Lafora Disease Masquerading as Hepatic Dysfunction.

Lafora disease is fatal intractable progressive myoclonic epilepsy. It is frequently characterized by epileptic seizures, difficulty walking, muscle spasms, and dementia in late childhood or adolescence. We chronicle here an unusual case of an asymptomatic young male soccer player who presented with elevated liver enzymes. Neurological examination was unremarkable. The diagnostic workup for hepatitis, infectious etiologies, autoimmune disorders, hemochromatosis, Wilson's disease, alpha-1 antitrypsin deficiency, and other related diseases was inconclusive. He subsequently underwent an uneventful percutaneous liver biopsy. Based on the pathognomonic histopathological findings, Lafora disease was considered the likely etiology. The present study is a unique illustration of this rare disorder initially manifesting with abnormal liver enzymes. It underscores the importance of clinical suspicion of Lafora disease in cases with unexplained hepatic dysfunction. Prompt liver biopsy and genetic testing should be performed to antedate the onset of symptoms in these patients.

Primary Gastrointestinal Diffuse Large B-cell Lymphoma.

Primary gastrointestinal lymphoma is a rare neoplasm that accounts for less than 5% of all gastrointestinal malignancies. We present a case of a 37-year-old woman positive for human immunodeficiency virus who presented with abdominal pain and vomiting for three months. She underwent endoscopic biopsy and was found to have high-grade diffuse large B-cell lymphoma in the jejunum. This report discusses her treatments and includes a brief literature review highlighting the rarity of this entity, the etiological agents implicated in its pathogenesis, and the lack of specific guidelines for treatment.

Endoscopic Removal of Large Sharp-edged Foreign Bodies in the Gastrointestinal Tract Using an Innovative Modification of the Overtube.

Foreign body ingestion is commonly encountered in clinical practice. According to standard guidelines, urgent therapeutic endoscopy should be performed in cases involving sharp objects to prevent complications. Although several extraction methods are available, few cases may still pose a therapeutic challenge. This report describes a novel endoscopic technique utilizing modification of the standard overtube to facilitate the removal of a large razor blade. This technique offers a minimally invasive approach for rapid retrieval of large sharp-edged foreign bodies, obviating the need for a surgical exploration. Additionally, this article compares various imaging modalities for prompt detection of gastrointestinal foreign bodies to avoid unnecessary delays in endoscopic intervention.