Presacral Keratinous and Dermoid Cyst Masquerading as Meningocele - A Rare Case Report.

ABSTRACT: Presacral tumours are rare developmental tumours associated with midline closure defects. A fifteen-month-old girl presented with pain in the lower abdomen and dysuria. After examination, the child underwent investigations and was diagnosed as a presacral mass with intergluteal extension and caudal mass in the subcutaneous tissue of the left gluteal region. Complete excision of mass along with coccygectomy was done. Histopathology showed presacral as a keratinous cyst and gluteal as a dermoid cyst. Later on, the child also developed a left facial dermoid cyst which was also excised.

Endoscopic Transpterygoid Repair of Sphenoid Sinus Meningocele: A Comprehensive Case Report and Literature Review.

We report a challenging and uncommon case involving a 53-year-old Japanese man with cerebrospinal fluid (CSF) leakage caused by a meningocele in the lateral recess of the sphenoid sinus. Our innovative treatment approach involved a combination of transpterygoid and endoscopic modified medial maxillectomy techniques, with special emphasis on the preservation of the sphenopalatine artery. This strategic preservation was pivotal to the successful use of the ipsilateral nasoseptal flap for reconstruction, which played a crucial role in the prevention of postoperative CSF leakage. Otolaryngologists and neurosurgeons collaborated to perform the bath-plugging technique; effective collaboration was instrumental to the success of the procedure. This report highlights significant advancement from conventional frontal craniotomy to a more sophisticated endoscopic technique, shows the importance of meticulous surgical planning and execution, emphasizes careful preservation of critical anatomical structures during complex neurosurgical and otolaryngological procedures, and underscores the evolving landscape of surgical approaches for managing complex medical conditions.

A Giant Basal Meningoencephalocele Repair in a Neonate: A Case Report.

Primary encephaloceles are congenital mesodermal defects that result in brain tissue protruding through the skull. These defects most commonly occur occipitally but can be present anywhere in the calvarium. Meningoencephaloceles are a subclassification that includes herniation of the meninges. Basal meningoencephaloceles with cleft palate defects are the rarest form, with very few reports discussing anesthetic implications. We report a case of a giant basal meningoencephalocele that involves the nasal and oral cavities with a risk of thecal sac rupture.

Beyond the Tailbone: A Family's Journey Through Caudal Regression Syndrome-A Triple Sibship.

BACKGROUND: Caudal regression syndrome (CRS), also known as caudal agenesis, results from abnormal development of the caudal aspect of the spinal cord and vertebral column due to an earlier abnormality of gastrulation. RESULTS: This report showcases a unique scenario where three siblings, devoid of any prior family history or identifiable risk factors, exhibit symptoms of CRS and receive care at a government-run tertiary facility dedicated to children's health. In establishing a concrete diagnosis, we relied on skeletal surveys, comprehensive symptom evaluation, and medical history assessment. Additionally, we recommended further investigation through magnetic resonance imaging and genetic testing to attain a more in-depth understanding and confirmation of the condition. Unfortunately, the financial constraints faced by the parents led to the unfeasibility of pursuing these advanced diagnostic options. Given the rarity of this syndrome and the limited existing literature, our report is a significant contribution. It marks the first comprehensive exploration of CRS from the genetic and familial predisposition perspective, shedding new light on this rare condition. CONCLUSION: This case series pioneers our understanding of the familial and genetic connections between CRS and sacral agenesis. Strikingly, each subsequent generation has experienced more severe manifestations earlier, furnishing compelling evidence that underpins the genetic predisposition to CRS.

Neurofibromatosis type 1 with huge intrathoracic meningoceles misdiagnosed as pleural effusion: A case report and literature review.

BACKGROUND: Neurofibromatosis type 1 is a genetic disease that affects multiple organs and systems, leading to various clinical manifestations. In Neurofibromatosis type 1, rare intrathoracic meningoceles often occur alongside bone dysplasia. These meningoceles contain cerebrospinal fluid and can be mistakenly diagnosed as 'pleural effusion'. CASE PRESENTATION: In this case report, we mistakenly identified 'cerebrospinal fluid' as 'pleural effusion' and proceeded with drainage. This error posed significant risks to the patient and holds valuable implications for the future diagnosis and treatment of similar patients. CONCLUSIONS: In patients with Neurofibromatosis type 1 complicated by spinal deformity, there is a high incidence of intrathoracic meningoceles. Treatment strategies may differ based on the specific features of the lesions, and collaboration among multiple disciplines can significantly improve patient outcomes.

Giant Thoracic Meningocele: A Multidisciplinary Surgical Approach with Innovative Exclusion Technique.

