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Journal of Medical Ultrasound 2024Prenatal diagnosis of myelomeningocele remains challenging for obstetricians, ultrasonographers, and radiologists, although the increased maternal serum... (Review)
Review
Prenatal diagnosis of myelomeningocele remains challenging for obstetricians, ultrasonographers, and radiologists, although the increased maternal serum alpha-fetoprotein level aids in the confirmative diagnosis. Fetal cervical myelomeningocele and meningocele are very rare and unique types of myelomeningocele. Prenatal diagnosis of cervical myelomeningocele and meningocele should include the differential diagnosis and association of many intracranial and spino-skeletal pathogenetic variants and genetic diseases, including subependymal nodular heterotopia and Klippel-Feil syndrome. In this report, a comprehensive review of fetal cervical myelomeningocele with its prenatal diagnosis and long-term outcomes is presented.
PubMed: 38665341
DOI: 10.4103/jmu.jmu_51_23 -
NMC Case Report Journal 2024We report a rare case of adult-onset sacral meningocele where compression triggered a specific headache. A 46-year-old woman presented with a headache, which worsened...
We report a rare case of adult-onset sacral meningocele where compression triggered a specific headache. A 46-year-old woman presented with a headache, which worsened when she was in a sitting or supine position. A subcutaneous mass was observed on her left buttock, the compression of which also induced headache. No neurological deficits were evident. Lumbar and sacral magnetic resonance imaging demonstrated a meningocele in the left dorsal buttock, connecting to the sacral cerebrospinal fluid (CSF) space, and spinal computed tomography revealed sacral dysplasia. Initial meningocele resection improved the patient's headache, but the cyst recurred 2 years later. Following repeated surgery to reinforce the meningocele orifice, the headache was relieved and has been absent for more than 6 years. The headache was due to intracranial pressure fluctuations due to CSF influx into and drainage from the meningocele. Meningocele development in adulthood can be owing to a spinal bone defect and pressure load on the spinal dura. Surgical resection can improve symptoms resulting from meningocele, and reinforcement of the orifice using an artificial surgical membrane effectively prevents recurrence.
PubMed: 38590924
DOI: 10.2176/jns-nmc.2023-0272 -
Neurosurgical Focus Apr 2024In this study, the authors aimed to describe the endoscopic transorbital approach (ETOA) in children.
OBJECTIVE
In this study, the authors aimed to describe the endoscopic transorbital approach (ETOA) in children.
METHODS
Six pediatric patients (2 girls and 4 boys) underwent the ETOA for paramedian skull base lesions at a single institution between September 2016 and February 2023.
RESULTS
The median age at the time of surgery was 7.5 (range 4-18) years. The median follow-up period was 33 (range 9-60) months. In this series, the ETOA level of difficulty included stage 1 (n = 2, 33.3%), stage 3 (n = 3, 50%), and stage 5 (n = 1, 16.7%). The ETOA was performed for tumor resection in 4 cases; the final pathology consisted of fibrous dysplasia, pilocytic astrocytoma, metastatic neuroblastoma, and choroid plexus papilloma. The procedure was also performed for repair of a petrous apex meningocele and for lateral orbital wall decompression of traumatic lateral rectus muscle entrapment. One patient experienced a transient cranial nerve III palsy after the procedure. There were no operative deaths in this series.
CONCLUSIONS
In select cases, the ETOA can be considered a minimally invasive alternative for conventional skull base approaches in the armamentarium of pediatric skull base surgery. Further investigation and the accumulation of experience are warranted in the future to enhance the efficacy and applicability of the ETOA in pediatric patients.
Topics: Male; Female; Humans; Child; Child, Preschool; Adolescent; Endoscopy; Skull Base; Neurosurgical Procedures; Petrous Bone; Orbit
PubMed: 38560935
DOI: 10.3171/2024.1.FOCUS23858 -
Birth Defects Research Mar 2024Human studies of genetic risk factors for neural tube defects, severe birth defects associated with long-term health consequences in surviving children, have...
BACKGROUND
Human studies of genetic risk factors for neural tube defects, severe birth defects associated with long-term health consequences in surviving children, have predominantly been restricted to a subset of candidate genes in specific biological pathways including folate metabolism.
