Teen whose facial tumour has left her blind has become a recluse

The growth has left Salibunnisa, 18, from the north Indian state of Madhya Pradesh, lind in one eye, as well as in excruciating pain every day. She suffers from neurofibromatosis.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

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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
Nerve sheath tumors of the upper extremity are among the common neoplastic pathologies encountered by hand surgeons. A majority of these tumors are benign schwannomas or neurofibromas and may be associated with neurofibromatosis. Clinical signs of malignant transformation include new onset of pain and rapid growth. Imaging characteristics, such as standardized uptake value greater than 4.0 on PET scan, may aid in the diagnosis of a malignant tumor. Surgical excision, often with intrafascicular dissection with nerve preservation, is recommended treatment of benign lesions. Wide surgical excision is recommended for malignant lesions.
Source: Clinics in Plastic Surgery - Category: Cosmetic Surgery Authors: Source Type: research
Gingival enlargement, although frequently encountered in clinical settings, is rarely associated with systemic diseases or syndromes. Among the diverse pathological conditions of neurofibromatosis type 1 (NF-1), minor manifestations in the orofacial region are occasionally overlooked. Herein, the authors present an unusual case of gingival neurofibroma in a patient with NF-1 associated with characteristic osseous defects in the alveolus in the long-term course of 17 years from the first examination. A 5-year-old boy with NF-1 was referred for the evaluation of gingival enlargement in the posterior left maxilla. An incisal...
Source: Journal of Craniofacial Surgery - Category: Surgery Tags: Brief Clinical Studies Source Type: research
Neurofibromatosis type 1 (NF1) is the most common of a group of rare diseases known by the term, “Neurofibromatosis,” affecting 1 in 3000 to 4000 people. NF1 patients present with, among other disease complications, café au lait patches, skin fold freckling, Lisch nodules, orthopedic complications, cutaneous neurofibromas, malignant peripheral nerve sheath tumors, cognitive impairment, and chronic pain. Although NF1 patients inevitably express pain as a debilitating symptom of the disease, not much is known about its manifestation in the NF1 disease, with most current information coming from sporadic cas...
Source: Pain - Category: Anesthesiology Tags: Narrative Review Source Type: research
Conclusions: To our knowledge, this is the first study to investigate VS-related tinnitus with respect to both patients' hearing status and psychological condition. Our results suggest that tinnitus distress strongly affects VS patients' QoL and that its characteristics are similar to primary tinnitus. An intervention for VS-related tinnitus, therefore, should assess to what extent tinnitus bothers patients, and it should reduce any unpleasant emotions that may exacerbate symptoms. This approach should improve their QoL. Introduction Vestibular schwannoma (VS)—or acoustic neuroma—is a be...
Source: Frontiers in Neurology - Category: Neurology 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
50 yr old lady presents for CEMRI with abdominal wall mass in USG with no history of trauma / fever / surgery.CEMRI shows – Large intense&heterogeneously enhancing altered signal intensity space occupying lesion involving left anterior parietes of abdominal wall extending from supraumbilical to pelvic region with areas of necrosis/ restricted diffusion /predominantly edematous signal components /rectus abdominis not separately identified / properitoneal fat stranding with no intraperitoneal extension / across midline /no definite skin ulceration /regional lymphadenopathy / air /MR demonstrable calcification ...
Source: Sumer's Radiology Site - Category: Radiology Authors: Source Type: blogs
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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