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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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: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
ConclusionsSpinal deformity is the most common musculoskeletal manifestation of NF1. Cervical lesions are frequently asymptomatic, but patients with thoracolumbar scoliosis, dystrophic features, or a history of laminectomy should have the cervical spine carefully evaluated. For severe and progressive kyphotic deformities, most authors recommend a period of traction followed by a combined anterior-posterior fusion that is instrumented from parallel to parallel vertebra (or six or more levels). Close follow-up is very important because complications and progression are frequent.
Source: Spine Deformity - Category: Orthopaedics Source Type: research
Discussionby Dr MGK Murthy, Dr GA PrasadChronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is characterized clinically by a progressive or relapsing course of many months to years of symptoms similar to compressive myelopathy.Etiology Remains unknown, but T-cell activation in nerves plays an important role in the pathogenesis of CIDP&antigens in Schwann cells have been identified.PathologicallyCIDP is characterized by mononuclear cell infiltrates, edema, segmental demyelination, and remyelination&“onion bulb formation” which describes enlarged fascicles with increased endoneural connectiv...
Source: Sumer's Radiology Site - Category: Radiology Authors: Source Type: blogs
Discussion Scoliosis is a lateral and rotational curvature of the spine from a plumb line hanging from C7 to the floor. Idiopathic scoliosis is the most common form. A review of scoliosis and its differential diagnosis can be found here. Depending on the age, 2-4% of adolescents have a positive Adams Forward Bend Test when assessed and ~2% may have idiopathic scoliosis of> 10 degrees. Curve progression relates to the magnitude of the curve and the patient’s age. Thus increased risk of progression occurs in patients with higher curvature magnitude at diagnosis, females (earlier start of puberty and therefore poss...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
A 23-year-old man with known neurofibromatosis type 1 (NF1) presented with low back pain described as a "wringing" sensation, with radiation to both legs and painful spasms upon awakening. Examination was significant for reduced reflexes bilaterally. The figure is a coronal T2-weighted MRI revealing extensive plexiform neurofibromas arising from all lumbosacral nerve roots. Neurofibromas appear as high signal intensity on T2-weighted images due to increased fluid in myelin associated with dysplastic glial proliferation.1 In patients with NF1 presenting with back pain or polyradiculopathy, imaging should be obtain...
Source: Neurology - Category: Neurology Authors: Tags: MRI, Peripheral neuropathy, Nerve tumor, Neuropathic pain, Neurofibromatosis RESIDENT AND FELLOW SECTION Source Type: research
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