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Child's Nervous System : ChNS :... Nov 2022Myelomeningocele (MMC) is the representative entity of open neural tube defects resulting from an error during primary neurulation. However, cases of MMC in the region...
PURPOSE
Myelomeningocele (MMC) is the representative entity of open neural tube defects resulting from an error during primary neurulation. However, cases of MMC in the region of the secondary neural tube (below the junction of S1 and S2 vertebrae) are sometimes encountered. We aimed to analyze the clinical features of atypical "low-lying" MMC in comparison to the typical MMC and suggest possible pathoembryogenesis.
METHODS
From 1986 to 2020, 95 MMC patients were treated in our institute. A retrospective review of the radiological and clinical information was performed. We defined "low-lying" MMCs as those with fascia or lamina defects below the S1-2 interspinous ligament.
RESULTS
Thirty-one out of the 95 MMC patients were identified as having low-lying MMC. The percentage of low-lying MMC within the entire MMC group increased dramatically (19% from 1990 to 1999 and 48% from 2000 to 2020). Thirty-nine percent of the low-lying MMCs were associated with hydrocephalus, and 36% showed the Chiari malformation. Clean intermittent catheterization was being performed by 52% of the patients and 46% had a motor weakness. The proportions of hydrocephalus, neurological symptoms, and the number of related procedures in the low-lying MMC were substantially lower than the typical MMC in our cohort and the literature.
CONCLUSIONS
We present cases of atypical MMC occurring in the region of secondary neurulation. These cases provide clues that secondary neurulation may lead to open neural defects. Future experiments with animal models supporting what we have seen in the clinics will greatly enhance the understanding of the developmental process of neurulation and the corresponding anomalies.
Topics: Humans; Meningomyelocele; Neurulation; Hydrocephalus; Arnold-Chiari Malformation; Neural Tube Defects
PubMed: 35821435
DOI: 10.1007/s00381-022-05591-8 -
Child's Nervous System : ChNS :... Jul 2021Teratomas are benign germ cell tumors originating from at least two germ layers, mostly of ectodermal and mesodermal origin. Mature teratomas are the most common subtype...
Teratomas are benign germ cell tumors originating from at least two germ layers, mostly of ectodermal and mesodermal origin. Mature teratomas are the most common subtype and develop from well-differentiated germ cells. Although the location is extragonadal in infants and young children, gonadal involvement occurs in adults. Midline defects can be diagnosed on prenatal imaging. In this case report, a newborn with mature cystic teratoma and a prenatal lumbar midline closure defect was presented. The perinatal preliminary diagnosis was meningomyelocele. However, a cystic sac containing exophytic solid tumoral tissues approximately 5 × 5 × 3 cm in size was seen macroscopically in the lumbar region after the birth, and this tumor was totally resected. After tumor excision, spina bifida aperta and vertebral exophytic bony tissue compatible with diastematomyelia were observed at the bottom of the surgical field and were totally resected. In the short-term follow-up, no additional problem occurred. The histopathological diagnosis was "mature cystic teratoma." In conclusion, extragonadal teratoma accompanying diastematomyelia could easily be mistaken for meningomyelocele or other common malformations. Perinatal diagnosis should be provided using radiodiagnostic methods, and total surgical excision and accurate pathological diagnosis are essential to avoid the risk of recurrence.
Topics: Child, Preschool; Dermoid Cyst; Humans; Meningomyelocele; Neoplasm Recurrence, Local; Spine; Teratoma
PubMed: 33404722
DOI: 10.1007/s00381-020-05017-3 -
Journal of Pediatric Rehabilitation... 2023This study aimed to analyze organ system-based causes and non-organ system-based mechanisms of death (COD, MOD) in people with myelomeningocele (MMC), comparing...
PURPOSE
This study aimed to analyze organ system-based causes and non-organ system-based mechanisms of death (COD, MOD) in people with myelomeningocele (MMC), comparing urological to other COD.
METHODS
A retrospective review was performed of 16 institutions in Canada/United States of non-random convenience sample of people with MMC (born > = 1972) using non-parametric statistics.
