Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
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J Coll Physicians Surg Pak · Jan 2023
Case ReportsChronic Congenital Diarrhoea Linked to DGAT 1 Mutation.
Chronic diarrhoea causes morbidity and mortality in low-income countries in the paediatric population. There are many causes of chronic diarrhoea, including diacylglycerol o-acyltransferase 1 (DGAT1) deficiency, an enzyme deficiency, caused by the DGAT1 gene mutation, that leads to accumulation of DGAT1 lipid substrates, fatty acids and diacylglycerol, causing vomiting and chronic diarrhoea, and potentially more severe effects. ⋯ However, the DGAT1 gene mutation was positive, prompting management through dietary fat control. Key Words: DGAT1 deficiency, DGAT1 gene mutation, Chronic diarrhoea.
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J Coll Physicians Surg Pak · Jan 2023
Case ReportsClinicopathological Features of Patients with Anti-NMDA Receptor Encephalitis: Experience from a Tertiary Care Centre in Pakistan.
Anti-N-Methyl-D-Aspartate Receptor (NMDAR) antibody encephalitis is a potentially lethal form of autoimmune encephalitis in which auto-antibody production occurs against the NMDAR, NR1 subunit, causing massive dysregulation of neuro-transmission. This syndrome is often paraneoplastic (ovarian teratomas) having a male-to-female ratio of 1:4 and most often manifests with neuropsychiatric signs and symptoms, including hallucinations, memory loss, and diminished conscious level leading to death. ⋯ All three patients had a prodrome of fever, abnormal psychiatric behaviour, decreased consciousness level, speech dysfunction, and autonomic instability; however, seizures and movement disorders were only present in two patients. Key Words: Anti-NMDAR antibody, Anti-NMDAR encephalitis, Autoimmune encephalitis.
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J Coll Physicians Surg Pak · Jan 2023
Case ReportsHashimoto's Encephalopathy Presenting with Status Epilepticus and Mental Disorder as the Main Manifestations.
Hashimotos encephalopathy (HE) is an uncommon disease. It is easily misdiagnosed as many clinicians have an insufficient understanding of it. The clinical presentation, auxiliary examination, diagnosis, and treatment of a patient with HE were retrospectively analysed, and the relevant literature was reviewed and summarised. ⋯ Most patients have a good prognosis but early investigation of thyroid function and antibodies is imperative for an early and accurate diagnosis. An early treatment can greatly improve patient prognosis. Key Words: Status epilepticus, Hashimotos encephalopathy, Autoimmune disease, Mental disorder.
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J Coll Physicians Surg Pak · Jan 2023
Case ReportsAbdominal Wall Abscess Secondary to Spilled Gallstones 20 Years after Laparoscopic Cholecystectomy.
This case report describes an intra-abdominal and abdominal wall abscess formation in a 53-year male. The abscess developed 20 years after an uncomplicated laparoscopic cholecystectomy. He presented to multiple clinics with complaints of abdominal swelling and pain and had been prescribed multiple courses of antibiotics in the preceding six months before a definitive diagnosis was made. ⋯ Early postoperative complications including abscess formation usually come to attention; however, the importance of late complications should not be undervalued, especially when an abscess develops in a patient with a history of recent or remote cholecystectomy. Thorough investigation, consideration of possible diagnosis related to abscess formation post-cholecystectomy, and timely action is the key to management. Key Words: Abdominal wall abscess, Laparoscopic cholecystectomy, Complications, Retained gallstones.
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J Coll Physicians Surg Pak · Jan 2023
Case ReportsOmphalomesenteric Duct Fistula: A Rare Manifestation of Omphalomesenteric Duct Anomalies.
Omphalomesenteric duct (OMD) anomalies occur as a result of resorption failure during gestation. Various forms of OMD anomalies are documented depending upon the degree of resorption (complete or partial) including Meckels diverticulum, fistulas, fibrous bands, and cysts to umbilical polyps. Among these, Meckels diverticulum is the most common of these anomalies, and omphalomesenteric duct fistula (OMF) is the most rare. ⋯ We report a rare case of a 10-day male neonate who presented with umbilical swelling and discharge. This case is presented to highlight the occurrence of this extremely rare phenotype to raise a high index of suspicion and awareness among healthcare providers. Key Words: Omphalomesenteric duct fistula, Umbilical swelling, Sinogram.