Refractory insulin resistance and hemophagocytic lymphohistiocytosis following enfortumab vedotin treatment: A case report.

The increasing incidence of urothelial carcinoma, coupled with advancements in its therapeutic landscape, has resulted in improved survival rates for patients. This, in turn, has led to a growing population of patients requiring specialized oncological care, with Enfortumab vedotin (EV) emerging as a pivotal treatment for metastatic urothelial carcinoma. While EV is associated with hyperglycemia, ketoacidosis is exceedingly rare. To the best of our knowledge, the link between EV and hemophagocytic lymphohistiocytosis (HLH) has not yet been explored. A 56-year-old patient diagnosed with metastatic urothelial carcinoma underwent EV treatment as a third-line treatment after progression following treatment with cisplatin/gemcitabine and pembrolizumab. Notably, after receiving two doses of EV, the patient exhibited refractory insulin resistance, leading to ketoacidosis. Subsequently, HLH emerged, necessitating a treatment regimen involving dexamethasone and etoposide. Despite intensive efforts, the patient experienced septic shock, resulting in death. The present case report highlights refractory insulin resistance and ketoacidosis, followed by reactive HLH, in the context of EV therapy. The limited literature on these complications demonstrates the need for further research to improve the understanding of the underlying mechanisms. With growing evidence of the efficacy of EV and evolving survival rates in urothelial carcinoma, healthcare professionals must remain vigilant for potential adverse effects, ensuring early recognition and optimal patient care.

Papillary muscle rupture without severe mitral regurgitation following percutaneous balloon mitral commissurotomy: a case report.

Background: Percutaneous transvenous mitral commissurotomy (PTMC) is the first-line therapy of clinically significant rheumatic mitral stenosis. While the procedure is generally safe, new onset or aggravation of mitral regurgitation (MR) may occur, mainly due to commissural splitting and, less frequently, to leaflet tear and chordal rupture. Papillary muscle rupture (PMR) is exceedingly rare in this setting. Case summary: A 74-year-old woman with a history of aortic valve replacement and prior rheumatic mitral commissurotomy presented for worsening exercise intolerance and exertional dyspnoea. Transthoracic echocardiography showed a mean pressure gradient of 10 mmHg and a mitral valve area of 1.0 cm², consistent with clinically significant mitral stenosis. Subsequent PTMC was complicated by anterolateral PMR. However, the resulting MR was unexpectedly only of mild-to-moderate severity. Because of residual mitral stenosis and persisting symptoms, surgical mechanical mitral valve replacement and tricuspid annuloplasty were performed 6 weeks after PTMC. Papillary muscle rupture was confirmed during surgery. Discussion: We herein describe the occurrence of PMR induced by PTMC; the resulting MR was unexpectedly of mild-to-moderate severity, as a result of extensive rheumatic lesions limiting valve mobility. This case challenges the dogma according to which PMR invariably leads to severe MR. This might not be necessarily the case when it occurs following PTMC.

Spontaneous Periodic Hypothermia with Confirmed Epilepsy: A Report of Two Cases.

Spontaneous periodic hypothermia (SPH) is an exceptionally rare condition characterised by paroxysmal episodes of spontaneous hypothermia. While commonly associated with Shapiro syndrome, which includes SPH, hyperhidrosis and agenesis of the corpus callosum, there are also cases of SPH that do not exhibit these defining characteristics, known as 'Shapiro syndrome variant'. These variants may present with diverse brain imaging findings but no agenesis of the corpus callosum, suggesting different potential aetiologies. Notably, the association of SPH with epilepsy has only been reported in a few cases, and confirming epileptic activity in the context of SPH remains a challenge. In line with this, our report presents two exceptional cases of SPH without significant brain malformation, where we successfully confirmed the presence of epilepsy. The confirmation of epilepsy in these cases is particularly noteworthy, as it adds to the limited documentation of SPH cases with confirmed epilepsy. These findings contribute valuable insights into the association between SPH and epilepsy, enhancing our understanding of this rare condition. Our report also addresses the broader clinical presentations and the physiopathological mechanisms of SPH. By providing comprehensive insights into these aspects, we aim to advance the existing literature and improve our understanding of SPH and its association with epilepsy. LEARNING POINTS: SPH is a rare condition, characterised by paroxysmal episodes of spontaneous hypothermia.A dysregulation of the hypothalamic thermostat is thought to be involved in the pathogenesis.Epilepsy may contribute to the pathogenesis of SPH, potentially by involving the hypothalamus.

Intestinal Pseudo-Obstruction with Life-Threatening Hypokalaemia in a Patient with Adult-Onset Still's Disease.

Adult-onset Still's disease (AOSD) is a rare autoinflammatory disorder that can lead to a cytokine storm, causing a range of symptoms. Acute intestinal pseudo-obstruction is another rare condition that results in intestinal obstruction without anatomical cause. Although the two conditions are rarely reported together, we present the case of a 62-year-old male who developed acute intestinal pseudo-obstruction in the context of an AOSD flare. This led to severe hypokalaemia and a critical condition. Other symptoms included a high-spiking fever lasting for weeks, polyarthralgias and a typical salmon-coloured rash. After ruling out other potential causes, the patient was diagnosed with AOSD. Our findings suggest that the cytokine storm associated with this disease triggered the acute intestinal pseudo-obstruction and life-threatening hypokalaemia, establishing a causal relationship. Only four other cases of AOSD complicated by intestinal pseudo-obstruction have been reported, and this is the first to present with life-threatening hypokalaemia. This case serves as a crucial reminder that, despite being a diagnosis of exclusion, Still's disease should be considered as a potential cause of intestinal pseudo-obstruction, as prompt recognition and treatment of the underlying cause is crucial in managing this potentially life-threatening condition. LEARNING POINTS: Acute intestinal pseudo-obstruction is one of the systemic complications that can occur in autoinflammatory diseases such as AOSD, although it has rarely been described.If AOSD presents with abdominal presentation, such as acute intestinal pseudo-obstruction, then amyloidosis should always be carefully considered.