Congenital Malformations of the Central Nervous System

Huang, Sarah Bauer; Doherty, Dan

doi:10.1016/b978-0-323-40139-5.00059-0

Cited by 6 publications

(4 citation statements)

References 209 publications

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“…Children with encephaloceles have an increased mortality rate, with many survivors having neurologic and developmental deficits. [3][4][5] Common disabilities from spina bifida include lower limb weakness and paralysis, sensory loss, bowel and bladder dysfunction, orthopedic abnormalities (eg, clubfoot, contractures, hip dislocation, scoliosis, or kyphosis), and ventriculomegaly (which may require placement of ventricular-peritoneal shunts). [6][7][8] Anencephaly is life-limiting in early infancy.…”

Section: Importancementioning

confidence: 99%

Folic Acid Supplementation to Prevent Neural Tube Defects

Barry

Nicholson

Silverstein

et al. 2023

JAMA

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ImportanceNeural tube defects are among the most common congenital malformations in the US, with an estimated 3000 pregnancies affected each year. Many of these neural tube defects are caused by low folate levels in the body.ObjectiveThe US Preventive Services Task Force (USPSTF) commissioned a reaffirmation evidence update on the benefits and harms of folic acid supplementation.PopulationPersons who are planning to or could become pregnant.Evidence AssessmentThe USPSTF concludes that, for persons who are planning to or could become pregnant, there is high certainty that folic acid supplementation has a substantial net benefit to prevent neural tube defects in their offspring.RecommendationThe USPSTF recommends that all persons planning to or who could become pregnant take a daily supplement containing 0.4 to 0.8 mg (400 to 800 μg) of folic acid. (A recommendation)

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Section: Importancementioning

confidence: 99%

Folic Acid Supplementation to Prevent Neural Tube Defects

Barry

Nicholson

Silverstein

et al. 2023

JAMA

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“…ACC is among the most common brain malformations observed in humans [ 20 ]. The prevalence of ACC ranges from 0.5 in 10,000 in the general population to 600 in 10,000 in children with neurodevelopmental disability [ 21 ]. The most frequent causes of ACC are gene mutations that are related to pathways of axon guidance, ciliary development, and cell adhesion, proliferation, differentiation and migration [ 22 ].…”

Section: Introductionmentioning

confidence: 99%

“…The most frequent causes of ACC are gene mutations that are related to pathways of axon guidance, ciliary development, and cell adhesion, proliferation, differentiation and migration [ 22 ]. ACC is a feature of hundreds of different disorders, and all modes of inheritance have been observed [ 21 ]. Rarely, it may occur as an isolated malformation in the absence of other major abnormalities [ 13 ].…”

Section: Introductionmentioning

confidence: 99%

The Impact of the IKBKG Gene on the Appearance of the Corpus Callosum Abnormalities in Incontinentia Pigmenti

et al. 2023

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Incontinentia pigmenti (IP) is a rare skin disease combined with anomalies of the teeth, eyes, and central nervous system (CNS). Mutations of the IKBKG gene are responsible for IP. Among the most frequent CNS abnormalities found in IP using magnetic resonance imaging (MRI) are corpus callosum (CC) abnormalities. The aim of the study was to determine the presence of CC abnormalities, their relationship with the IKBKG mutations, and the possible presence of mutations of other genes. A group of seven IP patients was examined. Analyses of the IKBKG gene and the X-chromosome inactivation pattern were performed, as well as MRI and whole exome sequencing (WES) with the focus on the genes relevant for neurodegeneration. WES analysis showed IKBKG mutation in all examined patients. A patient who had a mutation of a gene other than IKBKG was excluded from further study. Four of the seven patients had clinically diagnosed CNS anomalies; two out of four had MRI-diagnosed CC anomalies. The simultaneous presence of IKBKG mutation and CC abnormalities and the absence of other mutations indicate that IKBKG may be the cause of CC abnormalities and should be included in the list of genes responsible for CC abnormalities.

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“…Thus, neurologic deficits are generally not expected (6). However, the spinal cord may still be tethered, eventually causing symptoms (7). Meningocele cases that affect the cervical region are less frequent, accounting for 1-5% of all NTDs (8).…”

Section: Introductionmentioning

confidence: 99%

Cervical Meningocele in a Newborn: A Case Report

Şenödeyici¹,

Akıncı²,

Aktürk³

2020

tmsj

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Aims: Neural tube defects are among the most common congenital anomalies worldwide, with a wide range of subtypes. The aim of this case report is to present a patient with cervical meningocele, a rare type of neural tube defect. Case Report: A 33-year-old pregnant woman with a story of bearing an anencephalic baby was referred to Trakya University Hospital with a probable cystic hygroma diagnosis on the 31st week of pregnancy. An antenatal ultrasound revealed a protrusion on the posterior cervical region. Two days before the planned delivery, fetal magnetic resonance imaging was performed by the decision of the council. The 61 x 37 millimeters cyst was planned to be removed upon birth. On the 38th week, the baby was delivered by cesarean section with no other complications. After a preoperative magnetic resonance imaging, surgical procedure including the excision of the cyst and the duroplasty was performed. Conclusion: A rare and devastating congenital anomaly, cervical meningocele, requires accurate diagnosis and prompt surgical involvement for effective treatment and good prognosis.

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Congenital Malformations of the Central Nervous System

Cited by 6 publications

References 209 publications

Folic Acid Supplementation to Prevent Neural Tube Defects

Folic Acid Supplementation to Prevent Neural Tube Defects

The Impact of the IKBKG Gene on the Appearance of the Corpus Callosum Abnormalities in Incontinentia Pigmenti

Cervical Meningocele in a Newborn: A Case Report

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