Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
-
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.
-
J Coll Physicians Surg Pak · Aug 2022
Case ReportsThe Case with Short Stature and Intellectual Disability Caused by a Novel 2q12 Duplication.
Copy number variation (CNV) is a kind of malfunction of DNA polymerase to produce extra genetic material which leads to more number of repeats in genes. The CNVs have been associated with different clinical phenotypes such as learning disabilities, short stature, and intellectual disability. The chromosomal microarray analysis is an effective diagnostic method for identifying new CNVs and understanding their clinical effects. ⋯ This case report will contribute to increasing the knowledge. The CNV (arr [hg19] 2q12.1q12.3 (103,368,824-107,946,062) x3) detected in the index case was also detected in her father and male sibling. Key Words: DNA, Copy number variation, Chromosomal duplication, Intellectual disabilities.
-
J Coll Physicians Surg Pak · Aug 2022
Comparison of Weekly Low Dose Docetaxel with the Standard Protocol in Hormone-resistant Metastatic Prostate Cancer.
To evaluate and compare the effects and toxicity of weekly low dose with three weekly standard doses of docetaxel in hormone-resistant metastatic prostate cancer. ⋯ Metastatic prostate cancer, Hormone resistant prostate cancer, Weekly docetaxel.
-
Null.
-
J Coll Physicians Surg Pak · Aug 2022
Case ReportsDuodenal Ulcer Perforatıon after Actıvated Charcoal Treatment.
Activated charcoal, having the capacity to absorb substances with its porous surface, has been used in intoxication treatment for nearly 200 years. Although live-saving, occasionally, it can lead to complications. Because of the risk of perforation during activated charcoal therapy, the integrity of the gastrointestinal tract should be checked after the procedure. ⋯ The present case constitutes the first report of duodenal ulcer perforation after activated charcoal therapy. It should be remembered that activated charcoal, which is widely used in intoxication treatment, may cause gastrointestinal system perforation, peritonitis, adhesion, abscess formation, organ loss within the abdomen, and prolonged hospitalization. Key Words: Activated charcoal, Intoxication, Duodenal ulcer perforation.