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Brain and Nerve = Shinkei Kenkyu No... Aug 2023Currarino syndrome is characterized by a triad of anorectal malformations, sacral defects, and presacral masses. Although it is not extremely rare, this report presents...
Currarino syndrome is characterized by a triad of anorectal malformations, sacral defects, and presacral masses. Although it is not extremely rare, this report presents a surgical case of Currarino syndrome with syringomyelia and discusses related literature. The patient is a girl, aged 2 years and 2 months, who presented with marked constipation, chronic cystitis, and lower limb weakness. After examining the patient through magnetic resonance imaging, we diagnosed her with rectal compression due to meningocele and syringomyelia. The base of the meningocele was detached, and the spinal cord was untethered. One week after surgery, her lower limb weakness and constipation improved. Following up on symptoms and performing imaging is essential to determine a treatment plan for Currarino syndrome. (Received 28 February, 2023; Accepted 22 March, 2023; Published 1 August, 2023).
Topics: Humans; Female; Syringomyelia; Meningocele; Rectum; Constipation; Magnetic Resonance Imaging; Muscle Weakness
PubMed: 37537744
DOI: 10.11477/mf.1416202452 -
American Journal of Perinatology May 2024Ultrasound (US) is a common imaging modality used to evaluate spinal anomalies in newborns. However, many indications for the use of spinal US are associated with low...
OBJECTIVE
Ultrasound (US) is a common imaging modality used to evaluate spinal anomalies in newborns. However, many indications for the use of spinal US are associated with low diagnostic yield. The purpose of this study is to evaluate the indications and the diagnostic utility of spinal USs performed in newborns at our institution. We also review patient presentations for caudal regression syndrome (CRS) that was identified from the USs performed.
STUDY DESIGN
This study is a retrospective review of spinal USs performed between January 1, 2006, and December 31, 2021, in newborns at a single institution. Indications for each US and any associated abnormalities were noted. Infants with abnormal USs showing CRS are described with their long-term medical outcomes.
RESULTS
A total of 592 USs were performed during the specified time period of which 72 (12%) were abnormal. The presence of a sacral dimple was the most common indication for performing a spinal US, although only 14 (4%) were identified as abnormal. Of these 14, 6 (43%) were further evaluated by spinal magnetic resonance imaging (MRI) at the recommendations of a pediatric radiologist and of these, only 2 (14%) had abnormal MRI findings. The two newborns with abnormal MRI findings had mothers with diabetes mellitus in their pregnancies. Of note, one additional newborn had abnormalities on spinal US that was never confirmed on MRI due to being lost to follow-up. Among the other indications, anorectal anomalies (odds ratio [OR], 7.55; 95% confidence interval [CI], 3.01-18.91), spinal mass (OR, 17.99; 95% CI, 7.86-41.2), and meningocele were most associated with abnormal findings.
CONCLUSION
Overall, spinal US has a low diagnostic yield. Sacral dimple was the most common indication for performing a spinal US but had a low yield with few long-term sequelae. Anorectal anomalies had a strong association with abnormal US findings.
KEY POINTS
· Sacral dimple is a common indication for spinal ultrasound.. · Spinal ultrasound has low diagnostic yield when performed for sacral dimple.. · Caudal regression syndrome is associated with maternal diabetes and numerous long-term comorbidities..
Topics: Humans; Infant, Newborn; Retrospective Studies; Ultrasonography; Female; Male; Magnetic Resonance Imaging; Meningocele; Sacrococcygeal Region; Sacrum; Spine; Abnormalities, Multiple
PubMed: 36528022
DOI: 10.1055/a-2000-6232 -
Lin Chuang Er Bi Yan Hou Tou Jing Wai... Jun 2024To explore the methods of resection, dura and skull base repair and reconstruction of cranionasal communication tumor. Data of 31 patients with cranionasal communication...
To explore the methods of resection, dura and skull base repair and reconstruction of cranionasal communication tumor. Data of 31 patients with cranionasal communication tumor who underwent dura and skull base reconstruction after tumor resection from 2018 to 2022 were collected. Follow-up lasted for 3 to 41 months. A total of 31 patients were enrolled, including 20 males and 11 females. The ages ranged from 19 to 74 years, with a median age of 57 years old. There were 17 benign lesions(one case of hemangioma, one case of Rathke cyst, one case of squamous papilloma, one case of craniopharyngioma, two cases of meningocele, two cases of varus papilloma, two cases of meningioma of grade Ⅰ, three cases of schwannoma, four cases of pituitary tumor) and 14 malignant lesions(one case of osteosarcoma, one case of poorly differentiated carcinoma, two cases of varus papilloma malignancy, two cases of olfactory neuroblastoma, two cases of adenocarcinoma, two cases of adenoid cystic carcinoma, four cases of squamous cell carcinoma) . Sixteen cases underwent nasal endoscopy combined with craniofacial incision and 15 cases underwent nasal endoscopy surgery alone. Complete resection of the mass and dura and skull base reconstruction were performed in all 31 patients, and free graft repair was performed in 8 cases(fascia lata in 5 cases and nasal mucosa in 3 cases). Twenty-three cases were repaired with pedicled flaps(septal mucosal flap alone in 11 cases, septal mucosal flap combined with free graft in 6 cases, and cap aponeurosis combined with free graft in 6 cases). Eight out of 31 patients underwent skull base bone repair. Postoperative cerebral hemorrhage occurred in 1 case, cerebrospinal fluid leakage in 1 case, intracranial infection in 2 cases. All patients were successfully treated without severe sequelae. Cerebrospinal fluid leakage and intracranial infection occurred in one patient after radiotherapy, who recovered after conservative treatment. All 17 patients with benign lesions survived. Thirteen out of 14 patients with malignant lesions received radiotherapy after surgery, nine survived without recurrence, five cases recurred, of which 2 survived with tumor, one underwent reoperation and 2 died. Cranionasal communication tumors are high-risk diseases of anterior and middle skull base, and various surgical repair methods could be selected after complete resection of the tumor. Successful reconstruction and multidisciplinary cooperation are crucial for treatment outcome.
