Malignant peripheral nerve sheath tumour presenting as pathological fracture of proximal femur in neurofibromatosis type-1: a case report with brief literature search. | LitMetric
Neurofibromas, in association with NF-1, can undergo a malignant transformation, giving rise to Malignant peripheral nerve sheath tumours (MPNSTs), a relatively rare entity. Clinically, it presents with non-specific symptoms like pain and numbness, distinguishing it from other nerve lesions difficult. There is a lack of data on the occurrence of MPNST in NF-1 in children and adults, and distant metastasis to the brain and bones is reported only in a few cases. In this case report, we present the unusual presentation of MPNST with metastasis to the proximal femur and liver in a patient with NF-1 and its management. Patients and clinicians should be made aware of the relatively high risk of MPNST in NF-1, which is characterized by pain and rapid growth, and regular follow-up is needed for NF-1 patients for early diagnosis of malignant transformation. So, this case report is presented to enhance the understanding and awareness regarding this rare presentation.
We report a case in which a giant hepatic cyst located at the hepatic hilum and compressing the inferior vena cava was safely treated laparoscopically with careful attention to hemodynamics in a difficult fenestrated resection in a patient with severe kyphosis. The anatomic location of the cyst was evaluated preoperatively via 3D reconstruction of computed tomography images to identify a site where safe fenestrated resection could be performed. This was challenging because the surgical field was narrow due to the presence of severe kyphosis, and there was a risk of damage to surrounding organs during fenestrated resection.
Rowing requires both the upper and lower body to be active for balance, steering, and propulsion, constituting a real challenge for athletes with disabilities. To our knowledge, adapted setups allowing pararowing for people with bilateral transfemoral amputation have not yet been described. This case report describes the adapted setup for Mr S, 24 years old, who underwent bilateral transfemoral amputation in 2019 after a motorcycle accident.
Pituitary macroadenomas are benign neoplasms that can cause a range of symptoms due to a mass effect on surrounding structures. This case report describes a 51-year-old male presenting with progressive bilateral hearing impairment and significant deterioration in speech discrimination over several years. Examination revealed normal tympanic membranes and no neurological deficits, while pure tone audiometry indicated mild to moderate sensorineural hearing loss.
Undifferentiated pleomorphic sarcoma, an exceedingly rare and aggressive primary cardiac tumor arising from mesenchymal stem cells, is associated with poor prognosis and high mortality despite adequate treatment. A 52-year-old female presented with a 2-month history of angina and dyspnea on exertion. Her clinical history included severe acute respiratory syndrome coronavirus 2 myocarditis and iron deficiency anemia.
Waldenström macroglobulinemia is a rare cancer of plasma cells characterized by the excessive production of immunoglobulin M (IgM). IgM-associated systemic amyloid light chain (AL) amyloidosis is a rare complication of Waldenström macroglobulinemia, characterized by the misfolding of lambda light chains that deposit in various organs, including the heart. We describe a case of progressive nonischemic cardiomyopathy secondary to Waldenström macroglobulinemia and IgM-associated AL amyloidosis that was refractory to medical therapy and highlight the challenges in diagnosis and management.
