Clinical Case Reports最新文献

Often discovered at late stages, scalp melanoma presents unique diagnostic difficulties. Timely detection via public awareness, education, and comprehensive clinical assessment is essential for survival rate improvement. This case report shows the significance of multidisciplinary care and targeted therapies which can achieve remission even in metastatic cases.

Spontaneous perirenal hemorrhage (SPH) and spontaneous renal rupture (SRR) are rare emergencies that can be radiologically indistinguishable when hematomas are large, especially in hemodialysis patients. We report a 53-year-old man on long-term hemodialysis who developed acute left flank pain 19 h after low-molecular-weight heparin. Contrast-enhanced CT suggested SRR without tumor. Urgent angiography revealed no active extravasation; empiric selective renal artery embolization was performed, but pain and anemia progressed (hemoglobin nadir 54 g/L), prompting emergency nephrectomy. Gross and microscopic pathology demonstrated an intact renal capsule with hemorrhage confined to perirenal fat and no neoplasm, cyst rupture, aneurysm, or vasculitis, confirming SPH. Uremia-associated vasculopathy and repeated anticoagulation likely increased vascular fragility; bleeding from perirenal fat with collateral supply (lumbar, adrenal, gonadal arteries) may explain embolization failure. Postoperatively, dialysis anticoagulation was temporarily switched to nafamostat mesylate and later safely resumed with low-molecular-weight heparin; at approximately 7 months after surgery, hemoglobin was 109 g/L with no recurrence. This case underscores the limits of CT specificity in large hematomas, the need to consider extracapsular bleeding when embolization fails, the role of pathology for definitive diagnosis, and the importance of early surgical exploration and individualized anticoagulation in hemodialysis patients.

Transient liver steatosis is rarely described. A fast development of liver steatosis leading to acute liver failure (ALF) is, to our knowledge, rarely observed. It is so far observed and published in acute fatty liver of pregnancy, and in a few cases of ALF. However, it is observed in elective surgery for pancreaticoduodenectomy and some cases of cytostatic treatment, without subsequent development of ALF. Paracetamol toxicity within the maximum daily allowed dosage (and only a few days of paracetamol administration) prior to the development of ALF has been described in eight patients with neuromuscular disease (NMD). These patients carried genotypes consistent with altered drug metabolism, possibly changing the hepatic disposition of paracetamol. In this report, we describe a patient case of limb-girdle muscular dystrophy, a subgroup of the NMD, that developed acute liver steatosis within 30 h and subsequently ALF. A 36-year-old white woman was electively admitted for a surgical diversion with an end-colostomy due to chronic constipation. Postoperatively, she was exposed to different factors potentially affecting liver function (multiple hits against the liver), such as paracetamol administration in maximal daily allowed dose, a hypotensive event, and a redo surgery due to perforated colon on postoperative Day 21. Subsequently, she developed severe ALF three days later. The patient responded to standard medical treatment for ALF and was discharged 2 months after the initial hospital admission. Pharmacogenetic analyses indicated a change in paracetamol metabolism towards increased level of toxic metabolite. Six months after the admission, both CT and MR scans showed complete regression of the liver steatosis; this was in addition confirmed with normal liver elastography. To our knowledge, this is the first reported clinical observation of a transient acute liver steatosis with complete regression to normal liver function and morphology. Moreover, it is of great importance to early recognize the development of acute steatosis since it is one of multiple liver hits that predisposes these patients to develop ALF. The importance of pharmacogenetics for risk in paracetamol-induced liver toxicity should be further investigated.

Olanzapine, an atypical antipsychotic widely used for psychiatric disorders, is typically associated with tachycardia and QT prolongation in overdose, while bradycardia remains a rare and underrecognized effect. We report a 20-year-old woman with major depressive disorder who presented 4 h after ingesting 100 mg of olanzapine in a suicide attempt. She exhibited marked sinus bradycardia (41 bpm) with stable hemodynamics and no QT prolongation. Laboratory and toxicology results were unremarkable. Supportive care, including oxygen, fluids, and cardiac monitoring, led to complete recovery within 48 h. This case highlights isolated bradycardia as an uncommon but important manifestation of olanzapine toxicity. Clinicians should consider bradycardia in the cardiovascular spectrum of olanzapine overdose and ensure vigilant monitoring to prevent potential complications.

In managing atherosclerotic cardiovascular disease, especially after percutaneous coronary intervention (PCI), dual antiplatelet therapy (DAPT), prominently aspirin and a P2Y12 inhibitor, is fundamental. Nonetheless, aspirin hypersensitivity complicates treatment for some patients. Desensitization processes have been identified as a viable method to circumvent this issue. This case report describes a 75-year-old man diagnosed with significant stenosis in the coronary artery who was scheduled for elective PCI of the right coronary artery. The patient's medical record noted a hypersensitivity to aspirin. Initially, the patient underwent successful desensitization to aspirin, allowing for treatment with aspirin and Clopidogrel. However, the need for another desensitization emerged months later, which unfortunately was unsuccessful. As a result, the patient's treatment was shifted to Ticagrelor monotherapy, a potent antiplatelet strategy, which was carried out without any complications during the follow-up period.