RESULTS
Of 293 deaths (89% shunted hydrocephalus), 12% occurred in infancy, 35% in childhood, and 53% in adulthood (documented COD: 74%). For 261 shunted individuals, leading COD were neurological (21%) and pulmonary (17%), and leading MOD were infections (34%, including shunt infections: 4%) and non-infectious shunt malfunctions (14%). For 32 unshunted individuals, leading COD were pulmonary (34%) and cardiovascular (13%), and leading MOD were infections (38%) and non-infectious pulmonary (16%). COD and MOD varied by shunt status and age (p < = 0.04), not ambulation or birthyear (p > = 0.16). Urology-related deaths (urosepsis, renal failure, hematuria, bladder perforation/cancer: 10%) were more likely in females (p = 0.01), independent of age, shunt, or ambulatory status (p > = 0.40). COD/MOD were independent of bladder augmentation (p = >0.11). Unexplained deaths while asleep (4%) were independent of age, shunt status, and epilepsy (p >= 0.47).
CONCLUSION
COD varied by shunt status. Leading MOD were infectious. Urology-related deaths (10%) were independent of shunt status; 26% of COD were unknown. Life-long multidisciplinary care and accurate mortality documentation are needed.
Topics: Female; Humans; Meningomyelocele; Retrospective Studies; Cause of Death; Ventriculoperitoneal Shunt; Hydrocephalus
PubMed: 38073338
DOI: 10.3233/PRM-220086 -
British Journal of Neurosurgery Aug 2023Early closure of the meningocele, meningomyelocele, is essential to prevent complications such as hypothermia, infection in the postnatal period. But for some reasons,... (Review)
Review
BACKGROUND
Early closure of the meningocele, meningomyelocele, is essential to prevent complications such as hypothermia, infection in the postnatal period. But for some reasons, it is not always possible to repair early. The possibility of malign transformation should be considered in long-term due to nonhealing ulcers and cerebrospinal fluid (CSF) fistula and frequent infections in an adult patient with meningomyelocele. The possibility of conversion to malignancy in the control of an untreated meningomyelocele patient with (CSF) drainage should be especially kept in mind.
CASE DESCRIPTION
A case is described of a malignant transformation at the site of a myelomeningocele in a 22-year-old woman. The lumbosacral region was deformed by a large meningomyelocele 10 cm in diameter, with areas of scar and ulcer. For 7 years prior to this presentation, the lesion was a large fistula in the roof of the open myelomeningocele. She underwent continuous CSF draining. A biopsy was done which revealed it as squamous cell carcinoma.
CONCLUSION
Early closure of meningocele, meningomyelocele is essential to prevent complications such as hypothermia, infection in the postnatal period. Also, especially if there is continuous CSF exposure, the possibility of malignant change should be kept in mind in neglected cases presenting in an adult.
Topics: Adult; Female; Humans; Young Adult; Meningomyelocele; Meningocele; Hypothermia; Plastic Surgery Procedures; Carcinoma, Squamous Cell
PubMed: 30652927
DOI: 10.1080/02688697.2018.1554178 -
Neurosurgery Dec 2023Evolving technologies have influenced the practice of myelomeningocele repair (MMCr), including mandatory folic acid fortification, advances in prenatal diagnosis, and...
BACKGROUND AND OBJECTIVES
Evolving technologies have influenced the practice of myelomeningocele repair (MMCr), including mandatory folic acid fortification, advances in prenatal diagnosis, and the 2011 Management of Myelomeningocele Study (MOMS) trial demonstrating benefits of fetal over postnatal MMCr in select individuals. Postnatal MMCr continues to be performed, especially for those with limitations in prenatal diagnosis, health care access, anatomy, or personal preference. A comprehensive, updated national perspective on the trajectory of postnatal MMCr volumes and patient disparities is absent. We characterize national trends in postnatal MMCr rates before and after the MOMS trial publication (2000-2010 vs 2011-2019) and examine whether historical disparities persist.
