Intrathecal catheter-associated inflammatory mass in a neurofibromatosis type-1 patient receiving fentanyl and bupivacaine.

CONCLUSIONS: In the described case, CIM formation likely resulted from a combination of, 1) an unusually high fentanyl concentration, and, 2) altered infusate flow due to spinal neurofibromas. Consideration of underlying spinal pathologies, particularly mass lesions, is critical to the management of intrathecal drug delivery devices. PMID: 28808608 [PubMed]
Source: Surgical Neurology International - Category: Neurosurgery Tags: Surg Neurol Int Source Type: research

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CONCLUSION: Patients with neurofibromatoses need individualized care. They should be treated in centers of expertise where interdisciplinary consultation is available and new types of pharmacotherapy can be provided. PMID: 32657748 [PubMed - in process]
Source: Deutsches Arzteblatt International - Category: General Medicine Tags: Dtsch Arztebl Int Source Type: research
Rationale: Malignant peripheral nerve sheath tumor (MPNST) is a rare sarcoma. Owing to the lack of specific histological criteria, immunohistochemical, and molecular diagnostic markers, several differential diagnoses must be considered. Advances in molecular testing can provide significant insights for management of rare tumor. Patient concerns: The patient was a 50-year-old man with a history of lumpectomy on the right back 30 years ago. He felt a stabbing pain at the right iliac fossa and went to the local hospital. Diagnosis: By immunohistochemistry, the tumor cells stained positively for S-100 (focal +), CD34 (...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
A 51-year-old man with 30-year neurofibromatosis and 2-month elevated prostate-specific antigen and back pain underwent a 68Ga–prostate-specific membrane antigen (PSMA) PET/CT scan for possible prostate cancer. Prostate-specific membrane antigen PET/CT imaging showed no abnormal uptake of the prostate. However, in addition to PSMA uptake in his left lung, thorax, and right ilium, which was confirmed being a lung squamous cell carcinoma by a lung biopsy, widespread uptake was also observed in his skin fibroma lesions. This case demonstrates that benign neurofibromatosis could have uptake of PSMA.
Source: Clinical Nuclear Medicine - Category: Nuclear Medicine Tags: Interesting Images Source Type: research
Rationale: Airway management of patients in a lateral decubitus position (LDP), who cannot lie supine is challenging for anesthesiologists. In a previous study, laryngeal mask airway (LMA) was found to be superior to conventional endotracheal intubation in LDP. Patient Concerns: A 38-year-old man diagnosed with type I neurofibromatosis presented with pain caused by a large hematoma (28 × 8 cm) located in the left upper back. On arrival at the operating theater, he was in a right LDP because of the aggravation of pain in the supine position. Diagnoses: Laryngoscopy-guided endotracheal intubation was expe...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
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
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
Rationale: Scoliosis is the most common form of dystrophic spinal deformities in type 1 neurofibromatosis, whereas a spontaneous rotational dislocation of the lumbar spine is a rare entity. Former researchers had advocated the use of circumferential fusion performed through combined anterior-posterior approaches as the mode of treatment of this situation, but we managed to achieve a solid circumferential fusion equally using posterior approach alone. Patient concerns: A 51-year-old lady presented with severe back pain and no history of trauma, fever, or loss of weight. On examination, she showed several café-au...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
AbstractCollapsin response mediator proteins (CRMPs) are a family of ubiquitously expressed, homologous phosphoproteins best known for coordinating cytoskeletal formation and regulating cellular division, migration, polarity, and synaptic connection. CRMP2, the most studied of the five family members, is best known for its affinity for tubulin heterodimers and function in regulating the microtubule network. These functions are tightly regulated by post-translational modifications including phosphorylation, SUMOylation, oxidation, andO-GlcNAcylation. While CRMP2 ’s physiological functions rely mostly on its non-phosph...
Source: Molecular Neurobiology - Category: Neurology Source Type: research
A 45-year-old lady presented with complaints of neck pain, progressive weakness of all four limbs, numbness over the trunk and limbs for 6  months and inability to walk without support since 2 months. She was noted to have multiple cutaneous neurofibromas over the face, trunk and limbs, café-au-lait spots (Figure  1a), axillary freckling and Lisch nodules of the irises in both eyes. She had grade 4/5 muscle power in upper and lower limbs, hyperreflexia and reduced sensations below neck level. A diagnosis of neurofibromatosis type 1 (NF1), with spastic quadriparesis resulting from cervical cord com...
Source: QJM - Category: Internal Medicine Source Type: research
Discussion Skin color is primarily due to genetic factors. Melanocytes are usually found in skin in the basal layer of the epidermis which is also where the melanin usually lies. There are a range of normal skin phenotypes that have been described by Fitzpatrick and range from I-VI: I – pale white skin, blond hair, blue eyed, does not tan, always burns II – fair skin, blue eyed, tans poorly, burns easily III – darker white skin, burns initially then tans IV – light brown skin, tans easily, burns minimally V – brown skin, tans darkly easily, burns rarely VI – dark brown skin, alway...
Source: - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
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