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PloS One 2022Notch receptors are determinants of cell fate and function, and play an important role in the regulation of bone development and skeletal remodeling. Lateral Meningocele...
Notch receptors are determinants of cell fate and function, and play an important role in the regulation of bone development and skeletal remodeling. Lateral Meningocele Syndrome (LMS) is a monogenic disorder associated with NOTCH3 pathogenic variants that result in the stabilization of NOTCH3 and a gain-of-function. LMS presents with neurological developmental abnormalities and bone loss. We created a mouse model (Notch3em1Ecan) harboring a 6691TAATGA mutation in the Notch3 locus, and heterozygous Notch3em1Ecan mice exhibit cancellous and cortical bone osteopenia. In the present work, we explored whether Notch3 antisense oligonucleotides (ASO) downregulate Notch3 and have the potential to ameliorate the osteopenia of Notch3em1Ecan mice. Notch3 ASOs decreased the expression of Notch3 wild type and Notch36691-TAATGA mutant mRNA expressed by Notch3em1Ecan mice in osteoblast cultures without evidence of cellular toxicity. The effect was specific since ASOs did not downregulate Notch1, Notch2 or Notch4. The expression of Notch3 wild type and Notch36691-TAATGA mutant transcripts also was decreased in bone marrow stromal cells and osteocytes following exposure to Notch3 ASOs. In vivo, the subcutaneous administration of Notch3 ASOs at 25 to 50 mg/Kg decreased Notch3 mRNA in the liver, heart and bone. Microcomputed tomography demonstrated that the administration of Notch3 ASOs ameliorates the cortical osteopenia of Notch3em1Ecan mice, and ASOs decreased femoral cortical porosity and increased cortical thickness and bone volume. However, the administration of Notch3 ASOs did not ameliorate the cancellous bone osteopenia of Notchem1Ecan mice. In conclusion, Notch3 ASOs downregulate Notch3 expression in skeletal cells and their systemic administration ameliorates cortical osteopenia in Notch3em1Ecan mice; as such ASOs may become useful strategies in the management of skeletal diseases affected by Notch gain-of-function.
Topics: Abnormalities, Multiple; Animals; Bone Diseases, Metabolic; Bone and Bones; Meningocele; Mice; Oligonucleotides, Antisense; RNA, Messenger; Receptor, Notch2; Receptor, Notch3; Receptors, Notch; X-Ray Microtomography
PubMed: 35536858
DOI: 10.1371/journal.pone.0268225 -
The Pan African Medical Journal 2022
Topics: Humans; Spinal Dysraphism; Meningomyelocele
PubMed: 36338552
DOI: 10.11604/pamj.2022.42.258.35894 -
Journal of Personalized Medicine Apr 2024Spontaneous orbital cephaloceles are a rare condition. The purpose of this study is to provide a description of a clinical case and to carry out a systematic literature... (Review)
Review
BACKGROUND
Spontaneous orbital cephaloceles are a rare condition. The purpose of this study is to provide a description of a clinical case and to carry out a systematic literature review.
METHODS
A systematic review of the English literature published on the Pubmed, Scopus, and Web of Science databases was conducted, according to the PRISMA recommendations.
RESULTS
A 6-year-old patient was admitted for right otomastoiditis and thrombosis of the sigmoid and transverse sinuses, as well as the proximal portion of the internal jugular vein. Radiological examinations revealed a left orbital mass (22 × 14 mm) compatible with asymptomatic orbital meningocele (MC) herniated from the superior orbital fissure (SOF). The child underwent a right mastoidectomy. After the development of symptoms and signs of intracranial hypertension (ICH), endovascular thrombectomy and transverse sinus stenting were performed, with improvement of the clinical conditions and reduction of the orbital MC. The systematic literature review encompassed 29 publications on 43 patients with spontaneous orbital MC. In the majority of cases, surgery was the preferred treatment.
CONCLUSIONS
The present case report and systematic review highlight the importance of ICH investigation and a pathophysiological-oriented treatment approach. The experiences described in the literature are limited, making the collection of additional data paramount.
PubMed: 38793047
DOI: 10.3390/jpm14050465 -
Indian Journal of Otolaryngology and... Dec 2023Fallopian canal meningocele is an extremely rare cause of cerebrospinal fluid rhinorrhoea. Also, due to complex anatomical relations and a lack of experience, its...
Fallopian canal meningocele is an extremely rare cause of cerebrospinal fluid rhinorrhoea. Also, due to complex anatomical relations and a lack of experience, its management remains a challenge. Here we report a case focusing on its clinical course, radiological features, and management.
