Clinical Medicine Insights. Case Reports最新文献

Uterine fibroids are the most common benign gynecologic tumors; in pregnancy, degeneration may occur but is uncommon, whereas spontaneous rupture is an exceedingly rare complication. We present the case of a 43-year-old woman, gravida 2 para 2, at 17 weeks and 6 days of gestation, who was admitted with progressive abdominal pain and distension. Imaging revealed a large degenerating intramural fibroid with hemoperitoneum and a focal contour defect, raising concern for rupture. Despite stable vital signs, the patient experienced spontaneous abortion during hospitalization. Persistent abdominal pain and imaging findings warranted exploratory laparotomy, which revealed approximately 2 L of hemoperitoneum and a ruptured, necrotic fibroid. A uterine-sparing myomectomy was performed, and histopathology confirmed infarct-type degeneration with extensive hemorrhage and necrosis. The postoperative course was uneventful, and the patient was discharged in good condition. This case underscores that fibroid rupture in pregnancy may evolve subacutely, with preserved hemodynamics, and should be considered in pregnant patients with ongoing abdominal pain and degenerating myomas. Prompt recognition and timely surgical intervention are critical for favorable outcomes and uterine preservation.

The use of the transradial approach for performing coronary angiography is now a trend owing to the low risk of bleeding as well as quick recovery. Rare but life-threatening complications, such as acute compartment syndrome, must be identified promptly. A 60-year-old man presented to the hospital with excruciating pain and swelling in the forearm 2 hours post a transradial coronary angiography procedure. He was later diagnosed with acute compartment syndrome secondary to radial artery injury and managed with emergency fasciotomy, achieving full functional recovery. The transradial approach, while commonly used, can be associated with rare but serious complications such as acute compartment syndrome. In this case, early diagnosis and timely surgical intervention were crucial in preventing permanent damage. Clinicians should remain vigilant to ensure prompt management and favorable outcomes.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a strong genetic basis, and rare X-linked variants may contribute to its pathogenesis, particularly in consanguineous families. We present 2 pediatric cases from related Turkish families carrying a novel hemizygous DRP2 stop-gain mutation (p.Q232X). Case 1, a 5-year-old male, presented with ASD, macrocephaly, hypotonia, chronic otitis media with conductive hearing loss, and a mild demyelinating polyneuropathy confirmed electrophysiologically. Case 2, a 7-year-old male cousin, showed developmental delay, hyperactivity, bilateral cryptorchidism, and recurrent otitis media with hearing loss. Whole-exome sequencing identified the same DRP2 mutation in both patients, classified as likely pathogenic. Case 1 additionally carried heterozygous variants of uncertain significance in COL4A2 and MFN2. Multidisciplinary management included behavioral, speech, occupational, and physical therapies, as well as tympanostomy and orchiopexy. Longitudinal follow-up showed improved communication, motor function, and hearing, with stable neuropathy in Case 1. This report introduces a potentially novel role of DRP2 in ASD, extending its phenotypic spectrum beyond neuropathy, and underscores the need for further cases to define genotype-phenotype heterogeneity. Recognition of this variant is clinically relevant for genetic counseling in consanguineous populations, where risks extend beyond neuropathy to include broader neurodevelopmental outcomes.

Amyloidosis is a broad category of diseases characterized by the extracellular accumulation of misfolded fibrillar proteins, which disrupt organ architecture and causes cellular toxicity. This ultimately results in vascular compromise and progressive organ dysfunction. Despite advances in serum free light chain assays and imaging modalities, diagnostic delays persist due to the underestimation of early signs and the need for multidisciplinary correlation. Our case report highlights a unique case of a patient with systemic AL amyloidosis involving the gastrointestinal (GI) system, who initially presented with chronic diarrhea and profound weight loss. We emphasize the diagnostic challenges in recognizing multiorgan amyloidosis, underscore the role of histopathology and advanced imaging in confirming systemic spread, and discuss the clinical implications of concurrent GI disease. In this piece, we also discuss the therapeutic treatment of amyloidosis including chemotherapy and supportive care for the major presenting symptom, diarrhea. The key lesson of our case is the importance of having a high clinical suspicion of amyloidosis in patients with unexplained GI symptoms, especially diarrhea.

Background: Prosthetic joint infection (PJI) following proximal interphalangeal joint (PIPJ) arthroplasty is rare, with most reported cases involving bacterial organisms. Fungal PJIs comprise <1% of all PJIs, with Fusarium species an exceptionally uncommon cause, particularly in the upper extremity.

Case presentation: A 60-year-old female with a history of rheumatoid arthritis on methotrexate and adalimumab underwent right long finger PIPJ silicone arthroplasty. She presented 12 weeks postoperatively with pain, swelling, and radiographic changes concerning for PJI despite normal inflammatory markers. Implant explantation with debridement was performed, and intraoperative cultures grew Fusarium species. Initial oral voriconazole was insufficient, necessitating readmission for intravenous liposomal amphotericin B and oral posaconazole. Thirty-nine days after completing her 6-month antifungal course, she underwent arthrodesis, which later failed, requiring revision with iliac crest autograft and dorsal plate fixation. At latest follow-up, she remained pain-free with radiographic union and no recurrent infection.

