PRENATAL DIAGNOSIS OF SPLIT SPINAL CORD MALFORMATION TYPE 1– TWO DIFFERENT CASES, ONE SAME OUTCOME

Intracranial endoscopy in the treatment of hydrocephalus, arachnoid cysts, or brain tumors has gained wide acceptance, but the use of endoscopy for intradural navigation in the pediatric spine has received much less attention. The aim of the authors' present study was to analyze their experience in using spinal endoscopy to treat various pathologies of the spinal canal. The authors performed a retrospective review of intradural spinal endoscopic cases at their institution. They describe 4 representative cases, including an arachnoid cyst, intrinsic spinal cord tumor, holocord syrinx, and split cord malformation. Intradural spinal endoscopy was useful in treating the aforementioned lesions. It resulted in a more limited laminectomy and myelotomy, and it assisted in identifying a residual spinal cord tumor. It was also useful in the fenestration of a multilevel arachnoid cyst and in confirming communication of fluid spaces in the setting of a complex holocord syrinx. Endoscopy aided in the visualization of the spinal cord to ensure the absence of tethering in the case of a long-length Type II split spinal cord malformation. Conclusions Based on their experience, the authors found intradural endoscopy to be a useful surgical adjunct and one that helped to decrease morbidity through reduced laminectomy and myelotomy. With advances in technology, the authors believe that intradural endoscopy will begin to be used by more neurosurgeons for treating diseases of this anatomical region.

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Molecular Genetic Testing for Carrier - Prenatal Diagnosis and Computational Analysis of Oculocutaneous Albinism Type 1

Journal of Genetic Disorders & Genetic Reports ◽

10.4172/2327-5790.1000117 ◽

2014 ◽

Vol 03 (02) ◽

Author(s):

Kathirvel Renugadevi John Asnet Mary

Keyword(s):

Prenatal Diagnosis ◽

Genetic Testing ◽

Computational Analysis ◽

Molecular Genetic ◽

Oculocutaneous Albinism ◽

Molecular Genetic Testing

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Prenatal diagnosis of Desbuquois dysplasia Type 1: Utilization of high‐density SNP array to map homozygosity and identify the gene

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.61372 ◽

2019 ◽

Vol 179 (12) ◽

pp. 2490-2493 ◽

Cited By ~ 2

Author(s):

Katherine R. Forster ◽

Jody E. Hooper ◽

Karin J. Blakemore ◽

Ahmet A. Baschat ◽

Julie Hoover‐Fong

Keyword(s):

Prenatal Diagnosis ◽

Snp Array ◽

High Density ◽

Desbuquois Dysplasia

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Spinal cord stimulation for complex regional pain syndrome type 1 with dystonia: a case report and discussion of the literature

F1000Research ◽

10.12688/f1000research.3771.1 ◽

2014 ◽

Vol 3 ◽

pp. 97 ◽

Cited By ~ 1

Author(s):

Caroline Voet ◽

Bernard le Polain de Waroux ◽

Patrice Forget ◽

Ronald Deumens ◽

Etienne Masquelier

Keyword(s):

Spinal Cord ◽

Nervous System ◽

Case Report ◽

Complex Regional Pain Syndrome ◽

Spinal Cord Stimulation ◽

Behavioural Change ◽

Pain Syndrome ◽

Social Model ◽

Syndrome Type

Background: Complex Regional Pain Syndrome type 1 (CRPS-1) is a debilitating chronic pain disorder, the physiopathology of which can lead to dystonia associated with changes in the autonomic, central and peripheral nervous system. An interdisciplinary approach (pharmacological, interventional and psychological therapies in conjunction with a rehabilitation pathway) is central to progress towards pain reduction and restoration of function.Aim: This case report aims to stimulate reflection and development of mechanism-based therapeutic strategies concerning CRPS associated with dystonia.Case description: A 31 year old female CRPS-1 patient presented with dystonia of the right foot following ligamentoplasty for chronic ankle instability. She did not have a satisfactory response to the usual therapies. Multiple anesthetic blocks (popliteal, epidural and intrathecal) were not associated with significant anesthesia and analgesia. Mobilization of the foot by a physiotherapist was not possible. A multidisciplinary approach with psychological support, physiotherapy and spinal cord stimulation (SCS) brought pain relief, rehabilitation and improvement in the quality of life.Conclusion: The present case report demonstrates the occurrence of multilevel (peripheral and central) pathological modifications in the nervous system of a CRPS-1 patient with dystonia. This conclusion is based on the patient’s pain being resistant to anesthetic blocks at different levels and the favourable, at least initially, response to SCS. The importance of the bio-psycho-social model is also suggested, permitting behavioural change.

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The Currarino Triad: Neurosurgical Considerations

Neurosurgery ◽

10.1227/01.neu.0000209945.87233.6a ◽

2006 ◽

Vol 58 (5) ◽

pp. 924-929 ◽

Cited By ~ 34

Author(s):

Pieter J. Emans ◽

Jasper van Aalst ◽

Ernest L.W. van Heurn ◽

Carlo Marcelis ◽

Gauke Kootstra ◽

...

Keyword(s):

Spinal Cord ◽

Spinal Canal ◽

Chart Review ◽

Surgical Intervention ◽

Tethered Cord ◽

Retrospective Chart Review ◽

Risks And Benefits ◽

Chiari Type 1 Malformation ◽

Spine Imaging

Abstract OBJECTIVES: The Currarino triad, a relatively uncommon hereditary disorder, is often associated with tethered cord and anterior myelomeningocele. Little is known of the implications of these neuroanatomic malformations or of the neurosurgical attitude. The objective of this study is to identify the spinal cord and meningeal malformations associated with the Currarino triad and to discuss the risks and benefits of surgical intervention. METHODS: We analyzed the spinal cord malformations and the neurosurgical involvement with the Currarino triad by retrospective chart review. RESULTS: The Currarino triad neuroanatomic malformations were identified in five patients. The Currarino triad was associated with a tethered cord in three patients, a myelomeningocele in five patients, a syrinx in two patients, a fistula between the colon and spinal canal in two patients, and an Arnold-Chiari Type 1 malformation in one patient. CONCLUSION: Full spine imaging is required for all patients diagnosed with the Currarino triad. Magnetic resonance imaging of the head should be performed in every patient with neuroanatomic anomalies. Surgery of an anterior myelomeningocele is not necessarily indicated, only in the rare case in which the space-occupying aspect is expected to cause constipation or problems during pregnancy or delivery. Constipation directly after birth is seen in virtually all patients with the triad. Therefore, constipation cannot be used to diagnose a tethered cord syndrome nor indicate tethered cord release. Fistulas between the spinal canal and colon have to be operated on directly.

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