METHODS
This retrospective, cross-sectional analysis queried Nationwide Inpatient Sample data for postnatal MMCr admissions. Annual and race/ethnicity-specific rates were calculated using national birth registry data. Time series analysis assessed for trends relative to the year 2011. Patient, admission, and outcome characteristics were compared between pre-MOMS and post-MOMS cohorts.
RESULTS
Between 2000 and 2019, 12 426 postnatal MMCr operations were estimated nationwide. After 2011, there was a gradual, incremental decline in the annual rate of postnatal MMCr. Post-MOMS admissions were increasingly associated with Medicaid insurance and the lowest income quartiles, as well as increased risk indices, length of stay, and hospital charges. By 2019, race/ethnicity-adjusted rates seemed to converge. The mortality rate remained low in both eras, and there was a lower rate of same-admission shunting post-MOMS.
CONCLUSION
National rates of postnatal MMCr gradually declined in the post-MOMS era. Medicaid and low-income patients comprise an increasing majority of MMCr patients post-MOMS, whereas historical race/ethnicity-specific disparities are improving. Now more than ever, we must address disparities in the care of MMC patients before and after birth.
Topics: Pregnancy; Female; Humans; United States; Meningomyelocele; Retrospective Studies; Cross-Sectional Studies; Fetus; Neurosurgical Procedures
PubMed: 37477441
DOI: 10.1227/neu.0000000000002604 -
The Pan African Medical Journal 2022
Topics: Humans; Meningocele; Meningomyelocele; Spinal Dysraphism
PubMed: 36405669
DOI: 10.11604/pamj.2022.42.288.36209 -
Current Opinion in Pediatrics Aug 2020Fetal intervention is a dynamic field with wide-reaching implications on neonatal ICU admissions and the care of neonates with congenital anomalies. The aim of this...
PURPOSE OF REVIEW
Fetal intervention is a dynamic field with wide-reaching implications on neonatal ICU admissions and the care of neonates with congenital anomalies. The aim of this review is to summarize recent advancements in fetal surgery and provide a broad understanding of how these topics interrelate.
RECENT FINDINGS
Advancements in prenatal imaging and diagnosis have dramatically expanded the indications for fetal intervention. Most recently, there has been a large focus on evaluating minimally invasive strategies of fetal intervention, notably fetoscopic surgery, and the use of stem cells for fetal treatment of myelomeningocele. With the advances in fetal intervention, neonatal care has adapted to the needs of these various patients to help improve the outcomes of this unique population.
SUMMARY
Fetal intevention relies on a multidisciplinary team from prenatal imaging and maternal fetal medicine to fetal surgery and postnatal subspecialty care, particuarly neonatology. Fetal intervention uniquely involves two patients, both mother and fetus, and therefore, has unique risks and considerations, particularly in the advancement of the field. As the number of conditions suited to fetal intervention grows, awareness and advancement of the postnatal intensive care necessary for these patients are essential.
Topics: Female; Fetal Diseases; Fetoscopy; Humans; Infant, Newborn; Intensive Care Units, Neonatal; Meningomyelocele; Pregnancy; Prenatal Care
PubMed: 32692057
DOI: 10.1097/MOP.0000000000000900 -
Journal of Orthopaedic Surgery and... Aug 2021Myelomeningocele (MMC) is the most common and severe form of spina bifida and imposes a significant burden on patients and the healthcare system. Recently, the... (Review)
Review
BACKGROUND
Myelomeningocele (MMC) is the most common and severe form of spina bifida and imposes a significant burden on patients and the healthcare system. Recently, the multidisciplinary management of MMC has become popular. Herein, we aimed to review the orthopedic management, outcomes, and complications of the of patients with MMC eyeing a multidisciplinary approach.
METHODS
We searched PubMed and EMBASE to find relevant studies published before August 2020. All studies that included clinical management of MMC patients and published earlier than 2000 were considered for review on the condition that they reported at least one orthopedic intervention and the rate of complications. We excluded review articles, case reports, case series, letters, commentaries, editorials, and conference abstracts. The primary and secondary goals of our review were to report the outcomes and complication rates of multidisciplinary management for MMC patients.
