Resumen

SANTIAGO-SANABRIA, Leopoldo et al. Neural Tube Defect: Occipital Encephalocele. A case Report. Rev. Fac. Med. (Méx.) [online]. 2024, vol.67, n.5, pp.29-36.  Epub 22-Nov-2024. ISSN 2448-4865.  https://doi.org/10.22201/fm.24484865e.2024.67.5.03.

Encephalocele is a rare congenital malformation of the central nervous system. The prevalence is estimated to be about 1 in 5,000-40,000 live births. It can affect various anatomical locations such as the occipital, frontal, temporal, and parietal regions.

The fourth and fifth weeks of embryonic development are critical for the development of the head and neck. When there is a failure in the separation of the superficial ectoderm from the neuroectoderm, neural tube defects occur, from which encephaloceles may arise. Genetically it can be explained by the dysembryological theory, which involves certain mutated genes that interfere with important cellular mechanisms in early neuronal development.

Currently, thanks to prenatal screening tools such as ultrasound, it is possible to identify them from intrauterine life. It is extremely important to make an early diagnosis to establish protocols and provide individualized treatment, involving a multidisciplinary team will be involved.

Even though some cases are usually compatible with life, the expected prognosis of the anatomical site involved as well as timely surgical management. One of the most important sequelae is intellectual deficit.

Palabras llave : Encephalocele; prenatal diagnosis; congenital malformations; neural tube; prognosis.

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