Postoperative bleeding is a well-known complication of tonsillectomy. Although inadequate hemostasis and vascular injury are common causes, occult coagulation disorders may also contribute. Factor XIII deficiency is an extremely rare condition that is particularly difficult to detect preoperatively because PT and APTT typically remain normal. A 27-year-old man underwent bilateral tonsillectomy for a recurrent peritonsillar abscess. Despite normal coagulation screening, the patient developed repeated postoperative hemorrhages requiring surgical management. Further evaluation revealed reduced Factor XIII activity (36%). After Factor XIII concentrate administration, bleeding ceased, and the postoperative course stabilized. Factor XIII deficiency should be considered in patients with recurrent postoperative bleeding despite normal routine coagulation tests. Early recognition and timely replacement therapy may prevent severe complications.

Harlequin ichthyosis (HI) is an uncommon and extremely severe hereditary condition that primarily affects the skin. Infants born with this disorder display dense skin and prominent diamond-shaped plates that cover a significant portion of their bodies. Infants with this disease have difficulty regulating body temperature and maintaining hydration, leading to respiratory failure and feeding problems, making them more vulnerable to infections. Most patients die shortly after birth because of these clinical symptoms. Scientific evidence has shown that a mutation in the ABCA12 gene is the principal underlying cause of HI. Using whole-exome sequencing, we identified a novel mutation in an Iranian infant with HI. This case presented with characteristic cutaneous manifestations, leading to the discovery of a novel homozygous mutation in the ABCA12 gene. This specific mutation [c.4702_4706del, p.(Leu1568IlefsTer5)] has not been reported in any other cases of harlequin ichthyosis and was detected in a heterozygous state in asymptomatic parents. The insights gained from analyzing this family enhance our understanding of the disease's molecular origin, aid in carrier identification, support genetic counseling, and emphasize the importance of prenatal genetic screening for families with a history of HI.

Autosomal dominant polycystic kidney disease (ADPKD) and autosomal dominant polycystic liver disease (ADPLD) are inherited cystic conditions with overlapping features but distinct genetic causes and clinical courses. Here, we report a case of a 50-year-old woman with a clinical diagnosis of ADPKD, hypertension, preserved kidney function, significant abdominal distention consistent with hepatomegaly, and innumerable kidney and hepatic cysts. Family history was remarkable for ADPKD clinical diagnosis in the patient's mother, maternal grandmother, and the grandmother's siblings. Genetic testing with a 385-gene NGS-based kidney disease panel (the Renasight test) identified heterozygous truncating pathogenic variants in PKD1: c.3957_3994dup p.(Asp1332Glyfs*27)) (ClinVar ID VCV003376509.1) and PRKCSH: c.374_375del p.(Glu125fs)) (ClinVarID VCV001048653.34). To our knowledge, this is the first reported case of dual monogenic drivers of ADPKD and ADPLD in a single individual. This report highlights the importance of using unbiased genetic testing in cystic disease evaluation, even when family history suggests a single condition, to inform prognosis, reproductive risk, and accurate cascade testing in relatives.

Undifferentiated Embryonal Sarcoma of the Liver (UESL) is a rare, aggressive mesenchymal tumor predominantly affecting children. Its non-specific clinical presentation and variable imaging characteristics often lead to diagnostic delays and complex management. We report a 6-year-old male presenting with a 2-month history of progressive abdominal distension and pain. Initial investigations, including abdominal ultrasound and Computed Tomography (CT), revealed a large, complex intra-abdominal mass, initially raising suspicion for hydatid cyst or desmoid tumor. Despite exploratory laparotomy and initial biopsy, the diagnosis remained elusive due to equivocal immunohistochemistry. A multidisciplinary tumor board and a second pathological review from an international expert center ultimately confirmed the diagnosis of UESL. The patient received neoadjuvant chemotherapy, underwent a second extended right hepatectomy, and has currently completed 6 cycles of adjuvant chemotherapy with good progress. UESL, although rare, necessitates a high index of clinical suspicion, a thorough diagnostic workup, and collaborative multidisciplinary management to achieve favorable outcomes, particularly given its aggressive nature and potential for recurrence.

Loco-regional recurrence after radical surgery in esophageal cancer is common. However, there is no universally accepted guideline for managing such loco-regional recurrences. Even after multiple local recurrences in the mediastinum, a patient can consolidate safely by re-radiotherapy in the mediastinal region with minimal late morbidity by judicious use of radiotherapy, if there is an acceptable time gap between two radiotherapy periods.