Asymptomatic dural ectasia in neurofibromatosis-1: A case report

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Characterisation of a Novel Radiological Entity in Neurofibromatosis Type 1 - Diffuse Neurofibromatous Tissue

Objectives: To describe the prevalence, demographics and characteristics of a novel radiological entity in neurofibromatosis type 1: diffuse neurofibromatous tissue (DNFT) Design: Aretrospective, descriptive review of MDT and radiology notes. Methods: Of the 1049 patients from the NF1 adult radiology MDT minutes (2009–2021), 77 patients with DNFT were identified and clinical data were collected. MRI scans from 20 DNFT cases were interpreted. Results: Although overall gender distribution of DNFT was roughly even, it was more prevalent in females (73.9%) at the sacroiliac joint—where this entity was most common (29.9%). DNFT often involves the fibrous part of the sacroiliac joint and is seen as diffuse, streaky infiltrating tissues that cause bone erosion without mass effect. The period prevalence of scoliosis and dural ectasia on corresponding spinal levels with spinal DNFT was 62.8 and 51.2%, respectively (n=43). Conclusions: This is the first reported descriptive study of DNFT in NF1 and the first to describe its MRI features in detail. The predilection for the sacroiliac joint and the possible associations with scoliosis and dural ectasia provide important insights that can form the basis for future studies whilst also suggesting the need for active surveillance of this tissue in NF1 patients.

Spontaneous intracranial hypotension secondary to congenital spinal dural ectasia and genetic mosaicism for tetrasomy 10p: illustrative case

BACKGROUND Spontaneous intracranial hypotension has historically been a poorly understood pathology that is often unrecognized and undertreated. Even more rarely has it been described in pediatric patients with an otherwise benign past medical history. OBSERVATIONS Herein the authors describe one of the youngest patients ever reported, a 2-year-old girl who developed severe headaches, nausea, and vomiting and experienced headache relief after lying down. Imaging revealed tonsillar herniation 14 mm below the foramen magnum, presumed to be a Chiari malformation, along with extensive dural cysts starting from thoracic level T2 down to the sacrum. She was found to have streaky skin pigmentary variation starting from the trunk down to her feet. Genetic analysis of skin biopsies revealed mosaicism for an isodicentric marker chromosome (10p15.3–10q11.2 tetrasomy) in 27%–50% of cells. After undergoing a suboccipital and cervical decompression at an outside institution, she continued to be symptomatic. She was referred to the authors’ hospital, where she was diagnosed with spontaneous intracranial hypotension. LESSONS After receiving a series of epidural blood patches, the patient experienced almost complete relief of her symptoms. To the authors’ knowledge, this is the first time this chromosomal anomaly has ever been reported in a living child, and this may represent a new genetic association with dural ectasia.

A Large Intrathoracic Mass in A Patient With Neurofibromatosis Type 1

Background and Importance: Dural ectasia is circumferential extension or dilatation of the dural sac, it is commonly associated with Neurofibromatosis type 1 (NF1). Because NF1 is associated with a high likelihood of tumor formation, it is critical to distinguish it from other posterior mediastinal cancers such as neurofibroma, neuroblastoma, and ganglioneuroma. Scoliosis is the most frequently observed feature in NF1 patients with spinal deformities. Moreover, there are several distinctive radiographic features, including dural ectasia, defective pedicles, and spondylolisthesis, which are relatively less common in these patients. Surgery may be performed for stabilization of the spine. Case Presentation: The present study reports on a 62-year-old female with neurofibromatosis type 1 who was referred for an unusual chest X-ray and chest Computed Tomography (CT) revealing a thoracic mass while she was hospitalized and under observation for dyspnea. The chest X-ray film showed homogenous opacity with a well-defined margin in the right apex. The chest CT showed an enlarged intervertebral foramen and defected vertebral arch around the mass and scoliosis. Although the pre-operative diagnosis was dumbbell type neurinoma, the tumor was found to be a protrusion of dura mater with spinal fluid out of the spinal canal. Part of the wall was excised, the residual opening was repaired, and surgical stabilization was performed. Conclusion: Retrospectively, magnetic resonance imaging showed the characteristics of thoracic dural ectasia and anterior meningocele, which, in an asymptomatic case, require regular radiographic follow-ups. Surgical intervention is an alternative for patients with spinal deformities or symptomatic patients due to the adverse effects of spinal cord compression and mediastinal structures.

Incidence of intraspinal abnormalities in congenital scoliosis: a systematic review and meta-analysis

Objective This is the first systematic review and meta-analysis on the overall incidence of intraspinal abnormalities in patients with congenital scoliosis (CS) and potential influencing factors. Methods We searched three large electronic databases (PubMed, EMBASE, and Cochrane Library) for potentially relevant studies. The quality of the included studies was assessed independently by two authors using the Methodological Index for Non-Randomized Studies (MINORS) criteria. Data on the number of CS patients, number of CS patients with intraspinal abnormalities, sex of the patients, and CS types were extracted from the included studies. R software was used to pool and analyze all the extracted data. Results This meta-analysis included 10 articles, and 671 of 1863 CS patients undergoing magnetic resonance imaging (MRI) examinations were identified to have intraspinal abnormalities. The overall incidence of intraspinal abnormalities in the patients with CS was 37% (95% CI, 29–45%). Diastematomyelia was the most common intraspinal abnormality and was detected in 45.60% of the patients with intraspinal abnormalities (306/671). The remaining intraspinal abnormalities included syringomyelia (273/671, 40.69%), tethered cord (190/671, 28.32%), low conus (58/671, 8.64%), intraspinal mass (39/671, 5.81%), Chiari malformation (32/671, 4.77%), fatty filum (27/671, 4.02%), spina bifida (occulta excluded) (17/671, 2.53%), tumor (17/671, 2.53%), cyst (12/671, 1.79%), syringomyelus (4/671, 0.60%), dural ectasia (1/671, 0.15%), and undiagnosed cord MRI hyperintensity (1/671, 0.15%). The patient’s sex and CS type were not factors that affected the incidence of intraspinal abnormalities in CS patients (all P > 0.05). Conclusions This meta-analysis revealed that the overall incidence of intraspinal abnormalities detected by MRI in CS patients was 37%. Diastematomyelia was the most common intraspinal abnormality. The patient’s sex and CS type were not factors that affected the incidence of intraspinal abnormalities in CS patients.