Occipital Encephalocele with Multiple Birth Defects: A Case Report

Pyakhurel, Bikash; Lamichhane, Anita; Bhandari, Bikash; Oli, Navachandra; Lamichhane, Somraj

doi:10.31729/jnma.6542

Cited by 3 publications

(1 citation statement)

References 12 publications

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“…It is not yet known whether GRHL2 dysregulation is involved in human NTDs or encephalocele, both of which may co-occur with CL/P, suggesting a possible shared genetic etiology. For example, midline CL/P may co-occur with encephalocele in rare conditions including Meckel syndrome, Sakoda Complex and Morning Glory Syndrome ( 52 , 69 , 70 ).…”

Section: Discussionmentioning

confidence: 99%

A non-coding insertional mutation ofGrhl2causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele

Crane-Smith

Castro

Nikolopoulou

et al. 2023

Human Molecular Genetics

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Orofacial clefts, including cleft lip and palate (CL/P), and neural tube defects (NTDs) are among the most common congenital anomalies but knowledge of the genetic basis of these conditions remains incomplete. The extent to which genetic risk factors are shared between CL/P, NTDs and related anomalies is also unclear. While identification of causative genes has largely focused on coding and loss of function mutations, it is hypothesised that regulatory mutations account for a portion of the unidentified heritability. We found that excess expression of Grainyhead-like 2 (Grhl2) not only causes spinal NTDs in Axial defects (Axd) mice, but also multiple additional defects affecting the cranial region. These include orofacial clefts comprising midline cleft lip and palate, abnormalities of the craniofacial bones and frontal and/or basal encephalocele, in which brain tissue herniates through the cranium or into the nasal cavity. To investigate the causative mutation in the Grhl2Axd strain, whole genome sequencing identified an approximately 4 kb LTR retrotransposon insertion which disrupts the non-coding regulatory region, lying approximately 300 base pairs upstream of the 5’ UTR. This insertion also lies within a predicted long non-coding RNA, oriented on the reverse strand, which like Grhl2 is over-expressed in Axd (Grhl2Axd) homozygous mutant embryos. Initial analysis of the GRHL2 upstream region in individuals with NTDs or cleft palate revealed rare or novel variants in a small number of cases. We hypothesise that mutations affecting the regulation of GRHL2 may contribute to craniofacial anomalies and NTDs in humans.

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Section: Discussionmentioning

confidence: 99%

A non-coding insertional mutation ofGrhl2causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele

Crane-Smith

Castro

Nikolopoulou

et al. 2023

Human Molecular Genetics

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Defecto del tubo neural: encefalocele occipital. Reporte de caso

Santiago-Sanabria,

Morales-Martínez,

Alonso-León

et al. 2024

Rev Fac Med

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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 involve different anatomical sites such as the occipital, frontal, temporal, and parietal regions. The fourth and fifth weeks of embryological development are essential 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 appear, where encephaloceles can originate. Genetically it can be explained by the dysembryological theory, which involves certain mutated genes that interfere with important celular 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, where 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. Among the most important sequelae is the intellectual deficit. Keywords: Encephalocele; prenatal diagnosis; congenital malformations; neural tube; prognosis

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Pre-Natal Diagnosis of Occipital Encephalocele: A Rare Case

Mhamdi¹,

Boujida²,

Hassani³

et al. 2022

OJOG

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Background: Encephalocele is defined as the externalization of brain tissue and/or meninges out of the skull through a congenital bone defect. It's a rare congenital malformation with a high risk of mortality and morbidity. Unfortunately, Prenatal diagnostic is still rare. Aims: The aim is to describe the main characteristic of this malformation and the optimal management to improve the prognosis. Case Presentation: we report the case of 32-year-old women diagnosed at 34 weeks gestation with a live fetus with occipital encephalocele. Conclusion: Through this case and the review of the literature we will highlight the diagnostic sources in order to improve the diagnosis and the management.

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Occipital Encephalocele with Multiple Birth Defects: A Case Report

Cited by 3 publications

References 12 publications

A non-coding insertional mutation ofGrhl2causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele

A non-coding insertional mutation ofGrhl2causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele

Defecto del tubo neural: encefalocele occipital. Reporte de caso

Pre-Natal Diagnosis of Occipital Encephalocele: A Rare Case

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