Congenital Brain and Spinal Cord Malformations and Their Associated Cutaneous Markers

Dias, Mark S.; Partington, Michael D.

doi:10.1542/peds.2015-2854

Cited by 58 publications

(65 citation statements)

References 76 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Presentation of OSD varies widely, from completely asymptomatic despite a cutaneous abnormality to paraplegia with cloacal exstrophy. A detailed description of symptomatology is beyond the scope of this article and descriptions of cutaneous stigmata, and neurologic, orthopedic, and urologic manifestations have been described previously …”

Section: Presenting Clinical Findings and Evaluation Methodsmentioning

confidence: 99%

“…Typical lumbosacral cutaneous abnormalities stratified by their risk of association with OSD on MRI, adapted from Dias et al…”

Section: Patterns Of Clinical Presentation Of Osdmentioning

confidence: 99%

“…Any lumbosacral cutaneous marker in a newborn should raise suspicion of an OSD; however, diagnostic specificity is unpredictable. Dias et al categorized cutaneous abnormalities according to their risk of OSD . Commonly encountered cutaneous markers are demonstrated in Figure , organized according to risk of an OSD on MRI (Figure ).…”

Section: Patterns Of Clinical Presentation Of Osdmentioning

confidence: 99%

“…The connection of lumbar hemangiomas and OSD is less clear. Large, raised reticulated, midline hemangiomas (telangectatic heamangiomas) require imaging, but miniscule lesions off the midline are normal variants that do not necessitate investigation . The LUMBAR syndrome (Lower body hemangioma, Urogenital abnormalities, Myelopathy, Bony defects, Anorectal malformations, and Renal anomalies) is the severest form .…”

Section: Patterns Of Clinical Presentation Of Osdmentioning

confidence: 99%

“…The process of dysjunction may occur prematurely or incompletely. With incomplete closure, premature separation permits formation of a lipoma on the surface of the neural placode from the exposed underlying mesoderm …”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

Evaluation and management of tethered cord syndrome in occult spinal dysraphism: Recommendations from the international children's continence society

Tuite

Thompson

Austin

et al. 2017

Neurourology and Urodynamics

View full text Add to dashboard Cite

Infants with classic cutaneous markers of OSD, with progressive neurologic, skeletal, and/or urologic findings, present no diagnostic or therapeutic dilemma: they routinely undergo MRI and SCU. Conversely, in asymptomatic patients or those with fixed, minor abnormalities, the risk profile of these OSD cohorts should be carefully considered before SCU is performed. Irrespective of whether or not SCU is performed, patients at risk for progression should be followed carefully throughout childhood and adolescence by a multidisciplinary team.

show abstract

Section: Presenting Clinical Findings and Evaluation Methodsmentioning

confidence: 99%

“…Typical lumbosacral cutaneous abnormalities stratified by their risk of association with OSD on MRI, adapted from Dias et al…”

Section: Patterns Of Clinical Presentation Of Osdmentioning

confidence: 99%

Section: Patterns Of Clinical Presentation Of Osdmentioning

confidence: 99%

Section: Patterns Of Clinical Presentation Of Osdmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Evaluation and management of tethered cord syndrome in occult spinal dysraphism: Recommendations from the international children's continence society

Tuite

Thompson

Austin

et al. 2017

Neurourology and Urodynamics

View full text Add to dashboard Cite

show abstract

Concepts in the neurosurgical care of patients with spinal neural tube defects: An embryologic approach

Blount

George

Koueik

et al. 2019

Birth Defects Research

View full text Add to dashboard Cite

Background: The neural tube defects (NTDs) are a heterogeneous group of structural birth defects that arise from a complex array of multiple genetic and environmental factors and adversely affect the structure and function of the brain and spinal cord. Spinal NTDs are clinically more common than cranial NTDs. There remains a significant gap in linking the multiple NTD phenotypes to current genomic understanding. Methods: This article summarizes the neurosurgical clinical approach to spinal NTDs by correlating each step of embryonic development of the human nervous system with key management concepts for defects that arise at that step. Results: The NTDs are broadly classified as open or closed. Open defects include myelomeningocele (MMC), encephalocele, and anencephaly. Closed defects are also known as occult spinal dysraphism and are characterized by intact skin over the spinal defect. They are more common and often cause neurologic decline from tethered cord syndrome. Failure of primary neurulation gives rise to open myelomeningocele (MMC). Surgical closure of an open MMC focuses on realigning the tissue layers that failed to separate during neurulation. In utero closure is a promising recent technique. Chronic neurosurgical management largely focuses treating hydrocephalus. The Chiari II malformation is uniformly present in MMC patients and may cause brainstem dysfunction. Tethered spinal cord may progressively impair normal neurologic function but typically responds well to surgical untethering. Conclusions: Surgical closure of MMC centers on approximated realignment of embryologically disordered neural tissue. Clinical surgical management decisions in the spinal NTDs remains challenging but standardized principles have emerged. K E Y W O R D S hydrocephalus, myelomeningocele, neurosurgery, spina bifida, spinal lipoma, tethered spinal cord

show abstract

Spinal cord regeneration: A brief overview of the present scenario and a sneak peek into the future

Srivastava

Singh

Kumar

2021

Biotechnology Journal

View full text Add to dashboard Cite

The central nervous system (CNS) portrays appreciable complexity in developing from a neural tube to controlling major functions of the body and orchestrated co‐ordination in maintaining its homeostasis. Any insult or pathology to such an organized tissue leads to a plethora of events ranging from local hypoxia, ischemia, oxidative stress to reactive gliosis and scarring. Despite unravelling the pathophysiology of spinal cord injury (SCI) and linked cellular and molecular mechanism, the over exhaustive inflammatory response at the site of injury, limited intrinsic regeneration capability of CNS, and the dual role of glial scar halts the expected accomplishment. The review discusses major current treatment approaches for traumatic SCI, addressing their limitation and scope for further development in the field under three main categories‐ neuroprotection, neuro‐regeneration, and neuroplasticity. We further propose that a multi‐disciplinary combinatorial treatment approach exploring any two or all three heads simultaneously might alleviate the inhibitory milieu and ameliorate functional recovery.

show abstract

Congenital Brain and Spinal Cord Malformations and Their Associated Cutaneous Markers

Cited by 58 publications

References 76 publications

Evaluation and management of tethered cord syndrome in occult spinal dysraphism: Recommendations from the international children's continence society

Evaluation and management of tethered cord syndrome in occult spinal dysraphism: Recommendations from the international children's continence society

Concepts in the neurosurgical care of patients with spinal neural tube defects: An embryologic approach

Spinal cord regeneration: A brief overview of the present scenario and a sneak peek into the future

Contact Info

Product

Resources

About