RESULTS
Twenty-six studies included data for the management of 229,791 patients with MMC and were selected. Sixteen studies reported multidisciplinary management in addition to orthopedic management. From those, 11 (42.31%) included urologic management, 13 (50%) neurosurgical management, 11 (42.31%) neurologic management, and 5 (19.23%) gastrointestinal management. All studies included postnatal operations and related management. No randomized clinical trial was found in our search.
CONCLUSION
Orthopedic approaches play a key role in MMC management by alleviating spinal deformities, particularly scoliosis, and hip, foot, and ankle complications. However, the most appropriate management, whether surgical or non-surgical, may vary for different patients, given disease severity and the age of patients.
Topics: Humans; Meningomyelocele; Orthopedics; Scoliosis
PubMed: 34389028
DOI: 10.1186/s13018-021-02643-8 -
Fetal and Pediatric Pathology Feb 2021Congenital spinal lipomatous malformations (spinal lipomas, lipomyeloceles, and lipomyelomeningoceles) are closed neural tube defects over the lower back.... (Review)
Review
BACKGROUND
Congenital spinal lipomatous malformations (spinal lipomas, lipomyeloceles, and lipomyelomeningoceles) are closed neural tube defects over the lower back. Differentiation from some other closed neural tube defects in this region can be problematic for pathologists.
MATERIALS AND METHODS
This review is based on PubMed searches of the embryology, gross and histopathologic findings, and laboratory reporting requisites for retained medullary spinal cords, coccygeal medullary vestiges and cysts, myelocystoceles, true human vestigial tails, and pseudotails for comparison with congenital spinal lipomatous malformations.
RESULTS
Embryology, imaging, gross and histopathology of these closed neural tube lesions have different but overlapping features compared to congenital spinal lipomatous malformations, requiring context for diagnosis.
CONCLUSION
The lipomyelocele spectrum and to some degree all of the malformations discussed, even though they may not share gross appearance, anatomic site, surgical approach, or prognosis, require clinical and histopathologic correlation for final diagnosis.
Topics: Humans; Lipoma; Meningomyelocele; Neural Tube Defects; Spinal Cord; Spinal Dysraphism
PubMed: 31535937
DOI: 10.1080/15513815.2019.1651799 -
Fetal Diagnosis and Therapy 2023Spina bifida is the most common congenital anomaly of the central nervous system and the first non-fatal fetal lesions to be addressed by fetal intervention. While... (Review)
Review
Spina bifida is the most common congenital anomaly of the central nervous system and the first non-fatal fetal lesions to be addressed by fetal intervention. While research in spina bifida has been performed in rodent, nonhuman primate, and canine models, sheep have been a model organism for the disease. This review summarizes the history of development of the ovine model of spina bifida, previous applications, and translation into clinical studies. Initially used by Meuli et al. [Nat Med. 1995;1(4):342-7], fetal myelomeningocele defect creation and in utero repair demonstrated motor function preservation. The addition of myelotomy in this model can reproduce hindbrain herniation malformations, which is the leading cause of mortality and morbidity in humans. Since inception, the ovine models have been validated numerous times as the ideal large animal model for fetal repair, with both locomotive scoring and spina bifida defect scoring adding to the rigor of this model. The ovine model has been used to study different methods of myelomeningocele defect repair, the application of various tissue engineering techniques for neuroprotection and bowel and bladder function. The results of these large animal studies have been translated into human clinical trials including Management of Meningocele Study (MOMS) trial that established current standard of care for prenatal repair of spina bifida defects, and the ongoing trials including the Cellular Therapy for In Utero Repair of Myelomeningocele (CuRe) trial using a stem cell patch for repair. The advancement of these life savings and life-altering therapies began in sheep models, and this notable model continues to be used to further the field including current work with stem cell therapy.
Topics: Pregnancy; Female; Animals; Sheep; Dogs; Humans; Meningomyelocele; Spinal Dysraphism; Fetus; Prenatal Care; Meningocele
PubMed: 37393899
DOI: 10.1159/000531750