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Italian Journal of Pediatrics Jul 2021Juvenile idiopathic inflammatory myopathies (JIIMs) are a group of heterogenous, acquired, autoimmune disorders that affect the muscle. While the association between...
BACKGROUND
Juvenile idiopathic inflammatory myopathies (JIIMs) are a group of heterogenous, acquired, autoimmune disorders that affect the muscle. While the association between IIMs and malignancy has been widely reported in adults, cancer-associated myositis (CAM) is rare in children, so that routine malignancy screening is not generally performed. This report shows a case of severe CAM in a child.
CASE PRESENTATION
An 11-years-old girl presented with worsening dyspnea after a 3-weeks history of progressive proximal weakness, myalgia, dysphagia, and weight loss. Her past history was remarkable for a type I Arnold-Chiari malformation associated with an anterior sacral meningocele. Physical examination showed severe hypotony and hypotrophy. Pulse oximetry and blood test showed a type II respiratory failure (SpO 88%, pCO 68 mmHg) and increased muscle enzyme levels (CPK 8479 U/L, AST 715 U/L, ALT 383 U/L, LDH 1795 U/L). The patient needed invasive mechanical ventilation. Inflammatory myositis was considered and treatment with intravenous methylprednisolone (30 mg/Kg/day for 3 days followed by 2 mg/Kg/day) and IVIG (1 g/kg/day for 2 days) was started. Muscle biopsy showed endomysial and perimysial necrosis and inflammation. The presence of serum anti-TIF1-γ antibody positivity led to a malignancy screening. Whole-body MRI showed a mature teratoma underneath sacral meningocele and both lesions were surgically removed. Given the histological and clinical severity of the myopathy, mycophenolate (500 mg twice a day) and rituximab (360 mg/m, 4 weekly infusions) were added. Due to extreme muscular wasting, severe malnutrition and intolerance to enteral feeding the patient needed a transient tracheostomy and parenteral nutrition, followed by physiotherapy, speech therapy and nocturnal non-invasive ventilation. A complete remission was achieved 3 months after.
CONCLUSIONS
Among cancer-associated autoantibodies (CAAs) in adult patients, anti-TIF1-γ carries the highest risk of CAM, which recognizes with a high likelihood a paraneoplastic pathogenesis. In children, anti-TIF1-γ antibody has been associated with severe cutaneous disease, lipodystrophy, and chronic disease course, but not with CAM, which is overall rare in younger patients. Severe onset of a JIIM, especially if anti-TIF1-γ antibody positive, should prompt suspect of a CAM and lead to a screening for malignancy.
Topics: Biomarkers, Tumor; Child; Combined Modality Therapy; Diagnosis, Differential; Drug Therapy, Combination; Female; Humans; Magnetic Resonance Imaging; Meningocele; Myositis; Noninvasive Ventilation; Parenteral Nutrition; Physical Therapy Modalities; Teratoma; Tracheostomy
PubMed: 34210321
DOI: 10.1186/s13052-021-01098-1 -
Combined Endoscopic Endonasal and Transpalatal Repair of Congenital Anterior Cranial Fossa Agenesis.Operative Neurosurgery (Hagerstown, Md.) Jun 2023Congenital basal meningoceles and encephaloceles are rare pathologies that may present in isolation or with characteristic-associated clinical features. Rarely, children...
BACKGROUND
Congenital basal meningoceles and encephaloceles are rare pathologies that may present in isolation or with characteristic-associated clinical features. Rarely, children with congenital midline defects may present with massive encephaloceles secondary to anterior cranial fossa agenesis. Traditionally, transcranial approaches with frontal craniotomies were used to reduce the herniated contents and repair the skull base defect. However, high rates of morbidity and mortality associated with craniotomies have favored the development and adoption of less-invasive techniques.
OBJECTIVE
To present a novel technique for combined endoscopic endonasal and transpalatal repair of a giant basal meningocele through an extensive sphenoethmoidal skull base defect.
METHODS
A representative case of congenital anterior cranial fossa agenesis with a giant meningocele was selected. Clinical and radiological presentations were reviewed, and the intraoperative surgical technique was documented and recorded.
RESULTS
A surgical video highlighting each surgical step was included to complement the description of the technique. The surgical outcome from the selected case is also presented.
CONCLUSION
This report describes a combined endoscopic endonasal and transpalatal approach to repair an extensive anterior skull base defect with herniation of intracranial content. This technique capitalizes on the advantages of each approach to address this complex pathology.
