The Embryogenesis of Complex Dysraphic Malformations: A Disorder of Gastrulation?

Dias, Mark S.; Walker, Marion L.

doi:10.1159/000120670

Cited by 151 publications

(99 citation statements)

References 51 publications

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“…Multipotent cells contained within the Hensen node and laid down between the two hemicords may form various normal and abnormal tissue types (such as ovarian and renal tissues, Wilm tumor, or teratoma) and result in a wide variety of malformations such as neurenteric cysts, combined spina bifida (split notochord syndrome), and other entities. 17 Experimental manipulations of the Hensen node in chick embryos can produce malformations that resemble human SCMs and provide some experimental support for such a mechanism. …”

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confidence: 98%

“…50 Although these all suggest a number of potential mechanisms whereby NTDs might arise, the cause of human malformations remains unknown. Neural tube defects are most likely heterogeneous in origin 8,10,11,17 and represent the end result of a various embryonic disorders.What is clear, however, is that NTDs represent the intricate interactions between complex genetic and environmental factors. Many lines of evidence point to a genetic component for NTDs.…”

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confidence: 99%

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Embryology of myelomeningocele and anencephaly

Dias

Partington

2004

FOC

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The authors review current views on of the embryogenesis of the neural tube defects (NTDs) myelomeningocele and anencephaly. In this context, the following four approaches to the study of NTDs are discussed: normal morphogenesis and timing of early human neural development from conception to the ascent of the conus medullaris; mechanical and molecular biology of neural tube closure derived from experimental and animal models; morphological and biomechanical features of the NTDs myelomeningocele and anencephaly; and the experimental evidence for the importance of both genetic and environmental influences on human NTDs. Although considerable insight into both normal neural tube closure and the factor(s) by which this process may be disrupted has been reported in recent years, the exact mechanism(s) by which human myelomeningoceles and anencephaly arise remain elusive.

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confidence: 98%

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Embryology of myelomeningocele and anencephaly

Dias

Partington

2004

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“…13,14 Spinal cord injury studies also demonstrate an inflammatory reaction leading to macrophage invasion and development of scar formation. 15 Benzel coined the term 'glacial instability' which is spinal instability that is not overt and that does not pose a significant risk for the rapid development or progression of deformities but progresses gradually as in the motion of a glacier. 16 Could this case represent glacial instability?…”

Section: Discussionmentioning

confidence: 99%

Intramedullary inflammatory mass dorsal to the Klippel–Feil deformity: error in development or response to an abnormal motion segment?

2004

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Study design: Case study on a 45-year-old female with progressive weakness and paresthesias in her lower extremities and a magnetic resonance image of an intramedullary mass at the level of C5-6 and a Klippel-Feil (KF) deformity ventral to the lesion. Objective: Present an interesting case of an intramedullary mass coexisting with a ventral KF deformity with review of the medical literature on intramedullary masses and cervical spine biomechanics. Setting: New York city, New York, USA. Methods: Case study with discussion of neurosurgical and neuropathological findings and review of the literature. Results:The patient underwent open neurosurgical excisional biopsy of the intramedullary mass which revealed a non-neoplastic inflammatory mass that slowly resolved with medical management. Conclusions: While no definitive etiology was found in this case we offer two interesting mechanisms: (1) maldevelopment of the cervical spine or (2) this inflammatory mass is in response to an abnormal motion at the level of the Klippel-Feil.

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“…In our literature review, we found 11 more reports since then. 6 explained their cause as a problem at the gastrulation stage of development, with primary disruption of tissues derived from surface ectoderm. This primary gastrulation dysembryogenesis, leads to a secondary disruption of neural tube closure, during the 3rd to 5th week of gestation.…”

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“…Epidermoid cyst is frequently associated with developmental abnormalities such as spina bifida, dermal sinus, meningomyelocele, diastematomyelia and enterogenous cysts or one or more of the mesodermal malformations, particularly those involving the vertebrae (e.g., hemivertebrae, absent vertebrae, fused vertebrae, butterfly vertebrae, midline bony spurs). 6,11,18 Acquired epidermoid cysts have been found years after single or multiple lumbar spinal punctures or meningomyelocele repairs and are thought to result from iatrogenic penetration of skin fragments. 12 The epidermoid cyst is lined by simple stratified squamous epithelium resting on an outer layer of connective tissue.…”

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Thoracic Spinal Intradural Intramedullary Epidermoid Cyst: Case Report

Elsebaey

Elgohary

2017

Egyptian Spine Journal

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Background Data: Epidermoid cysts grow slowly so the symptoms would present with slowly progressive course and delay in the diagnosis that may extend up to years. 4 Presence of neurological symptoms and signs is usually detected that might be associated with local mild but persistent back pain. Purpose: To describe a case presentation of spinal epidermoid cyst. Study design: A case report of intradural thoracic an epidermoid cyst. Patients and Methods: Our case was a forty years old male patient presenting with left lower limb motor weakness. He had a 5 month history of slowly progressive left lower limb weakness and not associated with sphincter disturbance. Magnetic resonance imaging of the spine demonstrated an intradural lesion of the thoracic part of the spinal cord. Results: The lesion was excised totally and 14 days after the surgical removal, the motor power of the left lower limb showed marked improvement up to grade 4 on MRC scale. Conclusion: The diagnosis of intradural epidermoid cyst could be considered in patients with slowly progressive lower limbs weakness and mild persistent back pain. (2016ESJ121)

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The Embryogenesis of Complex Dysraphic Malformations: A Disorder of Gastrulation?

Cited by 151 publications

References 51 publications

Embryology of myelomeningocele and anencephaly

Embryology of myelomeningocele and anencephaly

Intramedullary inflammatory mass dorsal to the Klippel–Feil deformity: error in development or response to an abnormal motion segment?

Thoracic Spinal Intradural Intramedullary Epidermoid Cyst: Case Report

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