Thoracic meningocele is a rare medical condition that is usually linked to neurofibromatosis type I.1 Respiratory and neurologic symptoms characterize it.2 Although there have been some improvements in surgical techniques, the condition has a high recurrence rate, with most cases recurring within a year of surgery.3 A 56-year-old woman was observed due to respiratory and pyramidal signs. A chest computed tomography scan and magnetic resonance imaging revealed a thoracic meningocele, occupying the lower sectors of the right hemithorax, communicating with the cerebrospinal fluid space at the T10-T11 level. Multidisciplinary surgery was performed. After selectively intubating both bronchi, the patient was placed in prone position and a posterior median thoracic spine approach was performed. After T10-T11 laminectomy, 3 dural longitudinal incisions were performed. The first incision was placed in the middle to deflate the collection, the second was made on the right side to obtain a complete view of the meningocele, and the third was made on the right lateral side to exclude the meningocele. The lateral dura at the last incision was sutured to the dura propria lining the vertebral body of T11 and T10. The paramedian and median incisions were closed, with Tachosil placed above and below the sutures. Subsequently, the patient was placed in a supine position, the right lung was deflated, and a triportal thoracoscopic approach was performed to dissect and remove the lesion.4 The breach was closed using Tachosil (Baxter Healthcare Corp, Deerfield, Illinois, USA) and fibrin glue. An early 1-month computed tomography and magnetic resonance imaging confirmed the surgery was successful.

Pseudomeningocele Mimicking Sciatica.

We report on an elderly woman with sciatica due to disc herniation, experiencing complete pain resolution following surgery. Four weeks later, she developed refractory, excruciating pain with foot palsy, prompting a lumbar magnetic resonance imaging that revealed no recurrent disc herniation. Upon exploration, intermittent nerve entrapment through the dural tear and pseudomeningocele was identified. Following dural repair and nerve repositioning, the postoperative course and long-term outcome were uneventful.In contrast to recurrent disc herniation, sciatica resulting from nerve entrapment by a pseudomeningocele is exceedingly rare. Its differential diagnosis is crucial in cases with seemingly unspectacular magnetic resonance imaging findings, as paralysis can occur in symptomatic patients. The radiological presence of a postoperative pseudomeningocele could be overlooked, and the cause of sciatica might become apparent solely during surgical exploration.

Unruptured giant lateral thoracic meningocele: extremely rare cause of cerebrospinal fluid (CSF) hypotension in neurofibromatosis type 1.

Neurofibromatosis type 1 (NF1) is a multisystem neurocutaneous disorder. Scoliosis and dural ectasia are features of the associated mesodermal dysplasia. Lateral thoracic meningoceles can develop in NF1 and progressively enlarge due to cerebrospinal fluid (CSF) pulsations. Large meningoceles can cause compressive symptoms in the thorax. We are reporting a case of a NF1 presenting with acute onset respiratory distress, who also had chronic orthostatic headaches. CT chest showed unruptured enlarging bilateral lateral thoracic meningoceles causing lung compression. MRI of the brain and spine showed features of CSF hypotension, explaining the headaches. CSF hypotension with unruptured meningoceles is extremely rare. Management of the condition is challenging since surgical removal is prone to complications due to underlying mesodermal abnormalities. Cystoperitoneal shunting to relieve lung compression may worsen CSF hypotension. A shunt with a programmable valve allowed controlled drainage and successfully relieved lung compression without worsening of orthostatic headaches in our case.

Genome-wide analysis of spina bifida risk variants in a case-control study from Bangladesh.

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 × 10-7), rs45580033 (ASB2, p = 4.2 × 10-10), and rs75426652 (LHPP, p = 7.2 × 10-14), 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.

Association of spinal cord abnormalities with vertebral anomalies: an embryological perspective.

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.

Challenges in the Management of Symptomatic Fallopian Canal Meningoceles: A Multicenter Case Series and Literature 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.

Endoscopic Transnasal Management of Meningoceles and Encephaloceles in Children: A Systematic 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.

Factors affecting clean intermittent catheterization compliance among children and adolescents with neurogenic bladder due to spina bifida and caudal regression syndrome.