PubMed: 38027530
DOI: 10.1007/s12070-023-03963-3 -
Journal of Magnetic Resonance Imaging :... Sep 2022Idiopathic intracranial hypertension (IIH) is a disorder characterized by elevated intracranial pressure (ICP) that predominantly affects young obese women. IIH is a... (Review)
Review
Idiopathic intracranial hypertension (IIH) is a disorder characterized by elevated intracranial pressure (ICP) that predominantly affects young obese women. IIH is a diagnosis of exclusion. That is, if increased ICP is suspected, magnetic resonance imaging and magnetic resonance venography of the brain are recommended to exclude secondary causes. Imaging findings, such as empty sella, orbital findings, meningocele, and encephalocele, are not diagnostic of ICP, nor does their absence exclude ICP either. Therefore, venous manometry is recommended as the gold standard for evaluation, regardless of previous anatomic imaging results. Venous manometry is an invasive examination that is frequently applied to derive physiologic information concerning the nature of the pressure gradient. However, the pathogenesis of IIH has not been fully elucidated. The presence of venous sinus stenosis in a subset of patients has provided some support for the potential mechanisms underlying this condition. Hence, this review provides an up-to-date discussion on the potential pathogenic mechanisms of IIH with a special focus on venous sinus stenosis. LEVEL OF EVIDENCE: 1 TECHNICAL EFFICACY STAGE: 2.
Topics: Constriction, Pathologic; Cranial Sinuses; Female; Humans; Intracranial Hypertension; Phlebography; Pseudotumor Cerebri; Stents; Vascular Diseases
PubMed: 35357056
DOI: 10.1002/jmri.28177 -
Laboratory Animals Apr 2021An otherwise healthy two-month-old female C57BL/6J mouse presented with a left-sided head tilt. Differential diagnoses included idiopathic necrotizing arteritis,...
An otherwise healthy two-month-old female C57BL/6J mouse presented with a left-sided head tilt. Differential diagnoses included idiopathic necrotizing arteritis, bacterial otitis media/interna (, , , and ), encephalitis, an abscess, neoplasia, a congenital malformation and an accidental or iatrogenic head trauma. Magnetic resonance imaging (MRI) revealed a large space-occupying right olfactory lobe intra-axial lesion with severe secondary left-sided subfalcine herniation. Following imaging, the animal was euthanized due to poor prognosis. Histopathologic examination revealed a unilateral, full-thickness bone defect at the base of the cribriform plate and nasal conchae dysplasia, resulting in the herniation of the olfactory bulb into the nasal cavity. There was also a left midline-shift of the frontal cortex and moderate catarrhal sinusitis in the left mandibular sinus. The MRI and histopathologic changes are consistent with a congenital malformation of the nasal cavity and frontal aspect of the skull known as an ethmoidal meningoencephalocele. Encephaloceles are rare abnormalities caused by herniation of contents of the brain through a defect in the skull which occur due to disruption of the neural tube closure at the level anterior neuropore or secondary to trauma, surgical complications, cleft palate or increased intracranial pressure. The etiology is incompletely understood but hypotheses include genetics, vitamin deficiency, teratogens, infectious agents and environmental factors. Ethmoidal encephaloceles have been reported in multiple species including humans but have not been reported previously in mice. There are multiple models for spontaneous and induced craniofacial malformation in mice, but none described for ethmoidal encephaloceles.
Topics: Animals; Diagnosis, Differential; Encephalocele; Ethmoid Bone; Fatal Outcome; Female; Magnetic Resonance Imaging; Meningocele; Mice; Mice, Inbred C57BL
PubMed: 32787540
DOI: 10.1177/0023677220944449 -
AJNR. American Journal of Neuroradiology Aug 2019The prevalence of patent facial nerve canals and meningoceles along the facial nerve course is unknown. This study aimed to assess the frequency of such findings in... (Review)
Review
BACKGROUND AND PURPOSE
The prevalence of patent facial nerve canals and meningoceles along the facial nerve course is unknown. This study aimed to assess the frequency of such findings in asymptomatic patients.
MATERIALS AND METHODS
A retrospective review was completed of patients with high-resolution MR imaging of the temporal bone whose clinical presentations were unrelated to facial nerve pathology. Facial nerve canals were assessed for the presence of fluid along each segment and meningoceles within either the labyrinthine segment (fluid-filled distention, ≥1.0-mm diameter) or geniculate ganglion fossa (fluid-filled distention, ≥2.0-mm diameter). If a meningocele was noted, images were assessed for signs of CSF leak.
RESULTS
Of 204 patients, 36 (17.6%) had fluid in the labyrinthine segment of the facial nerve canal and 40 (19.6%) had fluid in the geniculate ganglion fossa. Five (2.5%) had meningoceles of the geniculate ganglion fossa; no meningoceles of the labyrinthine segment of the canal were observed. No significant difference was observed in the ages of patients with fluid in the labyrinthine segment of the canal or geniculate ganglion compared with those without fluid ( = .177 and = .896, respectively). Of the patients with a meningocele, one had a partially empty sella and none had imaging evidence of CSF leak or intracranial hypotension.
CONCLUSIONS
Fluid within the labyrinthine and geniculate segments of the facial nerve canal is relatively common. Geniculate ganglion meningoceles are also observed, though less frequently. Such findings should be considered of little clinical importance without radiologic evidence of CSF otorrhea, meningitis, or facial nerve palsy.
