MTO1-related mitochondrial disease (Combined Oxidative Phosphorylation Deficiency type 10, COXPD10; OMIM #614702) is a rare autosomal recessive disorder caused by biallelic variants in the nuclear MTO1 gene, which encodes an enzyme that modifies mitochondrial transfer RNA so that mitochondria can synthesise their proteins correctly. It typically presents in infancy with lactic acidosis and hypertrophic cardiomyopathy and, in longer-surviving children, evolves into a multisystem disorder with intellectual disability, epilepsy and optic neuropathy, a pattern termed ONCE syndrome (Optic Neuropathy, Cardiomyopathy, Encephalopathy with lactic acidosis and combined OXPHOS deficiency). We report a 12-year-old girl, the third child of consanguineous parents, with global psychomotor delay and persistent mild hyperlactataemia from infancy. Brain imaging showed symmetric T2 hyperintensity in both dentate nuclei with a cerebral lactate peak on MR spectroscopy. Whole-exome sequencing identified a homozygous MTO1 missense variant (c.1402G>A; p.Ala468Thr), consistent with the molecular diagnosis of COXPD10, with both parents heterozygous carriers; an incidental heterozygous FBN1 variant (p.Arg609Cys) was classified as a variant of uncertain significance and judged unrelated. She developed myoclonic epilepsy at age 11, managed with lamotrigine, while echocardiography and ophthalmological examination remained normal at age 12. We review the molecular pathogenesis, genotype-phenotype correlations and treatment options for MTO1 deficiency, focusing on dichloroacetate as adjunctive therapy for lactic acidosis and cardiomyopathy, and place the case alongside the 2025 FDA approval of elamipretide for Barth syndrome and emerging gene-therapy approaches. Early genetic diagnosis and structured cardiac and ophthalmological surveillance are essential; prospective studies of dichloroacetate are needed.

Circumcision, a commonly performed procedure in the neonatal period, is the surgical removal of the prepuce. The complications of male circumcision are common, but post circumcision penile shaft fibromas are rare and there is paucity of cases reported in literature worldwide. A 4-year-old boy presented with distal penile shaft swelling that encircled the penis along the circumcision scar that was noticed few months after circumcision. He had no history of trauma apart from the circumcision he had at the neonatal period and a clinical diagnosis of penile shaft fibroma was made. The swelling was excised under general anaesthesia and sent for histopathological confirmation. This case is reported to draw clinicians’ attention to this rare post circumcision complication.

Sinus node disease (SND) is a leading indication for permanent pacemaker implantation and is classically attributed to age-related degenerative changes. Nevertheless, functional conditions may result in similar clinical and electrocardiographic presentations, particularly in atypical cases. Extra-cardiac thoracic masses causing cardiac compression are rare and often underrecognized. We report the case of a patient presenting with a tachycardia-bradycardia syndrome initially suggestive of SND, in whom a comprehensive etiological evaluation revealed an esophageal tumor causing significant left atrial compression. This unusual presentation highlights the importance of considering extracardiac structural abnormalities in the differential diagnosis of apparent sinus node dysfunction.

Background: Anaemia is a common and clinically significant complication of chronic kidney disease (CKD) that contributes to cardiovascular morbidity and accelerated disease progression. Diabetes mellitus (DM), a leading cause of CKD has been independently associated with a higher prevalence and greater severity of anaemia. Objective: To compare the prevalence and severity of anaemia between diabetic and non-diabetic CKD patients and to identify independent predictors of moderate-to-severe anaemia in this population. Methods: This comparative cross-sectional study was conducted in the Department of Nephrology, Tangail Medical College and Hospital, Tangail, Bangladesh, from June 2024 to May 2025. A total of 348 patients with CKD were enrolled, including 174 diabetic CKD patients and 174 age- and sex-comparable non-diabetic CKD patients. Anaemia was defined according to World Health Organization (WHO) sex-specific hemoglobin (Hb) cut-offs (<13 g/dL in males and <12 g/dL in females) and further classified as mild, moderate or severe. Data were analyzed and compared by statistical tests. Results: Diabetic CKD patients were significantly older (59.2±10.2 versus 55.8±11.7 years; p= 0.005) and had a more advanced CKD stage distribution (56.9% versus 42.5% in Stage 4-5; p<0.001). Mean hemoglobin was significantly lower in the diabetic group (10.04±1.89 versus 11.16±2.04 g/dL; p<0.001), and anaemia was significantly more prevalent (87.4% versus 71.3%; p<0.001), with a significant shift toward moderate-to-severe grades (48.9% versus 27.6%; p<0.001). Diabetic status remained an independent predictor of moderate-to-severe anaemia after adjustment for CKD stage, age and disease duration [adjusted odds ratio (AOR) 2.24, 95% CI 1.36–3.68; p= 00.001], with CKD Stage 4-5 the strongest predictor (AOR 6.32, 95% CI 3.81–10.48; p<0.001). Conclusion: Diabetic CKD patients demonstrated significantly higher prevalence and severity of anaemia than non-diabetic CKD patients, which is independent of CKD stages. Routine, regular hemoglobin screening should be incorporated into the clinical management of diabetic CKD patients.

Background and Clinical Significance: Low NIHSS strokes with large vessel occlusion (LVO) may initially appear benign despite a substantial risk of early neurological deterioration (END). Nearly one-quarter of patients with mild ischemic stroke have underlying LVO. The role of reperfusion therapies in this setting remains controversial, making therapeutic decision making particularly challenging. Case Presentation: A 41-year-old woman presented with acute left hemiparesis upon awakening. Initial neurological examination revealed a National Institutes of Health Stroke Scale (NIHSS) score of 6. CT angiography demonstrated M1 occlusion of the right middle cerebral artery (MCA). However, complete spontaneous resolution of the neurological deficits occurred within minutes, resulting in an NIHSS score of 0. MRI performed 6.5 hours after symptom discovery revealed a small right insular infarction with persistent distal M1 occlusion. Cardiac investigations revealed atrial fibrillation associated with severe rheumatic mitral stenosis. Considering the complete clinical recovery and uncertain benefit-risk balance of reperfusion therapy, conservative management with early anticoagulation was chosen. The patient was discharged with a modified Rankin Scale (mRS) score of 1, which remained stable at 3-month follow-up. Conclusion: Minor strokes associated with LVO remain a major therapeutic dilemma because the indication for reperfusion therapy remains debated. Current evidence suggests that management should be individualized and guided by clinical presentation, advanced imaging findings, and predictive markers of early neurological deterioration.

Capsule retention is a rare but clinically significant complication of video capsule endoscopy (VCE), particularly in patients with refractory celiac disease. We report the case of a 42-year-old man with type II refractory celiac disease who developed jejunal capsule retention after VCE despite a negative magnetic resonance enterography (MRE). Conservative treatment with prednisone and laxatives resulted in spontaneous capsule passage after 30 days, avoiding endoscopic or surgical retrieval. This case highlights the importance of careful patient selection, pre-procedural risk assessment, and individualized management of capsule retention in inflammatory small bowel disease.