Topics: Child; Humans; Cranial Fossa, Anterior; Encephalocele; Meningocele; Skull Base; Endoscopy
PubMed: 37071753
DOI: 10.1227/ons.0000000000000636 -
Pediatric Dermatology 2015Neural tube dysraphisms are congenital anomalies resulting from impaired formation of structures along the craniospinal axis during central nervous system development.... (Review)
Review
Neural tube dysraphisms are congenital anomalies resulting from impaired formation of structures along the craniospinal axis during central nervous system development. When these malformations are large or lack a skin covering, they are easily recognized, whereas smaller or skin-covered malformations may not be readily apparent. Due to the intimate embryologic origin of the skin and nervous system, these occult malformations are often heralded by associated cutaneous abnormalities. In this article, the common clinical presentations and cutaneous markers of craniospinal dysraphism are reviewed, along with the recommended imaging modalities.
Topics: Biomarkers; Dermoid Cyst; Encephalocele; Female; Humans; Infant, Newborn; Male; Meningocele; Neural Tube; Neural Tube Defects; Prevalence; Prognosis; Risk Assessment; Skin Abnormalities; Spinal Dysraphism
PubMed: 25557454
DOI: 10.1111/pde.12485 -
American Journal of Otolaryngology 2020Along the medical practice of an Otologist he/she will face middle cranial fossa (MCF) bone defects. The purpose of this study is to contribute to the understanding of... (Review)
Review
UNLABELLED
Along the medical practice of an Otologist he/she will face middle cranial fossa (MCF) bone defects. The purpose of this study is to contribute to the understanding of this possible life threatening condition, and to share and discuss our management approach. A literature review is also presented.
STUDY DESIGN
Retrospective case series at García-Ibáñez Otology and Skull base private center referral.
METHODS
This study is based on the analysis of data collected from 19 cases of temporal bone meningoencephalic herniations surgically treated from 2006 to 2018. The follow-up ranged from 18 to 162 months with a mean average of 44.5 months.
MAIN FINDINGS
Meningoencephalic herniations were divided into four etiologic groups: spontaneous (24.8%), secondary to chronic otitis media (21.8%), iatrogenic (45.9%), and posttraumatic (7.5%). Different surgical techniques were used as treatment: transmastoid (TM) approach (27.8%), MCF approach (27.8%), combined technique (transmastoid plus minicraniotomy, 3%), and middle ear obliteration with blind sac closure of the external auditory canal (41.4%).
CONCLUSIONS
Variables like bilateral hearing level, size and location of the bone defect and existence of CSF leak should be analyzed to select the safest and most effective closing surgical approach.
Topics: Adult; Aged; Cerebrospinal Fluid Leak; Cranial Fossa, Middle; Encephalocele; Female; Follow-Up Studies; Humans; Male; Meningocele; Middle Aged; Neurosurgical Procedures; Retrospective Studies; Temporal Bone; Time Factors; Young Adult
PubMed: 32505907
DOI: 10.1016/j.amjoto.2020.102560 -
Medicine Apr 2020Anterior spinal meningoceles are rare neuroanatomic abnormality formed by protrusion of the spinal meninges through a defect in the vertebral column. Presently,...
RATIONALE
Anterior spinal meningoceles are rare neuroanatomic abnormality formed by protrusion of the spinal meninges through a defect in the vertebral column. Presently, therapeutic options for anterior spinal meningoceles are still controversial. The objective of this study is to discuss the individualized management of giant anterior spinal meningoceles.
PATIENT CONCERNS AND DIAGNOSES
We analyzed 4 patients with anterior spinal meningoceles between 2007 and 2014 in our department by retrospective chart review, two of whom were anterior sacral meningoceles (ASMs), and another2 were intrathoracic meningoceles (ITMs).
INTERVENTIONS AND OUTCOMES
Patients mainly presented with compressive symptoms including rectal irritation, dyspnea (patient 3) and fixed neurologic deficits (patient 4). Three out of 4 patients received surgical treatment, one of which underwent reoperation. After surgery, meningoceles in 1 patient completely disappeared. Two patients acquired the stability of the size of the meningoceles.
LESSONS
Management of anterior spinal meningoceles often requires precise treatment based on the different conditions of each patient. Surgical intervention has been proposed for the treatment of symptomatic anterior spinal meningoceles. The goal of surgery is to safely disconnect the linkage between the cyst and CSF from subarachnoid space to prevent further enlargement of the cyst or reaccumulating of cystic fluid.
Topics: Adolescent; Adult; Female; Humans; Male; Meningocele; Middle Aged; Neurosurgical Procedures; Precision Medicine; Retrospective Studies; Sacrum; Thorax
PubMed: 32243391
DOI: 10.1097/MD.0000000000019631 -
World Neurosurgery May 2024Thoracic meningocele is a rare medical condition that is usually linked to neurofibromatosis type I. Respiratory and neurologic symptoms characterize it. Although there...
Thoracic meningocele is a rare medical condition that is usually linked to neurofibromatosis type I. Respiratory and neurologic symptoms characterize it. 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. 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. 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.
