Fetal Ventriculomegaly: A Review of Literature

Alluhaybi, Abdulelah A; Altuhaini, Khalid; Ahmad, Maqsood

doi:10.7759/cureus.22352

Cited by 6 publications

(4 citation statements)

References 37 publications

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“…However, ventriculomegaly refers to the abnormal expansion of the ventricular dimensions, often occurring without a noticeable increase in ICP 40 . It is frequently associated with brain atrophy or shrinkage, where enlargement of the ventricles can be a result of loss of brain tissue, leading to a compensatory increase in CSF volume.…”

Section: Discussionmentioning

confidence: 99%

“…Treatments for hydrocephalus include invasive neurosurgeries that create a new drainage route for the fluid, but these dramatic procedures can result in postsurgical complications 39 . Ventriculomegaly is another neurological disease characterized by ventricular enlargement with excessive CSF accumulation 40 . Multiple reasons, including brain shrinkage, anatomic obstruction, CSF overproduction or infection, may contribute to the initiation and progression of the disease.…”

Section: Mainmentioning

confidence: 99%

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Piezo1 regulates meningeal lymphatic vessel drainage and alleviates excessive CSF accumulation

Choi,

Park,

Choi

et al. 2024

Nat Neurosci

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Piezo1 regulates multiple aspects of the vascular system by converting mechanical signals generated by fluid flow into biological processes. Here, we find that Piezo1 is necessary for the proper development and function of meningeal lymphatic vessels and that activating Piezo1 through transgenic overexpression or treatment with the chemical agonist Yoda1 is sufficient to increase cerebrospinal fluid (CSF) outflow by improving lymphatic absorption and transport. The abnormal accumulation of CSF, which often leads to hydrocephalus and ventriculomegaly, currently lacks effective treatments. We discovered that meningeal lymphatics in mouse models of Down syndrome were incompletely developed and abnormally formed. Selective overexpression of Piezo1 in lymphatics or systemic administration of Yoda1 in mice with hydrocephalus or Down syndrome resulted in a notable decrease in pathological CSF accumulation, ventricular enlargement and other associated disease symptoms. Together, our study highlights the importance of Piezo1-mediated lymphatic mechanotransduction in maintaining brain fluid drainage and identifies Piezo1 as a promising therapeutic target for treating excessive CSF accumulation and ventricular enlargement.

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Section: Discussionmentioning

confidence: 99%

Section: Mainmentioning

confidence: 99%

Piezo1 regulates meningeal lymphatic vessel drainage and alleviates excessive CSF accumulation

Choi,

Park,

Choi

et al. 2024

Nat Neurosci

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“…Further consumption of teratogens such as alcohol and tobacco, TORCH infections, especially in the first trimester of pregnancy, and lack of nutrition in pregnancy are known risk factors for congenital heart disease in children [ 2 ]. Similarly, fetal ventriculomegaly, defined as ventricular enlargement, is diagnosed in utero and is known as one of the most common fetal anomalies with etiologies similar to encephalocele and cardiac abnormality causes, including genetic, environmental, and TORCH infection exposure [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

A Female Newborn With Occipital Encephalocele and a Hypoplastic Right Ventricle Secondary to Tricuspid and Pulmonary Atresia: A Case Report

Sobczak,

Skelly,

Patel

et al. 2024

Cureus

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Encephaloceles and severe cardiac malformations are rare presentations in a newborn. The mechanism of these congenital abnormalities is relatively unknown, but it is hypothesized to be related to genetic, environmental, and maternal risk factors. This case report describes a newborn with an occipital encephalocele associated with severe right ventricular hypoplasia secondary to tricuspid and pulmonary atresia. The patient’s maternal risk factors included obesity, type 2 diabetes mellitus, and everyday tobacco use during pregnancy. Education on preconception planning, management, and counseling is essential as a preventative measure in fetal development and is further emphasized in this case.

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“…Fetus with severe ventriculomegaly is known to have a poor prognosis in accordance with survival and neurodevelopment outcome. However, the prognosis for infants with mild-to-moderate ventriculomegaly is widely variable, which makes genetic counseling challenging in clinical practice ( 12 ). Terminal 12p deletion, instead, represents one of the rarest subtelomeric imbalances ( 13 ).…”

Section: Introductionmentioning

confidence: 99%

De novo 3q13.13q21.2 interstitial deletion and paternal 12p13.3 microdeletion in a fetus with dysplasia of the corpus callosum and ventriculomegaly: A case report

Libotte¹,

Fabiani²,

Margiotti³

et al. 2023

Exp Ther Med

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Chromosome 3q syndrome is a well-known genetic condition caused by interstitial deletion in the long arm of chromosome 3. The phenotype of this syndrome is variable and the great variability in the extent of these deletions leads to a wide spectrum of clinical manifestations. Terminal 12p deletion represents one of the rarest subtelomeric imbalances; patients with distal monosomy 12p present different phenotypes ranging from muscular hypotonia to autism spectrum disorders. The present study reported a prenatal diagnosis of a male fetus presenting ultrasound evidence of corpus callosum dysplasia and ventriculomegaly showing a 3q13q21.2 deletion and a 12p13.33 microdeletion paternally inherited. Among several features previously attributed to the terminal deletion of 3q, corpus callosum dysplasia and ventriculomegaly have rarely been reported together. As the 12p13.33 microdeletion in the father was associated only with muscular hypotonia and joint laxity, the involvement of terminal 12p deletions in the clinical features of the fetus was not possible to verify during the prenatal period. The present case report may provide a reference for prenatal diagnosis and genetic counseling in patients who present 3q13q21.2 deletions and 12p13.33 microdeletion.

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Fetal Ventriculomegaly: A Review of Literature

Cited by 6 publications

References 37 publications

Piezo1 regulates meningeal lymphatic vessel drainage and alleviates excessive CSF accumulation

Piezo1 regulates meningeal lymphatic vessel drainage and alleviates excessive CSF accumulation

A Female Newborn With Occipital Encephalocele and a Hypoplastic Right Ventricle Secondary to Tricuspid and Pulmonary Atresia: A Case Report

De novo 3q13.13q21.2 interstitial deletion and paternal 12p13.3 microdeletion in a fetus with dysplasia of the corpus callosum and ventriculomegaly: A case report

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