Utility of MRI neurography in neurofibromatosis type I: Case example and review of MRI neurography literature.

Conclusion: We present a case of NF-1 that was diagnosed using MRN following a protracted clinical course. MRN is a diagnostic modality for NF-1 and other peripheral nerve disorders. PMID: 30783543 [PubMed]
Source: Surgical Neurology International - Category: Neurosurgery Tags: Surg Neurol Int Source Type: research

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ConclusionA case of SNF with classic NF1 mutation in a classic NF1 family was identified for the first time, indicating that SNF may share the same gene mutation with NF1, while the different manifestation of NF1 and SNF may be related to gene modification.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research
A patient with neurofibromatosis type 1 presented to the pain clinic with neuropathic pain. Thoracolumbar magnetic resonance imagining revealed meningocele T12–L2 with cauda equina distortion. After becoming pregnant, the patient interrupted opioid treatment, refusing pharmacological treatment until the pain became unbearable. Transcutaneous electrical nerve stimulation (TENS) was proposed. The patient used this treatment from the first trimester until month 6 postpartum, achieving good analgesia without any adverse effects for the mother or child. TENS may be a viable treatment for neuropathic pain (NP) during pregn...
Source: A&A Case Reports - Category: Anesthesiology Tags: Case Reports Source Type: research
We present the first characterization of pain-related behaviors in a pig model of NF1, identifying unchanged agitation scores, lower tactile thresholds (allodynia), and decreased response latencies to thermal laser stimulation (hyperalgesia) in NF1+/ex42del (females only) pigs. Male NF1+/ex42del pigs with tumors showed reduced sleep quality and increased resting, 2 health-related quality-of-life symptoms found to be comorbid in people with NF1 pain. We explore these phenotypes in relationship to suppression of the increased activity of the N-type voltage-gated calcium (CaV2.2) channel by pharmacological antagonism of phosp...
Source: Pain - Category: Anesthesiology Tags: Research Paper Source Type: research
ConclusionMPNST are difficult to manage because of their aggressive nature and the limitations in early diagnosis and management. In patients with Von Recklinghausens disease, malignancy must be suspected when a patient presents with the complaints as mentioned in this case report.
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research
ConclusionNeck nerve tumors are very often benign with low degenerative potential. Surgery is the treatment of choice after risk/benefit analysis. However, there is no clearly defined consensus regarding the timing of surgery for these lesions.
Source: European Annals of Otorhinolaryngology, Head and Neck Diseases - Category: ENT & OMF Source Type: research
Source: Journal of Pain Research - Category: Anesthesiology Tags: Journal of Pain Research Source Type: research
We report a rare autopsy case of neurofibromatosis type 1 ‐associated malignant peripheral nerve sheath tumor carcinomatous pleurisy with giant intrathoracic meningoceles. A 57 ‐year‐old man with neurofibromatosis type 1 (NF‐1) and intrathoracic meningoceles was admitted to hospital after presenting with neck pain and progressive dyspnoea. On admission, a chest computed tomography scan demonstrated right pleural effusion, neck tumour, intrathoracic meningoceles, and rib metastasis. The myelography showed no transportation between the intrathoracic meningoceles and pleural cavity. As a result, these radiological fin...
Source: Respirology Case Reports - Category: Respiratory Medicine Authors: Tags: Case Report Source Type: research
AbstractA 51-year old presented with a 6-month history of increasing pelvic/lower back pain with nocturnal waking and episodes of anorexia and vomiting. Examination revealed right torticollis and Horner ’s syndrome, and a large abdominal mass arising from the pelvis. Magnetic resonance and positron emission tomography imaging revealed (A) a 14 cm heterogeneous enhancing mass, abutting the left kidney with standardised uptake value max = 2.9, (B) a large heterogeneous enhancing pelvic mass (C ) mesenteric adenopathy standardised uptake value max = 10.3 and (D) 6 cm right lung apex...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
We reported two cases of patients with a history of von Recklinghausen's disease. Both of them suffered sudden chest pain. Chest-X ray revealed a hemi-thoracic opacity. Enhanced chest computed tomography showed massive hemothorax, but no evidence of tumors or an obvious bleeding point in the thorax. After we had ensured a stable hemodynamic condition, we performed video-assisted thoracic surgery to remove the hematoma. No evidence of bleeding was noticed in the first patient whereas an active bleeding was observed in the second patient. We could not determine which vessel was responsible of the hemorrhage. Electrocoagulati...
Source: Monaldi Archives for Chest Disease - Category: Respiratory Medicine Tags: Monaldi Arch Chest Dis Source Type: research
This study aimed to report a case of gastrointestinal stromal tumor in the jejunal region in a patient with type 1 neurofibromatosis, followed-up for two years, who underwent laparoscopic segmental enterectomy and diagnosis determined by histopathology and immunohistochemistry. The diagnosis of small intestine gastrointestinal stromal tumor is challenging because of its low incidence, nonspecific symptoms, relative inaccessibility of the small intestine to conventional endoscopic examination, broad spectrum of radiological appearances, and the fact that the nature of the mass is difficult to determine with imaging examinat...
Source: Journal of Coloproctology - Category: Gastroenterology Source Type: research
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