Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
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Lafora body disease (LBD) is a progressive myoclonic genetic epilepsy syndrome characterized by the presence of Lafora inclusion bodies within neurons and other cells. It is a complex neurodegenerative disease presenting in adolescence with seizures, myoclonus, and rapid cognitive decline. Diagnosis is often challenging requiring a thorough history including family history, identification of Lafora bodies in apocrine sweat glands of axillary skin, and specific DNA sequencing. ⋯ We present one of the only few cases from Pakistan of LBD based on characteristic biopsy findings, history of similar ailment in siblings, and EPM2B mutation. This case emphasizes the need for physicians and neurologists to be aware of diagnostic challenges associated with LBD and its characteristic findings. Key Words: Lafora body, Progressive epilepsy, Myoclonus, Axillary skin biopsy, EPM2B.
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J Coll Physicians Surg Pak · Aug 2022
Case ReportsA Rare Case of Female Bladder Outlet Obstruction: Severe Introital Stenosis.
Herein, we report a rare case of severe introital stenosis in a 22-year female who presented with obstructive voiding symptoms and inability to have sexual intercourse. Introital stenosis had been caused by the emergency primary closure after major vulvoperineal trauma 15 years ago. To our knowledge, this is the first case report in the literature that describes a very long time from primary closure to dilation and reconstruction. ⋯ Our technique was effective and did not lead to any complications. The sexual dysfunction and voiding complaints of the patient completely resolved within a post-operative period of 11 months. Key Words: Introital stenosis, Bladder outlet obstruction, Dilation, Female, Reconstruction.
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J Coll Physicians Surg Pak · Aug 2022
Case ReportsImpact of Intragastric Balloon: A Rare Complication.
Non-surgical interventions for weight loss are being used more commonly and one of the emerging endoscopic bariatric therapies is the insertion of Intragastric Balloons (IGBs). A 58-year Pakistani female, presented with vomiting and abdominal bloating for 2 weeks. The balloon was impacted at the antrum and pylorus while the external pigtail catheter and blue clasp for retrieval were extending into D1/D2. ⋯ We report a rare case of antral impaction, followed by safe removal of the impacted Spatz IGB. Regular follow-ups are necessary to avoid serious complications of IGB insertion. Key Words: Intragastric balloon, Impaction, Obesity, Safe retrieval, Weight-loss.
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J Coll Physicians Surg Pak · Aug 2022
Case ReportsCutaneous T-cell Lymphoma Predisposing to Recurrent Infective Endocarditis by Methicillin-resistant Staphylococcus Aureus (MRSA) in a Patient with Intracardiac Defibrillator (ICD).
Cutaneous T-cell lymphoma (CTCL) is a rare group of extra-nodal non-Hodgkin's lymphomas resulting in infiltration of the skin by the malignant cells. Sézary syndrome (SS) and mycosis fungoides (MF) are the most common subtypes, and infectious complications are the major cause of death in such patients. ⋯ Herein, we report a unique case of non-ischemic cardiomyopathy with an implantable cardiac defibrillator (ICD), who later developed CTCL, complicated by the recurrent right-sided IE which is caused by MRSA. Key Words: Cutaneous T-cell lymphoma, Methicillin-resistant staphylococcus aureus (MRSA), Infective endocarditis.
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J Coll Physicians Surg Pak · Aug 2022
Case ReportsSolid Renal Mass in a Transplanted Allograft Kidney: Mucinous Tubular and Spindle Cell Renal Cell Carcinoma.
Renal transplantation is the main treatment for end-stage kidney disease. Transplantation reduces the mortality rate and increases life quality in this population but cancer in allograft kidney is a major problem. Here, we report a 39-year male who had renal transplantation 10 years ago. ⋯ After partial nephrectomy, histopathologic examination revealed mucinous tubular and spindle cell variant of renal cell carcinoma(MTSCC). To our best knowledge, this is the first case in the literature that underwent partial nephrectomy in the transplanted kidney and was diagnosed with MTSCC. Key Words: Renal mass, Mucinous tubular and spindle cell tumor, Kidney transplantation.