Topics: Humans; Male; Middle Aged; Female; Adult; Plastic Surgery Procedures; Aged; Skull Base; Young Adult; Dura Mater; Skull Base Neoplasms
PubMed: 38858114
DOI: 10.13201/j.issn.2096-7993.2024.06.008 -
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 -
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 :... Dec 2023Chiari III malformation is considered to be a rare congenital abnormality in human with very high mortality rates. Seventy percent of Chiari III is found to be...
Chiari III malformation is considered to be a rare congenital abnormality in human with very high mortality rates. Seventy percent of Chiari III is found to be associated with C1 arch defect as reported by Cakirer (Clin Imaging 27:1-4, 2003). The herniation of posterior fossa elements or dysplastic neural tissue is a must to stamp it as Chiari 3 malformation. The malformation is a result of the abnormal development of craniovertebral junction (CVJ). The CVJ developed from the occipital somites and the first spinal sclerotome. The major role in the development of the CVJ is played by the fourth occipital somite, which is otherwise known as "proatlas." The Chiari III anomalies are due to a result of proatlas defect, which results from failures of segmentation, failures of fusion of different components of each bone, or hypoplasia and ankylosis. We are presenting a case of a 1-year 4-month-old female child who presented with pedunculated swelling at the suboccipital region. The swelling was cystic and with pulsation. On evaluation, we found Chiari III anomaly with C1 posterior arch deficiency (proatlas defect). He was surgically managed. The outcome of the patient was good. Despite literature concluding Chiari 3 malformation with an unfavorable outcome, however, meticulous management and good pre- and postoperative care, physical therapy, and follow-up are necessary for good outcome.
Topics: Female; Humans; Infant; Arnold-Chiari Malformation; Cranial Fossa, Posterior; Decompression, Surgical; Head; Magnetic Resonance Imaging; Spine
PubMed: 37368065
DOI: 10.1007/s00381-023-06044-6 -
Neurology India 2023
Topics: Humans; Meningocele; Spinal Dysraphism; Hydrocephalus; Skull
PubMed: 38174450
DOI: 10.4103/0028-3886.391358 -
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 -
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 -
British Journal of Neurosurgery Dec 2023In surgical correction of frontoethmoidal encephalocele with transcranial approach, advanced facilities are required. While with extracranial approach, though deemed as...
OBJECTIVE
In surgical correction of frontoethmoidal encephalocele with transcranial approach, advanced facilities are required. While with extracranial approach, though deemed as a safe option in area with limited facilities, procedure was associated with cerebrospinal fluid (CSF) leakage. In this case series, we evaluate the results of transcele reconstruction of frontoethmoidal encephalocele, our approach to reduce the incidence of CSF leaks by focusing on the closure of layers by its embryological derivatives, by its bone fusion.
METHODS
A case series of 14 patients with various types of frontoethmoidal encephalocele who underwent surgery for defect closure using transcele approach between June 2015 and December 2018 was carried out. Surgery was done by a single surgeon in the Department of Neurosurgery of Cipto Mangunkusumo Hospital in Jakarta, Indonesia. We collected the data of intraoperative blood loss and any signs of infection and CSF leak during the patients' one-year follow up. Bone fusion in the defect was evaluated from 3D rendering of head CT scan that was performed before and in 1 year after surgery.
RESULTS
The median percentage of intraoperative blood loss was 5.9% (0.5-18.7%). All 3D rendering of head CT post-surgery during 1 year follow up showed bone fusion and no patient experienced CSF leaks or CNS infections.
CONCLUSIONS
This study showed that using transcele approach in frontoethmoidal reconstruction could give good bone fusion with minimal blood loss and no CSF leaks. We assumed that closure of the layers by its embryological derivative played an important part in bone fusion and in reducing the incidence of CSF leaks, although this finding has to be validated with large-scale studies.
Topics: Humans; Encephalocele; Blood Loss, Surgical; Meningocele; Plastic Surgery Procedures; Cerebrospinal Fluid Leak
PubMed: 35254175
DOI: 10.1080/02688697.2022.2047156