Clinical Case Reports最新文献

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.

Impalement injuries to the oral cavity are common in preschool-aged children due to their tendency to fall while holding objects in their mouths. A variety of items, including pencils, straws, cylindrical toys, chopsticks, spoons, forks, and toothbrushes, can lead to such injuries. This case report discusses the management of a 4-year-old girl who sustained an accidental toothbrush impalement into the left buccal mucosa, demonstrating satisfactory healing during follow-up visits. Timely management of impalement injuries is essential to avoid severe complications.

Bilateral supernumerary maxillary lateral incisors in non-syndromic adults are extremely rare and pose diagnostic and treatment challenges. This case report describes a 34-year-old male with esthetic concerns and malocclusion, successfully managed through strategic extraction, transverse expansion, and fixed orthodontic therapy, achieving stable occlusion and improved esthetics.

Klebsiella pneumoniae is an uncommon but increasingly recognized cause of Lemierre's syndrome, a condition classically associated with Fusobacterium necrophorum. This report describes a 32-year-old woman with poorly controlled type 2 diabetes mellitus who presented with a progressive odontogenic infection complicated by internal jugular vein thrombosis and cavitary septic pulmonary emboli. Imaging demonstrated a deep neck abscess with adjacent thrombophlebitis, and cultures from surgical drainage yielded K. pneumoniae with a wild-type susceptibility profile. The patient required invasive mechanical ventilation, broad-spectrum antibiotics, surgical source control, and therapeutic anticoagulation, resulting in complete clinical recovery. A review of published cases from 1996 to 2025 was performed, highlighting diabetes as the predominant risk factor, odontogenic or oropharyngeal disease as the most common source, and septic pulmonary emboli as a hallmark manifestation. This case represents the second documented instance of K. pneumoniae-associated Lemierre's syndrome in Nicaragua and reinforces the need for early imaging, prompt surgical management, and targeted antimicrobial therapy in diabetic patients presenting with deep neck infections.

Immunoglobulin replacement therapy (IRT) for primary immunodeficiency reduces infection risk and subsequent complications and can be lifesaving. However, IRT can cause severe systemic adverse events (AEs) that may limit adequate dosing. These AEs may be caused, in part, by activation and/or consumption of complement proteins, thereby lowering C1 esterase inhibitor (C1-INH) levels. Data suggest that C1-INH administration prior to intravenous immunoglobulin (IVIG) may reduce IVIG-related AEs. This case describes an adult with common variable immunodeficiency unable to tolerate IRT therapy (subcutaneous immunoglobulin [SCIG] 20% solution once weekly). She experienced AEs of severe neuropathy, described as burning and pins-and-needles sensation in the extremities and muscle twitching for several days post-treatment. Dose decreases of SCIG to 0.5 g did not improve the AE profile. Inability to tolerate IRT caused suboptimal dosing and inadequate primary immunodeficiency management, resulting in hospitalizations for pneumonia and sepsis. A trial of recombinant human C1-INH 4200 U was administered intravenously over approximately 5 min, 1 h prior to SCIG 1 g (Day 1). This dose was well tolerated with minimal AEs reported. SCIG 3 g was administered on Days 2 and 3 with no AEs reported. By continuing routine recombinant human C1-INH 4200 U prophylaxis, the patient was able to tolerate the recommended dose of SCIG 20 g once weekly without the debilitating neuropathy and other AEs previously experienced with SCIG alone. This case suggests that a patient with IRT-related AEs may benefit from C1-INH replacement therapy prior to SCIG/IVIG administration to improve tolerability.