INTRODUCTION: Children and adolescents with neurogenic bladder often need clean intermittent catheterization (CIC) over a long period. Our study aimed to identify factors that affect CIC compliance and to determine if CIC compliance affected short-term urological outcomes among patients in Malaysia. STUDY DESIGN: 50 patients aged 2-18 years who perform CIC were included in this cohort study. Patient compliance with CIC was evaluated using the validated Intermittent Catheterization Adherence Scale (ICAS). CIC difficulties were assessed using the validated Intermittent Catheterization Difficulty Questionnaire (ICDQ). Data was obtained on patients' co-morbidity, caregiver factors, socio-economic factors, CIC technique, access to catheters and facilities, urinary tract infections, incontinence, urology tests and treatment. Statistical analysis was performed. RESULTS: Mean age was 6.68 ± 4.34 years. 32 (64%) patients commenced CIC within the first month of life. Mean daily CIC frequency was 4.70 ± 1.33.30 (60%) participants showed strong adherence to CIC. 39 (78%) participants were able to catheterize with no or minor difficulties. Pain (6, 12%), transient blocking sensation (6.12%), and urinary incontinence (3, 6%) were the predominant difficulties encountered. CIC performed by caregiver was associated with improved adherence compared to patient self-catheterization (p = 0.039). The mean age of participants who self-catheterized was 10.7 ± 3.7 years. Strong adherence was also observed among patients who purchased their own CIC catheters (p = 0.007). Participants with lower ICDQ score were more likely to be compliant with CIC (p = 0.007). CIC adherence was not affected by patient's age, gender, co-morbidity, mobility, caregiver factors, socio-economic factors, and age at initiation of CIC. There was no significant association between CIC adherence and febrile urinary tract infections, upper tract deterioration, and bladder stones at 6 months follow-up. DISCUSSION: There is lower CIC adherence when a child begins to self-catheterize and healthcare providers should be alert during this period of transition. Though most patients with spina bifida have decreased urethral sensation, some patients do experience significant pain during CIC which may impact their compliance. These patients would need a review of their catheterization techniques to improve adherence. The limitations of our study are its modest sample size from a single center and short study period. Our study provides insights into the feasibility of instituting CIC in developing countries. CONCLUSION: Strong CIC adherence was observed among patients who were catheterized by their caregiver, purchased their own CIC catheters, and encountered minimal difficulties during catheterization. CIC adherence had no effect on short-term urological outcomes.

Long-term outcomes in sacral agenesis.

INTRODUCTION: Sacral agenesis (SA) includes a range of clinical presentations of varying severity, with implications for function and quality of life (QoL). Diagnosis is often made perinatally, and prognostic discussions become an important aspect of parental counselling. This study engaged SA sufferers and their caregivers to obtain objective, long-term patient reported outcome data. METHOD: Patients with radiologically confirmed SA from a single tertiary spinal unit underwent retrospective medical record review. Patients were then contacted by telephone to complete QoL questionnaires including EQ-ED-5L for adults and EQ-ED-Y for < 16-year-olds. Additional information including Renshaw grade, employment, living situation and bladder function was also collected. RESULTS: Twenty-six patients with SA were identified. Mean age is 23.35 years (range 0.92-63.53), 13 M:17F. Renshaw grade ranged from 1 to 4. Sixty-eight percent had associated kyphoscoliotic deformities. The majority (70%) had either impaired or absent bladder control, and 80% need walking aids to mobilise. Twenty patients completed the questionnaire (10 adults and 10 < 16-year-olds). Mean EQ-ED-5L index for adults was +0.474 (range -0.1 to +0.089, 1 = best), with a lower mean value of +0.287 (range -0.54 to +1) for the < 16-year cohort. Those undergoing spinal fusion procedures had significantly lower scores (-0.08 v +0.44, p = 0.022). CONCLUSION: This study provides an objective record of the QoL of individuals with SA, illustrating a wide variety of outcomes, with differences between younger and older individuals which may reflect the results of a long-term adaptive process. The implications for individuals should be carefully tailored to the specific deformity and the likely underlying neurological deficits.

Carolyn's window approach for spontaneous frontal sinus meningoencephalocele.

Spontaneous meningoencephaloceles (MECs) are sparsely documented in the literature. Those occurring in the frontal sinus are an exceedingly rare entity. MECs are commonly associated with cerebrospinal fluid (CSF) rhinorrhoea. CSF rhinorrhoea is frequently misdiagnosed, causing delays in diagnosis and management. The subsequently increased risk of bacterial meningitis can be life-threatening to patients. We report the case of a woman in her late 70s with a spontaneous frontal sinus MEC, presenting with a 6-month history of CSF rhinorrhoea. The patient was successfully treated using the novel Carolyn's window approach endoscopically; 9-month follow-up revealed no skull-base breach. Our case emphasises the importance of considering MEC as a differential diagnosis for clear rhinorrhoea and demonstrates successful repair through a novel surgical approach.

Posterior median surgical approach to anterior sacral meningocele complicated by rectothecal fistula.

In this case report, we aimed to describe the clinical presentation, surgical approach, and follow-up of a patient with rare anterior meningocele associated with rectothecal fistula. An 17-year-old female patient was admitted to the emergency department with meningitis. On further examinations, an anterior sacral meningocele accompanied by rectothecal fistula was detected. Appropriate antibiotic treatment was arranged and surgical plan was made with the pediatric surgery clinic. The patient underwent meningocele repair via posterior approach and colostomy operation. The patient did not experience any neurological issues after the surgery. The colostomy was reversed 3 months later, and third-month follow-up MRI showed complete regression of the meningocele sac with no neurological complications. Anterior meningocele accompanied by a rectothecal fistula is a rare and complicated case. Only seven cases of coexisting ASM and RTF have been reported in literature. Although both anterior and posterior approaches have been used for the treatment of ASM, the choice of treatment is essentially based on the patient's clinical and imaging findings.