METHODS
In this study, we investigated the association of genetic variants spanning the genome with risk of spina bifida (i.e., myelomeningocele and meningocele) in a subset of families enrolled from December 2016 through December 2022 in a case-control study in Bangladesh, a population often underrepresented in genetic studies. Saliva DNA samples were analyzed using the Illumina Global Screening Array. We performed genetic association analyses to compare allele frequencies between 112 case and 121 control children, 272 mothers, and 128 trios.
RESULTS
In the transmission disequilibrium test analyses with trios only, we identified three novel exonic spina bifida risk loci, including rs140199800 (SULT1C2, p = 1.9 × 10), rs45580033 (ASB2, p = 4.2 × 10), and rs75426652 (LHPP, p = 7.2 × 10), after adjusting for multiple hypothesis testing. Association analyses comparing cases and controls, as well as models that included their mothers, did not identify genome-wide significant variants.
CONCLUSIONS
This study identified three novel single nucleotide polymorphisms involved in biological pathways not previously associated with neural tube defects. The study warrants replication in larger groups to validate findings and to inform targeted prevention strategies.
Topics: Child; Humans; Case-Control Studies; Bangladesh; Spinal Dysraphism; Neural Tube Defects; Meningocele
PubMed: 38526198
DOI: 10.1002/bdr2.2331 -
Otolaryngology--head and Neck Surgery :... Jul 2024To review surgical techniques used in the endoscopic transnasal repair of pediatric basal meningoencephaloceles and compare perioperative outcomes in children <2 and... (Review)
Review
OBJECTIVE
To review surgical techniques used in the endoscopic transnasal repair of pediatric basal meningoencephaloceles and compare perioperative outcomes in children <2 and ≥2 years old.
DATA SOURCES
MEDLINE, EMBASE, and CENTRAL.
REVIEW METHODS
Data sources were searched from inception to August 22, 2022, using search terms relevant to endoscopic transnasal meningoencephalocele repair in children. Reviews and Meta-analyses were excluded. Primary outcomes were the incidence of intraoperative and postoperative complications, including cerebrospinal fluid leak, recurrence, and reintervention. Quality assessments were performed using Newcastle-Ottawa Scale, ROBIN-I, and NIH.
RESULTS
Overall, 217 patients across 61 studies were identified. The median age at surgery was 4 years (0-18 years). Fifty percent were female; 31% were <2 years. Most defects were meningoencephaloceles (56%), located transethmoidal (80%), and of congenital origin (83%). Seventy-five percent of repairs were multilayered. Children ≥2 years underwent multilayer repairs more frequently than those <2 years (P = 0.004). Children <2 years more frequently experienced postoperative cerebrospinal fluid leaks (P = 0.02), meningoencephalocele recurrence (P < 0.0001), and surgical reintervention (P = 0.005). Following multilayer repair, children <2 years were more likely to experience recurrence (P = 0.0001) and reintervention (P = 0.006).
CONCLUSION
Younger children with basal meningoencephaloceles appear to be at greater risk of postoperative complications following endoscopic endonasal repair, although the quality of available evidence is weakened by incomplete reporting. In the absence of preoperative cerebrospinal fluid leak or meningitis, it may be preferable to delay surgery as access is more conducive to successful repair in older children.
Topics: Adolescent; Child; Child, Preschool; Female; Humans; Infant; Encephalocele; Endoscopy; Meningocele; Natural Orifice Endoscopic Surgery; Nose; Postoperative Complications; Male; Infant, Newborn
PubMed: 38494838
DOI: 10.1002/ohn.711 -
Otology & Neurotology : Official... Apr 2024To describe the presentations, the diagnosis, our treatment approaches, and the outcomes for 11 patients with fallopian canal meningocele (FCM). (Review)
Review
OBJECTIVE
To describe the presentations, the diagnosis, our treatment approaches, and the outcomes for 11 patients with fallopian canal meningocele (FCM).
STUDY DESIGN MULTICENTER
Retrospective case series.
SETTING
Tertiary referral centers.
PATIENTS
Patients (N = 11) with radiographically or intraoperatively identified, symptomatic FCM.
INTERVENTIONS
Surgical repair of cerebrospinal fluid (CSF) leak and meningocele versus observation.
