions of varying severity, with healthy skin covering the defect. It can be diagnosed early, as a result of a skin stigmata in the spinal area (e.g., pit, angioma/red spot, hair, lipoma, lump, or appendix). Or, as the child grows, it may present with symptoms of tethered spinal cord: progressive limb weakness, spasticity, gait instability, sensory deficit, pain in the dorsal region or lower limbs, scoliosis, lower limb muscle atrophy, foot deformities, and/or urological disorders (e.g., urinary/fecal incontinence, difficulty toilet training, recurrent urinary tract infections).

Within this group are mentioned: Lipomyelomeningocele, Medullary lipoma, Lipomatosum terminale filum, Diastematomyelia, diplomyelia, Spinal dermal sinus, among other less frequent ones.

Our team specializes in these complex conditions, working in an integrative manner, alongside other leading specialists, to improve the quality of life for children. We provide care in health centers equipped with the latest technological resources for diagnosis and treatment.