AME Case Reports最新文献

Background: Immune thrombocytopenia (ITP) is characterized by decreased platelet count due to immunological mechanisms. First-line treatment is corticosteroids, with thrombopoietin receptor agonists, rituximab, and splenectomy as second-line options. While surgical splenectomy is effective, it poses high bleeding risks in severe thrombocytopenia. Splenic embolization (SE) is considered an alternative to splenectomy for the treatment of steroid-refractory chronic ITP and has been reported to be an effective and minimally invasive option. However, there are few reports of SE being performed for acute ITP with life-threatening bleeding.

Case description: A 63-year-old man presented in shock with oral bleeding, bloody stools, and recurrent syncope. Laboratory tests revealed severe thrombocytopenia (4,000/mm³ platelets) and elevated platelet-associated immunoglobulin G (PA-IgG), leading to ITP diagnosis. Despite platelet transfusions, intravenous immunoglobulin, and high-dose steroids, his condition worsened with alveolar hemorrhage developing on day 3. Given the surgical risks, emergency SE was performed on day 5 using coils and gelatin sponge. Following SE and thrombopoietin receptor agonist administration, platelet counts improved from day 6, allowing discontinuation of transfusions by day 11. The patient was discharged from the intensive care unit on day 12 with stabilized platelets and improved respiratory status.

Conclusions: This case demonstrates that emergency SE can be an effective and safe alternative to splenectomy for refractory ITP with life-threatening bleeding, particularly when severe thrombocytopenia precludes surgical intervention. The rapid improvement in platelet counts suggests SE could be a viable emergency treatment option.

Background: Blunt thoracic aortic injury (BTAI) in adolescents is a rare but life-threatening condition associated with a high mortality rate. Patients with BTAI often present with multiple severe injuries, which can complicate the use of traditional surgical approaches. While thoracic endovascular aortic repair (TEVAR) has become a standard treatment for traumatic aortic injuries in adults, its application in pediatric cases remains relatively uncommon and is primarily supported by limited case reports. Furthermore, medium- and long-term follow-up data are lacking. We report the case of a 16-year-old male with BTAI and multiple organ injuries who was successfully treated with TEVAR and remained complication-free during a 69-month follow-up period.

Case description: A 16-year-old male sustained severe multisystem organ injuries after a fall from a five-story building. The patient was critically ill and required intubation during transport. Emergency computed tomography (CT) revealed extensive injuries, including: a descending aorta injury with pseudoaneurysm, bilateral pulmonary contusions with moderate left hemothorax, right pneumothorax, retroperitoneal effusion, right renal contusion with perirenal hematoma, Fractures of the skull base, upper and lower jaw, lumbar spine, sacrum fractures, and severe open wounds in the mouth, right knee joint, and bilateral heels. A multidisciplinary team determined that aortic injury repair should be prioritized. We ultimately performed an unconventional endovascular aortic repair in this adolescent patient. The procedure was completed efficiently without complications, and subsequent interventions successfully addressed the remaining injuries. The patient required a total hospital stay of 733 days and underwent 13 surgical procedures before being successfully discharged following rehabilitation. As of September 2024, the patient remains alive with no complications related to the arterial injury.

Conclusions: TEVAR represents a safe and viable short-term treatment option for adolescents with multiple traumatic injuries. The 69-month follow-up in this case confirms procedural success and suggests the effectiveness of TEVAR in this patient population.

Background: The article discusses a rare case of a giant immature teratoma (IMT) in an infant, highlighting the challenges in diagnosing and managing this type of germ cell tumor that arises from abnormal embryonic cell development. Teratoma growth syndrome represents a rare clinical manifestation, posing significant challenges in differential diagnosis, particularly when distinguishing it from peritoneal gliomatosis or progressive germinoma. In essence, growing teratoma syndrome (GTS) constitutes a distinct and intricate clinical entity that requires meticulous monitoring and management to enhance patient outcomes.

Case description: The patient was a male infant, presented with a palpable mass in the upper abdomen at 4 months of age. Initial ultrasound and elevated serum alpha-fetoprotein (AFP) levels suggested a retroperitoneal teratoma. After surgery, the diagnosis was confirmed as an IMT [World Health Organization (WHO) grade III]. Despite initial chemotherapy with BEP (bleomycin, etoposide, and cisplatin) and TIC (nab-paclitaxel, ifosfamide, and carboplatin) regimens, the tumor continued to grow, and the patient experienced GTS. A second surgery was performed, and the patient was subsequently treated with TCAV (nab-paclitaxel, cyclophosphamide, epirubicin and vincristine) and TIC chemotherapy, leading to normalization of AFP levels and no evidence of disease over a 4-year follow-up.

Conclusions: GTS is a rare clinical manifestation that presents substantial challenges in differential diagnosis, particularly in distinguishing it from conditions such as peritoneal gliomatosis or progressive germinoma. Fundamentally, this syndrome represents a unique and complex clinical entity necessitating careful monitoring and management to improve patient outcomes.