MAIN OUTCOME MEASURES
Presentation (including symptoms, radiographic imaging, and comorbidities), management (including surgical approach, technique for packing, use of lumbar drain), clinical outcomes (control of CSF leak, meningitis, facial nerve function), and revision surgery.
RESULTS
Patients presented with spontaneous CSF leak (n = 7), conductive (N = 11) and sensorineural hearing loss (n = 3), nonpositional intermittent vertigo (n = 3), headaches (n = 4), and recurrent meningitis (n = 1). Risk factors in our series included obesity (n = 4), Chiari 1 malformation (n = 1), and head trauma (n = 2). Noncontrast computed tomography of the temporal bone and magnetic resonance imaging were positive for FCM in 10 patients. Eight patients were managed surgically via a transmastoid approach (n = 4), combined transmastoid and middle fossa (N = 3), or middle fossa alone (n = 1); three were managed conservatively with observation. Postoperative complications included worsened facial nerve palsy (n = 1), recurrent meningitis (n = 1), and persistent CSF leak that necessitated revision (n = 1).
CONCLUSIONS
Facial nerve meningoceles are rare with variable presentation, often including CSF otorrhea. Management can be challenging and guided by symptomatology and comorbidities. Risk factors for FCM include obesity and head trauma, and Chiari 1 malformation may present with nonspecific otologic symptoms, in some cases, meningitis and facial palsy. Layered surgical repair leads to high rates of success; however, this may be complicated by worsening facial palsy.
Topics: Humans; Bell Palsy; Cerebrospinal Fluid Leak; Cerebrospinal Fluid Otorrhea; Craniocerebral Trauma; Facial Paralysis; Meningitis; Meningocele; Multicenter Studies as Topic; Obesity; Retrospective Studies
PubMed: 38478412
DOI: 10.1097/MAO.0000000000004155 -
Surgical Neurology International 2024Antiphospholipid syndrome is a complex autoimmune condition associated with the formation of recurrent thrombosis in any vascular bed throughout the body. Jugular vein...
BACKGROUND
Antiphospholipid syndrome is a complex autoimmune condition associated with the formation of recurrent thrombosis in any vascular bed throughout the body. Jugular vein thrombosis is very rare with only a 0.9% occurrence and is not typically associated with cerebrospinal rhinorrhea as a result of raised intracranial pressure.
CASE DESCRIPTION
A 54-year-old patient presented with a 9-month history of cerebrospinal fluid (CSF) rhinorrhea and headache on a background of antiphospholipid syndrome. Investigations showed a superior vena cava (SVC) and right internal jugular vein (IJV) obstruction with moderately elevated intracranial venous pressures. Her magnetic resonance imaging (MRI) brain was consistent with a CSF leak. The patient underwent successful endovascular stenting of her obstructed SVC and right IJV followed by surgical repair of a herniating meningocele in the posterior left ethmoid air cells.
CONCLUSION
CSF rhinorrhea is uncommon and never previously reported associated with SVC thrombosis induced by antiphospholipid syndrome. A combination of endovascular techniques and surgical repair is recommended for this challenging presentation.
PubMed: 38468657
DOI: 10.25259/SNI_32_2023 -
Plastic and Reconstructive Surgery.... Mar 2024The differential diagnosis of large congenital scalp defects includes aplasia cutis and encephalocele, among others. Treatment includes conservative management with...
The differential diagnosis of large congenital scalp defects includes aplasia cutis and encephalocele, among others. Treatment includes conservative management with dressings or operative management with dermal substitutes, skin grafting, local flaps, and free flaps. This case report discusses the technical considerations and reconstructive strategies for repair of a meningocele in a newborn with a large 5.5-cm scalp defect. The key strategies include preemptive cerebrospinal fluid (CSF) diversion with external ventricular drain to reduce the risk of CSF leak and mitigate wound-healing complications; careful identification and avoidance of key anatomic structures, such as the superior sagittal sinus, as anatomy may be significantly distorted due to the presence of a meningocele and after CSF diversion; and careful, thoughtful design of the local scalp flaps to maximize blood supply and to avoid tension on the final reconstruction.
