Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
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J Coll Physicians Surg Pak · Dec 2022
Case ReportsAdult Vanishing White Matter Disease with a Novel EIF2B4 Mutation.
Vanishing white matter disease (VWMD) is an autosomal recessive genetic disease characterised by progressive loss of white matter in both cerebral hemispheres. VWMD is caused by mutations in eukaryotic translation initiation factor 2B (EIF2B). The disease typically occurs in children. ⋯ To our knowledge, this is a novel mutation and has not been reported till date. This report extends the mutation spectrum and phenotypic heterogeneity of VWMD. Key Words: Vanishing White matter, EIF2B, Primary ovarian insufficiency.
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J Coll Physicians Surg Pak · Dec 2022
Case ReportsDisseminated Nocardiosis with Ocular Involvement in a Patient with Anca-associated Vasculitis.
A 62-year male patient, diagnosed with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV), developed proptosis and decrease in visual acuity while on rituximab treatment. As the ophthalmological examination and imaging studies could not exclude tumour of the orbit, enucleation of the orbit was performed. The histopathology displayed necrosis and inflammation. ⋯ Despite efficient antimicrobial therapy, the disease progressed rapidly causing death. This case is unique as it describes disseminated nocardiosis with ocular and cerebral involvement in an AVV patient. Key Words: Immunosuppression, Nocardiosis, ANCA-associated vasculitis, Proptosis.
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J Coll Physicians Surg Pak · Dec 2022
Case ReportsSelf-Insertion of Newspaper into Bladder: An Unusual Case of Foreign Body.
Foreign bodies are most frequently observed in the bladder among the genitourinary organs. Many different foreign bodies such as needles, wires, Foley's catheter fragments, and magnetic balls have been observed in the bladder previously. In the present case, a 50-year male patient presented to the hospital with fever and acute urinary retention. ⋯ Such a case has never been observed previously in the literature. An 8-cm rolled piece of newspaper was detected in the bladder using a cystoscope and was removed with open surgery. Key Words: Bladder, Foreign body, Newspaper.
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A uterocutaneous fistula is a rare condition with a few reports in the literature. A 29-year female presented to our department with infected discharge at her previous Pfannenstiel incision. She was P3+1 with her last hysterotomy 16 months back due to previous two cesarean sections and missed miscarriage at 24 weeks of gestational amenorrhea. ⋯ Her laparotomy was done. The fistulous tract was removed and uterus was repaired successfully. Key Words: Fistula, Uterus, Hysterotomy.
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J Coll Physicians Surg Pak · Dec 2022
Case ReportsCentral Pancreatectomy for Solid Pseudopapillary Tumour of Pancreas in A 13-Year Girl.
Solid Pseudopapillary Tumour (SPT) is a very rare tumour of the pancreas. A 13-year girl presented to us with the complaint of upper abdominal pain and non-bilious vomiting for 15 days. Preoperative diagnosis of SPT involving the body of the pancreas was made by CT scan and ultrasound- guided Trucut biopsy. ⋯ This procedure offers excellent results in benign and low-grade malignant pancreatic neck and body tumours. In addition, it preserves functional elements of the pancreas and also eliminates the infective and haematological effects of splenectomy. Key Words: Solid pseudopapillary tumour, Central pancreatectomy, Pancreatic tumours.