Neural tube defects in Waardenburg syndrome: A case report and review of the literature

2017 ◽  
Vol 173 (9) ◽  
pp. 2472-2477 ◽  
Author(s):  
Joseph Hart ◽  
Kalpana Miriyala
Keyword(s):  
Case Report ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Waardenburg Syndrome ◽  
Review Of The Literature

Fetal Occipital Encephalocele: A Case Report

2021 ◽  
pp. 875647932110668
Author(s):  
Amanda Hogan ◽  
Natalie Ullmer
Keyword(s):  
Case Report ◽  
Patient Care ◽  
Treatment Planning ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Three Dimensional ◽  
Improve Patient Care ◽  
Two Dimensional ◽  
Occipital Encephalocele ◽  
Improve Patient

Encephaloceles are considered neural tube defects, but their exact cause is unknown. The outcome is dismal, and essential management and counseling are needed for patients. Two-dimensional and three-dimensional sonography can be used to detect encephaloceles as early as 11 weeks, assist in treatment planning, and improve patient care. This case report presents an occipital encephalocele diagnosed by sonography and followed until delivery.

Uterus-Like Mass in Association with Neural Tube Defect: A Case Report and Review of the Literature

2012 ◽  
Vol 48 (4) ◽  
pp. 240-244 ◽  
Author(s):  
Aanchal Kakkar ◽  
Mehar Chand Sharma ◽  
Ajay Garg ◽  
Nishant Goyal ◽  
Vaishali Suri ◽  
...  
Keyword(s):  
Case Report ◽  
Neural Tube ◽  
Neural Tube Defect ◽  
Review Of The Literature

Notomelia and related neural tube defects in a baby born in Niger: case report and literature review

2017 ◽  
Vol 33 (3) ◽  
pp. 529-534 ◽  
Author(s):  
AB Kelani ◽  
H Moumouni ◽  
AW Issa ◽  
H Younsaa ◽  
HMU Fokou ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Neural Tube ◽  
Neural Tube Defects

Exome analysis in an Estonian multiplex family with neural tube defects—a case report

2017 ◽  
Vol 33 (9) ◽  
pp. 1575-1581 ◽  
Author(s):  
Liina Pappa ◽  
Mart Kals ◽  
Paula Ann Kivistik ◽  
Andres Metspalu ◽  
Ann Paal ◽  
...  
Keyword(s):  
Case Report ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Multiplex Family ◽  
Exome Analysis

Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: A case report and review of the literature

2006 ◽  
Vol 10 (1) ◽  
pp. 11-17 ◽  
Author(s):  
Johanna B.G.M. Verheij ◽  
Deborah A. Sival ◽  
Johannes H. van der Hoeven ◽  
Yvonne J. Vos ◽  
Linda C. Meiners ◽  
...  
Keyword(s):  
Case Report ◽  
Waardenburg Syndrome ◽  
Review Of The Literature

scholarly journals Bilobed Thoracic Meningomyelocele: A Case Report with Literature Review

2019 ◽  
Vol 16 (1) ◽  
pp. 39-41
Author(s):  
Dipendra Shrestha ◽  
Binod Rajbhandari ◽  
Sushil Krishna Shilpakar
Keyword(s):  
Spinal Cord ◽  
Case Report ◽  
Literature Review ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Congenital Malformations ◽  
Rare Case ◽  
Brain And Spinal Cord ◽  
The Brain

Neural tube defects (NTDs) arethe most common congenital malformations affecting the brain and spinal cord. Furthermore, meningomyelocele (MMC) is said to be one of the commonest NTDs. Multiple MMC is uncommon and bilobed sac is even rarer, comparatively. In literature, only few such cases have been reported. Here, we present a rare case of bilobed thoracic MMC operated successfully in our department.

scholarly journals A case report of triple neural tube defect: revisiting the multisite closure theory

BMC Surgery ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Jayant Kumar Yadav ◽  
Ahtesham Khizar ◽  
Pradhumna Kumar Yadav ◽  
Ghulam Mustafa ◽  
Sajid Nazir Bhatti
Keyword(s):  
Case Report ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Neural Tube Defect ◽  
Neurological Outcome ◽  
Neural Tube Closure ◽  
Good Neurological Outcome ◽  
Case Presentation ◽  
Tube Closure ◽  
Closure Theory

Abstract Background Triple neural tube defects are rare. To the author’s knowledge, there are only four reported cases available in the literature up to date. Controversies exist with regards to the development of neural tube defects. We revisit the multisite closure theory and try to explain the mechanism of neural tube defects in our case. Case presentation We report a case of one-month-old baby boy who presented to us with three distinct neural tube defects. He had occipital and cervical encephaloceles along with thoracolumbar myelomeningocele accompanied by syrinx and mild hydrocephalus. All the three defects were surgically corrected with good neurological outcome. Conclusion In the multisite model of human neural tube closure, there are only two fusion sites and two neuropores unlike in mouse. This can explain the origin of open neural tube defects including anencephaly and myelomeningocele (as in our case) but cannot account for the development of encephalocele, which appears to be a post neurulation defect.

Sodium Valproate and the Fetus: A Case Study and Review of the Literature

2009 ◽  
Vol 28 (6) ◽  
pp. 363-367 ◽  
Author(s):  
Jacqueline Smith ◽  
John Whitehall
Keyword(s):  
Sodium Valproate ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Antenatal Screening ◽  
Women Of Childbearing Age ◽  
Review Of The Literature ◽  
Childbearing Age ◽  
Wide Range ◽  
Psychiatric Conditions

Sodium valproate is a teratogen responsible for a wide range of abnormalities, including neural tube defects. It has traditionally been prescribed for epilepsy, but is increasingly used for such psychiatric conditions as bipolar disease. Women of childbearing age taking valproate should be warned of its teratogenicity and advised to plan pregnancies, take a higher dose of folate, discuss reducing the dose of valproate or changing the medication with their physician, and have antenatal screening. After birth, the infant should be examined for a wide range of reported abnormalities. Neurodevelopmental assessment should continue throughout childhood. We present a case that illustrates the need for better education of mothers taking valproate and the medical staff prescribing it.

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