Background: Thrombotic microangiopathy (TMA) is a rare, life-threatening syndrome characterized by microvascular thrombosis, hemolytic anemia, thrombocytopenia, and organ dysfunction. While it can be induced by infections, drugs, malignancies, autoimmune disorders, or genetic defects, TMA is particularly uncommon in second breast cancer (SBC) patients with a history of Hodgkin lymphoma (HL).

Case description: We describe a 45-year-old female who developed metastatic SBC 18 years after curative HL treatment. The diagnosis of TMA was established on the basis of thrombocytopenia, hemolytic anemia (elevated lactate dehydrogenase, low haptoglobin, and a reticulocyte count of 5.72%), and multi-organ dysfunction, following the exclusion of thrombotic thrombocytopenic purpura and Shiga toxin-producing Escherichia coli (STEC)-hemolytic uremic syndrome. In this case, the multifactorial etiology-stemming from both paraneoplastic endothelial injury and chemotherapy-induced toxicity-complicated the clinical picture. Despite aggressive supportive measures, including plasma exchange and antibiotics, the patient's condition rapidly deteriorated, culminating in fatal cerebral hemorrhage.

Conclusions: This case highlights the diagnostic and therapeutic challenges of TMA in patients with complex oncologic histories, as exemplified by its rare occurrence in a patient with SBC post-HL. Although supportive care remains paramount, our findings suggest that complement inhibition with eculizumab may offer benefits in select cases, such as chemotherapy-induced and paraneoplastic TMA. Early detection and targeted intervention are crucial, warranting further research into eculizumab's potential role in high-risk settings.

Background: Transverse testicular ectopia (TTE) is a rare congenital anomaly where both testes descend through the same inguinal canal and are located on the same side. Cases with fused spermatic cords are particularly rare and present unique surgical challenges.

Case description: We report the case of an 8-month-old male infant with bilateral cryptorchidism and an empty scrotum since birth. Preoperative ultrasonography identified two testicular-like structures near the right internal inguinal ring. Laparoscopic exploration revealed bilateral patent processus vaginalis, with both testes located near the right internal inguinal ring. The left spermatic cord crossed the pelvis and fused with the right spermatic cord. Both testes appeared normal in size, with separate epididymides and vas deferens. Surgical management involved careful dissection and separation of the fused spermatic cords, followed by bilateral orchiopexy via the respective inguinal canals and repair of the processus vaginalis. At an 8-year postoperative follow-up, ultrasound confirmed that both testes were well-positioned with normal size and blood supply. Testosterone levels were monitored annually and remained within the normal range. This case highlights its significant role in the management of complex anomalies like TTE.

Conclusions: The postoperative course was uneventful, and an 8-year follow-up demonstrated that both testes remained well-positioned, with normal size, blood supply, and testosterone levels.

Background: Traumatic brain injuries (TBIs) are significant causes of morbidity and mortality worldwide. A compound depressed skull fracture (DSF) occurs when a laceration over the fracture exposes the internal cranial cavity to the external environment. DSFs are considered surgical emergencies that require prompt intervention to reduce morbidity and mortality. Currently, the literature lacks comprehensive information regarding the risks of intracranial infection and seizures, surgical indications, and the impact of surgical management on the functional and neurological outcomes of penetrating craniocerebral injuries (PCCIs). Our case report aims to enhance the existing literature by providing an overview of the management of frontal bone and frontal sinus fractures. We will emphasize key aspects such as the timing of surgery (early vs. delayed), the risks of infection and seizures, and the selection of prophylactic antibiotics. We present a case of PCCI with DSF that resulted in a favorable functional outcome.

Case description: We present a 21-year-old male who was involved in an MVA with an unknown mechanism and was brought by ambulance to our emergency department at Dammam Medical Complex. Initially, the patient was vitally stable, conscious, alert, and oriented. He had multiple scalp lacerations, including a mid-forehead open wound laceration with bone fragments and some brain tissue protruding out of the lacerated wound defect. After clinical deterioration, the patient underwent an urgent surgical exploration and elevation of skull fracture along with primary skull reconstruction. The mid-forehead wound defect was repaired in collaboration with the plastic surgery team.

Conclusions: Although a depressed frontal skull fracture involving both the outer and inner tables of the frontal sinus needs to be addressed on a case-by-case basis, cranialization of the inner table is preferred. Titanium mesh is a satisfactory alternative in case of inapplicable use of the patient's own bone fragments and chips. Collaborating with the plastic surgery team when dealing with complex mid-forehead wounds is also advisable to ensure optimal cosmetic outcomes. It is advisable to use anti-seizure medications (ASMs) prophylactically to prevent early, but not late, post-traumatic seizures (PTSs). A short course of broad-spectrum antibiotics is recommended in cases of open (compound) depressed fractures.

Background: Renal cell carcinoma (RCC) presenting with extension of tumor thrombus into the inferior vena cava (IVC) and right atrium is a rare, life-threatening condition that requires surgical treatment with the simultaneous involvement of multiple surgical subspecialties.