Conclusions: Based on available literature, this represents the first reported case of Fusarium PJI following silicone arthroplasty of the hand. This underscores the importance of maintaining suspicion for atypical pathogens in immunosuppressed hosts and highlights the complexities managing fungal infections in small joint arthroplasty.

Melanotic schwannoma is a rare malignant tumor of nerve sheaths characterized by melanin-producing cells. It is mostly localized in the posterior roots of spinal nerves or sympathetic ganglia whereas the intracranial localizations are less common. The aim of this study is to describe a case of sporadic melanotic schwannoma of the right cerebellopontine angle, including a literature review of the topic. This is the case of a 79-year-old woman who presented with right-sided hearing loss and vertigo. Magnetic resonance imaging (MRI) of the brain revealed an 8 × 6 mm lesion at the level of the right cerebellar peduncle, hyperintense on T1-weighted sequences. A gross total resection of the lesion was performed through a retrosigmoid approach. The histological and immunohistochemical exams were consistent with a malignant melanotic schwannoma. Research was conducted using Pubmed and a reference list. Only melanotic schwannomas with intracranial localizations were considered. Twenty-nine articles were included in this review, reporting a total number of 32 cases of intracranial melanotic schwannomas. The treatment of choice is the complete surgical excision of the neoplasm; adjuvant radiotherapy correlates with lower rates of recurrence and metastasis. Our case represents the latest onset of an intracranial melanocytic schwannoma with a clinical course similar to a conventional eighth cranial nerve schwannoma.

Background: This report presents a unique case of subacute BCS in a patient with systemic lupus erythematosus (SLE), antiphospholipid syndrome (APS), and multiple inherited thrombophilic disorders No previous history and lack of inciting events meant extensive investigation had to be done to figure out the underlying pathology. The amalgam of thrombophilias presenting initially as Sub-Acute Budd Chiari syndrome is very rare to find in the literature and highlights the importance of early screening and diagnosis to prevent complications of Thrombosis.

Case presentation: The patient presented with a 3 months history of progressive abdominal distension, hematemesis, and altered consciousness. The diagnosis made was Sub-Acute Budd Chiari Syndrome. The patient was managed with anticoagulation, diuretics, and symptomatic treatment. After stabilization the patient was discharged for follow-up after 2 weeks.

Conclusion and key take-away lessons: This case highlights the diagnostic challenges of BCS, particularly in patients with hereditary hypercoagulability. Early recognition and management are critical in preventing severe complications of thrombosis. Moreover, it underscores the impact of limited healthcare access in rural settings, emphasizing the need for improved screening, awareness, and targeted interventions for thrombophilic disorders with a set diagnostic criteria for sub-acute presentation.

We present a case of a 3-year-old girl with previously diagnosed type 1 diabetes mellitus (T1DM) who was admitted in an unconscious state with severe diabetic ketoacidosis (DKA), lactic acidosis, and coma. The condition was complicated by profound dehydration, leukemoid reaction of neutrophilic type, and reactive thrombocytosis. Early intensive care management, mechanical ventilation, and insulin therapy led to stabilization and gradual recovery. This case highlights the critical importance of early recognition, aggressive management, and multidisciplinary care in pediatric patients with complicated DKA.

Background: Hydrocele of the canal of Nuck is a rare congenital condition in females that often mimics other groin masses, making accurate diagnosis challenging. Limited awareness, particularly among non-surgical clinicians, often leads to unnecessary investigations or delayed treatment. Greater recognition of this entity is crucial for timely diagnosis and appropriate management.

Case presentation: We report the case of a 6-year-old girl who presented with a painless swelling in the right inguinal region, persisting for six months. On examination, a firm, non-tender mass measuring 3 × 3 cm was noted. Ultrasonography revealed a well-defined, unilocular cystic lesion measuring 4 × 3 cm, extending through the inguinal canal into the labia majora. Surgical excision was performed, with careful dissection from the round ligament and ligation of the canal of Nuck at the deep inguinal ring. The cyst contained clear serous fluid. The patient's postoperative course was uneventful, and no recurrence was observed at three-month follow-up.

Conclusion: Hydrocele of the canal of Nuck is an uncommon and often overlooked condition with limited representation in surgical and gynecological literature, yet it remains an important differential diagnosis for inguino-labial swelling in young females. Early clinical recognition is crucial to avoid unnecessary imaging or invasive procedures. Ultrasonography provides a reliable, non-invasive means of differentiation from other inguino-labial masses, while surgical excision remains the definitive treatment with excellent outcomes. This case underscores the importance of considering this diagnosis in young females presenting with inguino-labial swelling.

Cervical traction therapy is commonly used for cervical spondylosis; however, complications, such as subdural hematomas can occur. Possible mechanisms include cerebrospinal fluid (CSF) leakage and bridging vein damage. A 51-year-old Japanese woman developed a persistent headache after 2 weeks of cervical traction therapy. Magnetic resonance imaging revealed bilateral subdural hematomas. Bed rest, oral analgesics, and daily infusion therapy failed to improve symptoms, but 2 epidural blood patches led to recovery. Although no direct CSF leakage was found, a spinal epidural lesion may have contributed. Cervical traction therapy may cause subdural hematomas via intracranial hypotension. Clinicians should consider this risk and conduct thorough diagnostic evaluations in affected patients.