Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
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J Coll Physicians Surg Pak · Dec 2022
Case ReportsPompe Disease Complicated with Appendicular Torsion: A Rare Concurrence.
Pompe disease, also known as Glycogen Storage Disease Type II, is a rare disorder of glucose metabolism caused by congenital acid alpha-glucosidase (GAA) deficiency. A large amount of glycogen accumulates in the lysosomes, causing these to swell and rupture. Its incidence is about 1 in 40,000 to 1 in 50,000 newborns. ⋯ Once the clinical symptoms worsen, most of them die within a short period. Therefore, screening for neonatal genetic metabolic diseases for early diagnosis and treatment should be carried out. Key Words: Glycogen storage disease type II, Metabolic disease, Enzyme replacement therapy, Neonatal screening.
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J Coll Physicians Surg Pak · Dec 2022
Case ReportsPrimary Hepatic Angiosarcoma: A Rare and Very Aggressive Liver Tumour.
Primary hepatic angiosarcoma (PHA) is a sporadic and aggressive tumour of the liver that originates from mesenchymal cells and represents less than 2% of all primary liver tumours. It is known to be associated with several environmental and industrial carcinogens; however, in 75% of cases, aetiology remains unclear. Patients generally present with nonspecific symptoms and laboratory findings. ⋯ Three months later, MRI depicted a substantial increase in the lesion size measured 8.5 cm. An ultrasound-guided tru-cut biopsy was performed, and the diagnosis of PHA was confirmed by pathology. In this report, we aim to highlight PHA's MRI features and underline this rare entity's rapid and fatal progression.
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J Coll Physicians Surg Pak · Dec 2022
Use of Bilateral Superficial Cervical Plexus Block for Excision of Thyroglossal Duct Cyst in an ASA III Patient.
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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 ReportsRenal Clear Cell Carcinoma with Unknown Primary: Is It Real Entity or Just Hypothesis?
Renal cell carcinoma (RCC) is a common type of cancer, and about 25% of patients are diagnosed at an advanced stage. Bone metastasis is common in RCC, but instances of bone metastases without a primary kidney tumour have rarely been reported. Here, we report a case of a 56-year male patient who presented with extensive bone metastases. ⋯ In the literature, primary unrecognised RCC cases are found only as case reports. This case highlights the importance of clinicians' consideration of possible metastatic RCC in a patient with pathologically diagnosed clear cell carcinoma, even if no primary renal tumour is identified. Key Words: Renal cell carcinoma, İmmunohistochemistry, Diagnosis, Kidney, Cancer.