Genetic counseling for a family with two distinct anomalies: A case report of a neural tube defect and 5p- syndrome in a fetus

1994 ◽  
Vol 3 (2) ◽  
pp. 87-93 ◽  
Author(s):  
Michael L. Begleiter ◽  
Jill Cellars Rogers
Keyword(s):  
Genetic Counseling ◽  
Case Report ◽  
Neural Tube ◽  
Neural Tube Defect

Junctional neural tube defect: a supporting case report

2018 ◽  
Vol 34 (8) ◽  
pp. 1447-1448 ◽  
Author(s):  
Malik Ali ◽  
P. Daniel McNeely
Keyword(s):  
Case Report ◽  
Neural Tube ◽  
Neural Tube Defect

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

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.

scholarly journals Jarcho-Levin Syndrome – A Case Report

2016 ◽  
Vol 33 (4) ◽  
pp. 222-224 ◽  
Author(s):  
Begum Sharifun Naher ◽  
Adity Sarkar
Keyword(s):  
Case Report ◽  
Neural Tube ◽  
Neural Tube Defect ◽  
Skeletal Dysplasia ◽  
Rare Association

Jarcho- Levin Syndrome is an eponym that represents a spectrum of short trunk skeletal dysplasia with variable involvement of the vertebrae and ribs. Initialy considered to be lethal, it is now accepted as compatible with life in its milder presentations. Neural tube defect is a rare association in Jarcho-Levin Syndrome. Here we report a case of Jarcho- Levin Syndrome with meningomyelocele in a newborn.J Bangladesh Coll Phys Surg 2015; 33(4): 222-224

scholarly journals Neural Tube Defects: A case report

2018 ◽  
Vol 14 (4) ◽  
pp. 228-230
Author(s):  
Bishnu Gautam
Keyword(s):  
Folic Acid ◽  
Case Report ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Neural Tube Defect ◽  
Prenatal Counseling ◽  
Folic Acid Supplement ◽  
Folic Acid Supplements ◽  
Period Of Gestation

Neural tube defect is rare congenital defect of fetus. I have a case of 13 weeks period of gestation with meningomeyelocele came for termination of pregnancy. The diagnosis was confirmed by ultrasonography. History suggests that patient had previous neural tube defect baby, non-compliance to folic acid supplements. It is concluded that prenatal counseling, adherence to folic acid supplement and regular follow-up can prevent further complication.

scholarly journals Atypical Presentation of Frontoethmoidal Encephaloceles in a Child - A Case Report

2021 ◽  
Vol 10 (32) ◽  
pp. 2689-2691
Author(s):  
Aditi Jhamb ◽  
Divya Ramamoorthy ◽  
Syed Athhar Saqqaf ◽  
Amar Taksande
Keyword(s):  
Case Report ◽  
Neural Tube ◽  
Neural Tube Defect ◽  
Facial Asymmetry ◽  
Cranial Vault ◽  
Atypical Presentation ◽  
Skull Defect ◽  
Facial Deformity ◽  
Bony Structure

Encephalocele is a form of neural tube defect affecting many children, more common in the occipital regions. The frontoethmoidal encephaloceles (FEE) are rare and the aetiology is unclear since it varies genetically and is linked to multiple reasons. The child with FEE mainly presents with swelling over the bridge of the nose or inner canthus of an eye since birth, with varying degrees of hypertelorism. Here we report a child who has facial asymmetry with FEE. Encephalocele is a defect in the calvarium that causes the cranial contents to protrude outside the natural limits of the skull. It can have meninges (meningocele), brain matter and meninges (meningoencephalocele), or communication with the ventricles. Suwanwela and Suwanwela defined encephaloceles based on the location and form of skull defect as occipital encephaloceles, cranial vault encephaloceles, frontoethmoidal encephaloceles, and basal encephaloceles. The internal skull defect in frontoethmoidal encephalocele (FEE) is in the midline, but the external skull defect may vary in the facial bony structure. 1–3 It is also classified into three subtypes: nasofrontal (NF), naso-ethmoidal (NE), and naso-orbital (NO). These swellings are classified as sessile or pedunculated, and their palpability ranges from robust and rigid to soft and cystic. We present a case of an infant with frontoethmoidal encephaloceles as well as a facial deformity.

scholarly journals Antenatally diagnosed posterior Meningoencephalocele: a case report

2017 ◽  
Vol 6 (10) ◽  
pp. 4697
Author(s):  
Sabrina A. Mhapankar ◽  
Annabelle S. Vadukkut ◽  
Utkarsha S. Patil ◽  
Sushil Kumar
Keyword(s):  
Folic Acid ◽  
Case Report ◽  
Neural Tube ◽  
Neural Tube Defect ◽  
Surgical Outcome ◽  
Associated Anomalies ◽  
Fetal Head ◽  
Traumatic Birth ◽  
The Brain

Congenital encephalocele is a neural tube defect which is caused by an embryonic development abnormality. It is characterized by a sac-like protrusion of the brain, meninges and other intracranial structures through the skull. 75% of encephalocoeles are occipital. Pre-natal screening is very essential for timely recognition of the condition. At the same time, proper intake of folic acid in the first few weeks of pregnancy may reduce the occurrence of this form of NTD. The prognosis is variable depending on the presence of associated anomalies and presence of microcephaly (carries a much poorer prognosis). A favorable surgical outcome generally follows an accurate strategy taking into account individual features of the lesion. A Caesarian delivery may be considered to allow for less traumatic birth for the fetal head. Here we present a case of a foetus with posterior meningoencephalocoele diagnosed antenatally at 32 weeks of pregnancy. Patient was delivered by elective Cesearian section. The encephalocoele was resected and the defect was closed primarily. The baby was well on the regular follow-up at the neurosurgery outpatient department.

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