Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
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J Coll Physicians Surg Pak · Dec 2022
Case ReportsHuge Primary Intermediate-grade Myofibroblastic Sarcoma in the Retroperitoneum.
Myofibroblastic sarcoma is exceedingly rare, with low-grade features in most cases, and rarely involves the retroperitoneum. The 2020 World Health Organization (WHO) classification of soft tissue tumours still lists only low-grade myofibroblastic sarcoma and shows no consensus on the definitions of high- and intermediate-grade myofibroblastic sarcomas, in contrast to the 2013 WHO classification. ⋯ We describe a patient with intermediate-grade myofibroblastic sarcoma in the retroperitoneum, who underwent en bloc resection and ureteroplasty without adjuvant therapy and was free of pain and any other discomfort during 19 months of follow-up. Key Words: Myofibroblastic sarcoma, Intermediate grade, Retroperitoneum, Surgery.
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J Coll Physicians Surg Pak · Dec 2022
Case ReportsNovel Mutation of Hydroxymethylbilane Synthase in a Case of Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome.
Acute intermittent porphyria (AIP) is an autosomal, dominant, hereditary metabolic disease caused by an inherited deficiency of hydroxymethylbilane synthase (HMBS), a crucial enzyme in the heme biosynthetic pathway. It can affect the central, peripheral, and autonomic nervous systems. We report a 23-year Chinese woman who presented with severe abdominal pain, convulsions, constipation, tachycardia, quadriparesis, and hyponatremia, accompanied by posterior reversible encephalopathy syndrome (PRES). ⋯ I336Hfs*23)] of the HMBS in her genomic DNA. Timely and accurate treatment of AIP may improve disease prognosis. Key Words: Acute intermittent porphyria, Mutation, Posterior reversible encephalopathy syndrome.
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J Coll Physicians Surg Pak · Dec 2022
Case ReportsNecrotizing Fasciitis Associated with Hailey-Hailey Disease: A Rare Case.
Necrotizing fasciitis (NF) is a rare and life-threatening infection of soft tissue characterised by rapid and extensive destruction of the skin, subcutaneous fat, and fascia. Early diagnosis of NF is challenging, and it can be very difficult to distinguish NF from other infectious diseases of skin and subcutaneous tissue. ⋯ Clinicians should be alert to signs and symptoms of NF in HHD and other skin diseases with damaged skin barrier function such as pemphigus, pemphigoid, and all kinds of ulcers, especially in diabetic and immunosuppressed patients. Key Words: Necrotizing fasciitis, Genodermatosis, Hailey-Hailey disease.
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J Coll Physicians Surg Pak · Dec 2022
Case ReportsSpontaneous Cervical Epidural Abscess Caused by Serratia Marcescens.
Serratia marcescens infections are very rare and usually occur in the form of nosocomial and opportunistic infections. The subjects usually have severe medical comorbidities such as immunosuppression, diabetes mellitus, and renal failure. Spontaneous Serratia marcescens infection is very rare. ⋯ The abscess that created a cervical mass effect was totally removed and treatment with oral antibiotics was continued due to S. marcescens growth in the culture. This is the first case where S. marcescens has caused the development of a cervical epidural abscess in a patient without any medical comorbidity. Key Words: Serratia marcescens, Spinal epidural abscess, Vertebral osteomyelitis, Cervical discitis.
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J Coll Physicians Surg Pak · Dec 2022
Case ReportsThymic Seminoma with Regressive Changes Obscured by Granulomatous Reaction.
Primary thymic seminoma is an exceedingly rare tumour. There are few case reports about mediastinal thymic seminoma accompanied by secondary changes. We report a case of a 29-year male admitted to our hospital because of chest pain and dyspnea for 8 months. ⋯ High level of suspicion is necessary to identify seminomas in a thymic lesion accompanied by secondary changes. Excluding the possibility of metastasis from testicular seminoma is very important before making this diagnosis. Key Words: Thymus, Seminoma, Granuloma, Calcification, Cyst.