Giant encephalocele in a child (clinical case)

Authors

DOI:

https://doi.org/10.15574/SP.2024.6(142).127133

Keywords:

encephalocele, meningoencephalocele, folic acid

Abstract

One of the embryonic neural tube congenital defect variants, which occurs in the early stages of pregnancy as a result of its improper closure and is the reason for the disability or death of the newborn, is the protrusion (herniation) of the intracranial contents due to the defect of the dura mater and the skull, known as encephalocele.

Aim - to increase the awareness of doctors about meningoencephalocele in newborns, the causes and the emergence of opportunities for pre-gravid training as a prevention of this pathology based on the analysis of a clinical case observed from birth and during the next few months of life.

A clinical case of a congenital malformation of the central nervous system is described: meningoencephalocele of giant sizes in combination with multiple stigmata of dysembryogenesis. Research in recent years suggests that neural tube defects are the result of an interaction between environmental and genetic factors that affect the determination of genotypes and the susceptibility of embryos to teratogens. 20% are caused by genetic factors, the rest are non-genetic. Since one of the main pathogenetic factors of this pathology is the balanced and folic acid-sublimated nutrition of the pregnant woman, which is primarily determined by the financial capacity of the family and the state, our case is exactly this: a family with a low financial status, the woman has frequent pregnancies with minimal intervals between them, lack of pre-gravid training.

The study was carried out in compliance with the principles of the Declaration of Helsinki. Written consent of the patient's mother was obtained for the study and publication of its results.

The authors declare no conflict of interest.

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Published

2024-10-28