Topics: Facial Nerve Diseases; Humans; Magnetic Resonance Imaging; Meningocele; Prevalence; Retrospective Studies; Temporal Bone
PubMed: 31296524
DOI: 10.3174/ajnr.A6133 -
Archives of Craniofacial Surgery Jun 2020Meningothelial hamartoma is a benign tumor composed of ectopic meningothelial elements in the dermis and subcutaneous tissue. It mainly occurs in the scalp; however, the...
Meningothelial hamartoma is a benign tumor composed of ectopic meningothelial elements in the dermis and subcutaneous tissue. It mainly occurs in the scalp; however, the incidence is extremely low. The origin of meningothelial hamartoma has not been elucidated; nevertheless, it has been theorized that it derives from ectopic meningothelial rests displaced during embryologic development. It can be diagnosed histologically as proliferation of connective tissue elements and cells arranged in solid nests, resembling vascular tumors. On immunohistochemistry, it stains positively for epithelial membrane antigen and vimentin. At least 17 cases have been reported, verifying the rarity of the lesion. We present the case of a 16-year-old male patient with a soft scalp mass which was thought to be a lipoma, but turned out to be a meningothelial hamartoma on histology.
PubMed: 32630991
DOI: 10.7181/acfs.2019.00766 -
Journal of the Belgian Society of... 2023To investigate the computed tomography and magnetic resonance imaging manifestations of Joubert syndrome (JS).
OBJECTIVE
To investigate the computed tomography and magnetic resonance imaging manifestations of Joubert syndrome (JS).
METHOD
In this retrospective analysis, we investigated the clinical and imaging characteristics of JS in a cohort of twelve pediatric patients with confirmed diagnoses. Specifically, we analyzed both computed tomography (CT) and magnetic resonance imaging (MRI) manifestations in this population. CTs were performed on four patients and MRIs were performed on twelve, respectively.
RESULTS
JS is characterized by specific CT and MRI findings, including midline fissure, batwing, or triangular formations of the fourth ventricle between the bilateral cerebellar hemispheres, and molar sign at the midbrain level. All twelve cases in this cohort exhibited these traits, along with other cerebral abnormalities, such as dysplasia of the corpus callosum in two cases, gray matter heterotopia in one case, and occipital meningocele in one case.
CONCLUSION
JS has distinctive CT and MRI characteristics that can be clinically identified.
PubMed: 37781478
DOI: 10.5334/jbsr.3283 -
Neurology India 2022The culprit of trigeminal neuralgia (TGN) may occur at any point between the nerve's root entry zone (REZ) and Meckel's cave. Meckel's cave meningoencephaloceles are... (Review)
Review
BACKGROUND
The culprit of trigeminal neuralgia (TGN) may occur at any point between the nerve's root entry zone (REZ) and Meckel's cave. Meckel's cave meningoencephaloceles are rare middle cranial fossa defects that usually remain asymptomatic but may contain prolapsed trigeminal nerve rootlets and result in TGN. Their management and surgical outcomes remain poorly understood.
OBJECTIVES
To perform a systematic review of clinical presentation and surgical outcomes of middle fossa defects presenting with trigeminal nerve-related symptoms.
MATERIALS AND METHODS
A systematic review was conducted in accordance with the PRISMA guidelines for all reports of middle cranial fossa defects causing trigeminal nerve-related symptoms. The pathophysiology, presentation, surgical management, and outcomes are discussed and illustrated with a case.
RESULTS
Initial search from inception to March 2021 identified 33 articles for screening. After applying inclusion and exclusion criteria, 6 articles were included representing a total of 8 cases in addition to our case (n = 9). All 9 patients were females and 33.3% (n = 3) presented with classic trigeminal neuralgia. "Empty sella" syndrome and radiologic signs of intracranial hypertension were present in 40%-62%. No patient presented with cerebrospinal fluid leak. The preferred treatment modality was surgical with subtemporal extradural repairs using combinations of autologous fat and muscle grafts and synthetic dura. Postoperative outcomes were only available in 55.5% (n = 5) of the cases, and nearly all reported complete symptom resolution, except for one case in which the meningoencephalocele wall was incised, along with trigeminal rootlets adhered to it. Our patient had immediate and durable symptom relief after a 4-year follow-up.
CONCLUSIONS
MEC containing prolapsed trigeminal nerve rootlets can cause typical trigeminal neuralgia from chronic pulsatile stress. This supports the hypothesis that the compressive or demyelinating culprit can locate more ventrally on the course of the trigeminal nerve. Subtemporal extradural surgical repairs can be safe, effective, and durable. Incising the MEC wall should be avoided as it may have trigeminal rootlets adhered to it.
Topics: Cranial Fossa, Middle; Dura Mater; Encephalocele; Female; Humans; Male; Meningocele; Trigeminal Nerve; Trigeminal Neuralgia
PubMed: 35864609
DOI: 10.4103/0028-3886.349629