PubMed: 38463706
DOI: 10.1097/GOX.0000000000005663 -
Child's Nervous System : ChNS :... Jul 2024Meckel-Gruber Syndrome (MKS) is an autosomal recessive genetic disorder, notable for its triad of occipital encephalocele, polycystic renal dysplasia, and postaxial... (Review)
Review
INTRODUCTION
Meckel-Gruber Syndrome (MKS) is an autosomal recessive genetic disorder, notable for its triad of occipital encephalocele, polycystic renal dysplasia, and postaxial polydactyly. Identified by Johann Friederich Meckel in 1822, MKS is categorized as a ciliopathy due to gene mutations. Diagnosis is confirmed by the presence of at least two key features. The condition is incompatible with life, leading to death in the womb or shortly after birth. Recent studies have largely focused on the genetic aspects of MKS, with limited information regarding the impact of neurosurgical approaches, particularly in treating encephaloceles.
METHODS
A systematic review was performed according to the PRISMA statement. The PubMed, Embase, and Web of Science databases were consulted for data screening and extraction, which was conducted by two independent reviewers. The search strategy aimed to encompass studies documenting cases of MKS with published reports of encephalocele excisions, and the search strings for all databases were: Meckel-Gruber syndrome OR Meckel Gruber syndrome OR Meckel-gruber OR Meckel Gruber.
RESULTS
The study included 10 newborns with MKS associated with occipital encephalocele or meningocele, all of whom underwent surgical repair of the occipital sac. The mean gestational age at birth was 36 (± 2) weeks. The mean of birth weight was 3.14 (± 0.85) kilograms. The average head circumference at birth was 33.82 cm (± 2.17). The mean diameter of the encephalocele/meningocele was 5.91 (± 1.02) cm. Other common central nervous system abnormalities included hydrocephalus, Dandy-Walker malformation, and agenesis of the corpus callosum. 40% required shunting for hydrocephalus. Surgery to remove the occipital sac occurred at a median age of 2.5 days (1.5-6.5). The most common post-surgical complication was the need for mechanical ventilation. The most common cause of death was pneumonia and the median age at death was 6.66 (0.03-18) months.
CONCLUSION
Our findings suggest that neurosurgical intervention, especially for managing encephaloceles, may offer some improvement in survival, albeit within a context of generally poor prognosis. However, these results should be interpreted with caution.
Topics: Humans; Encephalocele; Retinitis Pigmentosa; Neurosurgical Procedures; Ciliary Motility Disorders; Polycystic Kidney Diseases; Eye Abnormalities; Infant, Newborn
PubMed: 38459147
DOI: 10.1007/s00381-024-06346-3 -
Child's Nervous System : ChNS :... May 2024To analyze the relationship between spinal cord and vertebral abnormalities from the point of view of embryology.
PURPOSE
To analyze the relationship between spinal cord and vertebral abnormalities from the point of view of embryology.
METHODS
We analyzed the clinical and radiological data of 260 children with different types of spinal cord malformations in combination with vertebral abnormalities.
RESULTS
Among 260 individuals, approximately 109 presented with open neural tube defects (ONTDs), 83 with split cord malformations (SCMs), and 83 with different types of spinal lipomas. Pathological spina bifida emerged as the most frequent vertebral anomaly, affecting 232 patients, with a higher prevalence in ONTD. Vertebral segmentation disorders, including unsegmented bars, butterfly vertebrae, and hemivertebrae, were present in 124 cases, with a higher prevalence in SCM. The third most common spinal anomaly group consisted of various forms of sacral agenesis (58 cases), notably associated with blunt conus medullaris, spinal lipomas, and sacral myelomeningocele. Segmental aplasia of the spinal cord had a typical association with segmental spinal absence (N = 17).
CONCLUSION
The association between SCM and neuroenteric cyst/canal and vertebral segmentation disorders is strong. High ONTDs often coincide with pathological spina bifida posterior. Type 1 spinal lipomas and focal spinal nondisjunction also correlate with pathologic spina bifida. Segmental spinal absence or dysgenesis involves localized spinal and spinal cord aplasia, sometimes with secondary filar lipoma.
Topics: Child; Humans; Spine; Spinal Cord; Spinal Dysraphism; Meningocele; Neural Tube Defects; Lipoma; Magnetic Resonance Imaging; Abnormalities, Multiple; Hernia, Diaphragmatic
PubMed: 38441629
DOI: 10.1007/s00381-024-06336-5