PubMed: 38777317
DOI: 10.1016/j.wneu.2024.05.075 -
Clinical Practice and Cases in... Aug 2021Cerebrospinal fluid (CSF) leaks are often the result of trauma or recent surgical procedures; however, a subset can develop from non-traumatic etiologies. Cerebrospinal...
INTRODUCTION
Cerebrospinal fluid (CSF) leaks are often the result of trauma or recent surgical procedures; however, a subset can develop from non-traumatic etiologies. Cerebrospinal fluid leaks from congenital and spontaneous encephaloceles can be clinically occult and have devastating consequences if undetected for prolonged periods of time. This report highlights a unique case of meningitis after CSF leak caused by ruptured congenital meningocele during a routine nasopharyngeal swab.
CASE REPORT
A 54-year-old female with diagnosed CSF leak presented to the emergency department (ED) with acute onset of severe headache, and neck and back pain. Prior to this presentation, the patient had experienced two months of persistent headache and rhinorrhea since her coronavirus disease 2019 (COVID-19) nasopharyngeal swab. As part of her outpatient workup, an otolaryngology consultation with subsequent beta-2 transferrin testing and magnetic resonance imaging was performed and she was diagnosed with a CSF leak from ruptured congenital meningocele. On ED presentation, she was afebrile, but with mild tachycardia, leukocytosis, and meningismus. Lumbar puncture revealed acute streptococcal meningitis. This patient's meningitis developed due to prolonged occult CSF leak after her COVID-19 nasopharyngeal swab ruptured a pre-existing congenital meningocele.
CONCLUSION
Nasopharyngeal swabs are being performed much more frequently due to the COVID-19 pandemic. All front-line providers should be aware of the potential presence and rupture of congenital meningoceles in patients who have undergone recent nasopharyngeal swab when risk-stratifying for potential CSF leak and meningitis.
PubMed: 34437043
DOI: 10.5811/cpcem.2021.5.52232 -
Zhurnal Voprosy Neirokhirurgii Imeni N.... 2017The study purpose was to determine the successful outcome rate of endoscopic endonasal reconstruction of skull base CSF fistulas with removal of meningocele as well as...
PURPOSE
The study purpose was to determine the successful outcome rate of endoscopic endonasal reconstruction of skull base CSF fistulas with removal of meningocele as well as analyze disease relapses. The second purpose of the study was to describe the treatment outcomes, depending on the type, location, and size of meningocele as well as on a technique used to reconstruct the skull base defect.
MATERIAL AND METHODS
Three hundred and eleven patients diagnosed with cerebrospinal fluid (CSF) rhinorrhea who underwent surgery at the Burdenko Neurosurgical Institute in the period between 2007 and 2014 were retrospectively analyzed. Meningocele was detected in 141 (45.3%) of all patients with CSF rhinorrhea. The diagnosis was made before surgery and verified during endoscopic endonasal reconstructive closure of skull base defects. Therefore, the analysis group included all cases of meningocele and meningoencephalocele verified during surgery. The study analyzed the gender, age of surgery, follow-up period, comorbidities, use of lumbar drainage, etiology of the defect, localization, type of reconstructive material, complications, and disease relapses. We defined the efficacy of endoscopic endonasal meningocele resection with fistula reconstruction as the absence of signs of CSF rhinorrhea and a hernia sac based on the data of control CT and endoscopy performed in the late postoperative period. The follow-up period ranged from 1 month to 5 years.
RESULTS
All patients underwent endoscopic endonasal reconstruction of the skull base defect. The treatment efficacy was 110 (78%) patients for primary surgery and 26 (84%) patients for repeated surgery.
CONCLUSION
Endoscopic endonasal surgery is a safe, effective, and minimally invasive technique for treatment of meningocele and meningoencephalocele, which enables resection of a hernia sac and reconstruction of dura mater and skull base defects.
Topics: Adolescent; Adult; Aged; Cerebrospinal Fluid Rhinorrhea; Child; Child, Preschool; Encephalocele; Female; Humans; Infant; Magnetic Resonance Imaging; Male; Meningocele; Middle Aged; Nasal Cavity; Natural Orifice Endoscopic Surgery; Neuroendoscopy; Retrospective Studies; Skull Base; Treatment Outcome; Young Adult
PubMed: 28524124
DOI: 10.17116/neiro201781238-47 -
Neurology India 2023
Topics: Humans; Meningocele; Spinal Dysraphism; Hydrocephalus; Skull
PubMed: 38174450
DOI: 10.4103/0028-3886.391358 -
Archives of Disease in Childhood. Fetal... Sep 2021
Topics: Encephalocele; Female; Humans; Infant, Newborn; Meningocele; Vacuum Extraction, Obstetrical
PubMed: 32718945
DOI: 10.1136/archdischild-2020-319344