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Child's Nervous System : ChNS :... Apr 2024In this case report, we aimed to describe the clinical presentation, surgical approach, and follow-up of a patient with rare anterior meningocele associated with...
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.
Topics: Female; Child; Humans; Adolescent; Meningocele; Fistula; Spinal Diseases; Sacrum; Magnetic Resonance Imaging
PubMed: 38224364
DOI: 10.1007/s00381-024-06286-y -
BMJ Case Reports Jan 2024
Topics: Humans; Meningocele; Cerebrospinal Fluid Rhinorrhea; Syncope; Postoperative Complications
PubMed: 38290984
DOI: 10.1136/bcr-2023-259235 -
Clinical EEG and Neuroscience Mar 2024We highlight an under-recognized epileptic pathology in a 56-year-old left-handed female with progressive right facial numbness and weekly focal seizures characterized... (Review)
Review
We highlight an under-recognized epileptic pathology in a 56-year-old left-handed female with progressive right facial numbness and weekly focal seizures characterized by episodic aphasia. She was found to have a left frontoparietal intradiploic meningoencephalocele (IDME). Her only epilepsy risk factor was minor head trauma 10 years prior to presentation. She underwent craniotomy for encephalocele resection and mesh cranioplasty without residual neurological deficits and excellent seizure outcome: at 3-year follow-up, she was still seizure-free since surgery, except for an isolated breakthrough seizure at 7 postoperative months when she discontinued her preoperative regimen of Lacosamide monotherapy. Traumatic IDME is a rare condition and rarely presents with seizures. Symptoms may arise up to decades following minor head trauma and are progressive in nature. The likely definitive treatment is cranioplasty and dural repair with or without resecting the protruding parenchyma.
Topics: Humans; Female; Middle Aged; Encephalocele; Magnetic Resonance Imaging; Electroencephalography; Meningocele; Epilepsy; Seizures; Craniocerebral Trauma; Treatment Outcome
PubMed: 36520585
DOI: 10.1177/15500594221144420 -
Frontiers in Surgery 2024To study the classification, diagnosis, and treatment strategies of complex tethered cord syndrome (C-TCS) on the basis of the patients' clinical symptoms, imaging...
OBJECTIVE
To study the classification, diagnosis, and treatment strategies of complex tethered cord syndrome (C-TCS) on the basis of the patients' clinical symptoms, imaging findings, and therapeutic schedule.
METHODS
The clinical data of 126 patients with C-TCS admitted to our department from January 2015 to December 2020 were retrospectively analyzed. Classification criteria for C-TCS were established by analyzing the causes of C-TCS. Different surgical strategies were adopted for different types of C-TCS. The Kirollos grading, visual analogue scale (VAS), critical muscle strength, and Japanese Orthopaedic Association (JOA) scores were used to evaluate the surgical outcomes and explore individualized diagnosis and treatment strategies for C-TCS.
RESULTS
C-TCS was usually attributable to three or more types of tether-causing factors. The disease mechanisms could be categorized as pathological thickening and lipomatosis of the filum terminal (filum terminal type), arachnoid adhesion (arachnoid type), spina bifida with lipomyelomeningocele/meningocele (cele type), spinal lipoma (lipoma type), spinal deformity (bone type), and diastomyelia malformation (diastomyelia type). Patients with different subtypes showed complex and varied symptoms and required individualized treatment strategies.
CONCLUSION
Since C-TCS is attributable to different tether-related factors, C-TCS classification can guide individualized surgical treatment strategies to ensure complete release of the tethered cord and reduce surgical complications.
PubMed: 38322409
DOI: 10.3389/fsurg.2024.1277322 -
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 -
Child's Nervous System : ChNS :... Dec 2023Abnormalities in notochordal development can cause a range of developmental malformations, including the split notochord syndrome and split cord malformations. We... (Review)
Review
Syndrome of anterior neural stalk, vertebral abnormality, enteric duplication cyst, and diaphragmatic hernia related to persistent ventral neurenteric canal: report of two cases.
PURPOSE
Abnormalities in notochordal development can cause a range of developmental malformations, including the split notochord syndrome and split cord malformations. We describe two cases that appear related to unusual notochordal malformations, in a female and a male infant diagnosed in the early postnatal and prenatal periods, which were treated at our institution. These cases were unusual from prior cases given a shared constellation of an anterior cervicothoracic meningocele with a prominent "neural stalk," which coursed ventrally from the spinal cord into the thorax in proximity to a foregut duplication cyst.
METHODS
Two patients with this unusual spinal cord anomaly were assessed clinically, and with neuroimaging and genetics studies.
RESULTS
We describe common anatomical features (anterior neural stalk arising from the spinal cord, vertebral abnormality, enteric duplication cyst, and diaphragmatic hernia) that support a common etiopathogenesis and distinguish these cases. In both cases, we opted for conservative neurosurgical management in regards to the spinal cord anomaly. We proposed a preliminary theory of the embryogenesis that explains these findings related to a persistence of the ventral portion of the neurenteric canal.
CONCLUSION
These cases may represent a form of spinal cord malformation due to a persistent neurenteric canal and affecting notochord development that has rarely been described. Over more than 1 year of follow-up while managed conservatively, there was no evidence of neurologic dysfunction, so far supporting a treatment strategy of observation.
Topics: Infant; Humans; Male; Female; Neural Tube Defects; Spinal Cord; Nervous System Malformations; Cysts; Hernias, Diaphragmatic, Congenital; Syndrome; Magnetic Resonance Imaging
PubMed: 37776334
DOI: 10.1007/s00381-023-06169-8 -
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 -
Child's Nervous System : ChNS :... Sep 2023This is a letter to share the clinical experience we had with neonates born with a specific feature of spina bifida. The lesion is like a meningocele containing skim...
This is a letter to share the clinical experience we had with neonates born with a specific feature of spina bifida. The lesion is like a meningocele containing skim amount of fluid, with a tiny dimple around the center of the cutaneous lesion which causes inward retraction of the dysplastic coverage. This feature is in favor of accompanied split cord malformation (SCM) type I, and the central nidus is in continuous with the dural sleeve around the bony septum of SCM. By recognition of this clinical clue, surgical repair can be planned to perform with appropriate provision, particularly foreseeing the amount of intraoperative bleeding and duration of anesthesia in the newborn patients.
Topics: Infant, Newborn; Humans; Meningocele; Magnetic Resonance Imaging; Neural Tube Defects; Spinal Dysraphism; Spinal Cord
PubMed: 37310473
DOI: 10.1007/s00381-023-06006-y -
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 -
BMJ Case Reports Feb 2024Spontaneous meningoencephaloceles (MECs) are sparsely documented in the literature. Those occurring in the frontal sinus are an exceedingly rare entity. MECs are...
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.
Topics: Female; Humans; Cerebrospinal Fluid Rhinorrhea; Frontal Sinus; Tomography, X-Ray Computed; Encephalocele; Meningocele
PubMed: 38355205
DOI: 10.1136/bcr-2023-258886