Case description: We present a case of a 65-year-old male who presented to the hospital with syncope, and was subsequently diagnosed with a level four cavoatrial sinus tumor thrombus extending from a primary renal mass. The patient had no concerning physical exam and electrocardiogram (EKG) findings, however, transthoracic and transesophageal echocardiography revealed severely reduced systolic function with a hyperechoic, vascular, and cystic mass extending from the IVC into the right atrial cavity that originated from a renal mass that involved the right renal vein and IVC.

Conclusions: The purpose of this case is to highlight the critical importance of early recognition and timely intervention in patients who present with nonspecific symptoms, such as syncope, which may signal underlying fatal conditions. This case illustrates RCC with tumor thrombus extending into the IVC and right atrium. This rare but serious manifestation highlights the need for a high index of suspicion and comprehensive evaluation when faced with vague clinical presentations. Early recognition not only facilitates appropriate management but can also alter the patient's prognosis and survival outcomes.

Background: Persistent genital arousal disorder (PGAD) is characterized by symptoms of persistent, spontaneous and unwanted genital arousal without sexual interest or thoughts which can cause significant impairment in psychosocial well-being and daily functioning. PGAD is still an under-recognized clinical entity. There are not yet clear evidence-based treatment recommendations.

Case description: This case describes a 20-year-old woman who has experienced persistent genital arousal symptoms for approximately 5 years. The patient's symptoms are consistent with the general characteristics of PGAD, but the sexual arousal symptoms are characterized by recurrent and spontaneous orgasmic experiences. In addition, the patient developed psychotic symptoms, such as delusion, secondary to sexual arousal symptoms. These experiences cause distress and severely affect the patient's daily life and social functioning. Although the patient had a history of epilepsy, we finally excluded the possibility of epileptic seizures after thorough investigation. After systematic antipsychotic treatment, the patient's symptoms were fully controlled, and the medication remained effective during the maintenance phase of treatment.

Conclusions: Our case suggests that the dopamine system may play an important role in pathological processes involving sensory abnormalities, particularly those involving the central nervous system. And the treatment with antipsychotic drugs may be one of the therapeutic directions for PGAD.

Background: Ulerythema ophryogenes (UO) is a rare cutaneous disorder characterized by inflammatory keratotic papules that primarily affect the face. This clinical case may enrich and provide an interesting literature overview on the laser therapy for UO, which represents a rare skin illness difficult to treat.

Case description: A 25-year-old female patient having an UO family history and who presented a progressive erythema and confluent horny follicular erythematous papules with areas of alopecia around the lateral third of eyebrows without signs of pitted or atrophic scars, which has been evident since childhood, underwent to a single session of dye laser. She was complaining of discomfort in the involved skin areas. The patient had not been taking any medications prior to laser therapy. The use of anaesthetic was avoided. After only one therapy session of dye laser the result was clinically optimal. A visible reduction in roughness and a partial hair regrowth in the treated area were observed at 2 months follow-up after treatment. The horn plugs were no longer evident, and the erythema had subsided. The hairs had become thicker, darker, and more numerous, covering most of the underlying dermatitis. Following the laser procedure, the patient didn't experience complications or severe adverse reactions.

Conclusions: Pulsed dye laser treatment appears to be a safe and effective treatment for the erythema and alopecia symptoms associated with this refractory condition.

Background: Apalutamide is approved for the treatment of nonmetastatic castration-resistant prostate cancer (nmCRPC) and metastatic hormone-sensitive prostate cancer (mHSPC). Currently, the incidence of rash is higher in patients treated with apalutamide. However, the occurrence of apalutamide-associated skin rash combined with apalutamide-induced neutropenia and eosinophilia in a single patient has not been reported previously. The aim of this study is to describe a rare and severe adverse reaction induced by apalutamide, in order to improve clinical awareness and facilitate early recognition and management. Here, we report a case of an mHSPC patient treated with apalutamide who experienced grade 3 rash combined with severe neutropenia and eosinophilia.

Case description: A 74-year-old male was diagnosed with prostate cancer (cT3bN1M1b) via transperineal prostate biopsy and radiographic examinations. Forty-one days after starting receiving apalutamide, the patient developed a systemic rash accompanied by fever. The routine blood tests indicated that the patient had severe neutropenia and eosinophilia. The condition was diagnosed as an apalutamide-induced drug reaction characterized by rash, severe neutropenia, and eosinophilia. After discontinuing apalutamide, administering antihistamines, providing protective isolation, preventing infection with antibiotics, stimulating neutrophils with recombinant human granulocyte colony-stimulating factor (rhG-CSF), and treating with systemic corticosteroid, the rash completely resolved, and the patient's temperature as well as neutrophil and eosinophil counts returned to normal. The patient is currently receiving intramuscular injections of triptorelin pamoate (15 mg every 3 months), with prostate-specific antigen (PSA) under effective control.

Conclusions: Apalutamide-associated rash combined with severe neutropenia and eosinophilia is rare in clinical practice, which not only reduces quality of life but also affects treatment adherence, and can even threaten the life of patients. Therefore, prior to initiating apalutamide treatment, health education should be provided to the patients. During apalutamide treatment, clinical follow-up and management should be intensified. After the occurrence of adverse events, relevant examinations should be performed promptly and early intervention should be implemented.