Journal of Medical Case Reports最新文献

Background: Mandibulofacial dysostosis, Guion-Almeida type is an autosomal dominant disorder characterized by craniofacial malformations and intellectual disability. Pathogenic EFTUD2 variants represent the primary genetic etiology of Mandibulofacial dysostosis, Guion-Almeida type. In this report, we describe a family with Mandibulofacial dysostosis, Guion-Almeida type, where two consecutive singleton pregnancies were affected due to the presence of a novel EFTUD2 variant in their mosaic mother.

Case presentation: A 30-year-old Han Chinese pregnant woman (gravida 3, para 0) chose amniocentesis for genetic diagnosis at 19 weeks and 4 days of gestation due to the presence of a pathogenic EFTUD2 variant [NM_004247.4:c.2444_2445del (p.V815Gfs*69)] in her second fetus. Copy number variation sequencing detected no chromosomal aneuploidies or copy number variations. However, the c.2444_2445del variant was once again identified in her third fetus via whole exome sequencing. Sanger sequencing results unexpectedly detected that the woman displayed low-level mosaicism of this variant. Finally, the woman decided to terminate the pregnancy at 23 weeks and 3 days of gestation. The literature review indicated isolated or nonisolated prenatal ultrasound abnormalities, such as micrognathia, polyhydramnios, a small or absent stomach bubble, and microcephaly, may serve as valuable indications for prenatal diagnosis of Mandibulofacial dysostosis, Guion-Almeida type.

Conclusion: This family case expands the mutational spectrum of Mandibulofacial dysostosis, Guion-Almeida type and highlights familial occurrence of mosaicism in parents without Mandibulofacial dysostosis, Guion-Almeida type symptoms. Therefore, comprehensive genetic counseling and consideration of prenatal testing for subsequent pregnancies are advised.

Background: Hypoparathyroidism during pregnancy is an uncommon condition, particularly in nonsurgical patients. DiGeorge syndrome (22q11.2 deletion syndrome), a common microdeletion disorder, presents with highly variable features that often delay diagnosis until adulthood. In the absence of hallmark findings such as congenital heart defects or dysmorphic features, diagnosis can be missed or delayed. This case emphasizes the importance of a systematic approach for clinicians facing low calcium levels during pregnancy. Furthermore, it provides valuable guidance for managing and monitoring hypocalcemia resulting from primary hypoparathyroidism during pregnancy.

Case: We describe a 27-year-old Hispanic woman who presented in the third trimester with chronic, asymptomatic hypocalcemia. Her history included multiple unexplained second-trimester pregnancy losses. She had no prior neck surgery, autoimmune disease, or typical symptoms of hypocalcemia. Biochemical evaluation revealed low serum calcium and suppressed parathyroid hormone levels, consistent with primary hypoparathyroidism. Genetic testing confirmed a 22q11.2 microdeletion, establishing the diagnosis of DiGeorge syndrome. She was treated with moderate-dose cholecalciferol and oral calcium supplements. Activated vitamin D analogues were not needed, as endogenous 1,25-dihydroxyvitamin D levels were adequate and calcium levels remained stable with conservative therapy. With close biochemical monitoring, maternal calcium levels remained within the target range, and she delivered a healthy infant with normal neonatal calcium. However, after stopping supplements postpartum, she developed biochemical hypocalcemia and was lost to follow-up, although she remained asymptomatic.

Conclusion: This case highlights the importance of evaluating persistent hypocalcemia during pregnancy, even in the absence of clinical symptoms, and considering genetic causes when acquired etiologies are excluded. The postpartum period requires continued monitoring, as hormonal shifts can unmask calcium imbalance. Early recognition of DiGeorge syndrome carries implications for reproductive counseling, neonatal screening, and long-term family planning.

Background: With advances in the biocompatibility of hemodialysis membranes, severe dialyzer-associated thrombocytopenia following heparin-free hemodialysis is uncommon and is not easily detected without postdialysis regular blood tests or in the absence of postdialysis bleeding symptoms.

Case presentation: Herein, we present the case of a 58-year-old East Asian patient on hemodialysis who experienced cyclic episodes of severe thrombocytopenia following heparin-free hemodialysis, which led to significant thrombocytopenia even on nondialysis days, resulting in the cancellation of scheduled kidney transplantation. Additional tests showed no specific hematologic or other diagnosis. Hemodialysis membrane-induced thrombocytopenia was suspected because of the peridialysis pattern of the platelet count. After changing the dialyzer from a polysulfone-polyvinylpyrrolidone blend membrane to a medium cut-off polyarylethersulfone and polyvinylpyrrolidone blend membrane, the patient demonstrated considerable improvement in cyclic thrombocytopenia following hemodialysis and underwent kidney transplantation without bleeding complications. Platelet levels were fully recovered and maintained following kidney transplantation.

Conclusion: Severe hemodialysis membrane-induced thrombocytopenia following heparin-free hemodialysis can occur even in the era of dialyzers with excellent biocompatibility. Although postdialysis platelet count is not routinely measured in clinical settings, the platelet count should be determined, especially in patients with predialysis thrombocytopenia.

Background: Hepatic abscess represents an exceptionally rare extraintestinal complication of ulcerative colitis, with only 11 cases reported in literature to date.

Case presentation: We describe a 43-year-old Chinese woman with ulcerative colitis who developed a hepatic abscess secondary to Klebsiella pneumoniae infection. The diagnosis was confirmed by microbiological isolation of Klebsiella pneumoniae from both blood and abscess cultures. The patient received a combined therapeutic strategy involving culture-directed antibiotics and optimization of ulcerative-colitis-specific treatment, resulting in complete clinical resolution and no recurrence over a 5-year longitudinal follow-up.

Conclusion: This case describes a Klebsiella pneumoniae-associated hepatic abscess in a patient with ulcerative colitis, a combination not previously reported in literature. This case highlights the extraordinary rarity of Klebsiella pneumoniae-associated hepatic abscesses in ulcerative colitis populations. Clinicians should consider this diagnosis in patients with ulcerative colitis presenting with right upper quadrant pain accompanied by pyrexia, even in the absence of classic risk factors. Expedited abdominal imaging and targeted antimicrobial therapy are essential to prevent systemic complications.

Background: Endoscopic cyanoacrylate injection (ECI) is an established first-line treatment for gastric variceal bleeding (GVB). However, a rare but potentially fatal complication of this therapy is systemic embolization of the cyanoacrylate, most often to the lungs or spleen, while emboli to systemic circulation are exceedingly uncommon.

Case presentation: We report the case of a 71-year-old Asian male patient with cirrhosis who was found to have gastric variceal bleeding. He underwent endoscopic variceal obliteration using histoacryl (N-butyl cyanoacrylate) injection under intravenous anesthesia. Postprocedure, he exhibited delayed emergence from anesthesia and remained comatose. Laboratory and imaging examinations led to the diagnosis of multiple systemic embolization involving the brain, heart, spleen, and spinal cord, caused by cyanoacrylate.

Conclusion: Although multiple systemic embolization is extremely rare, clinicians should be vigilant for this complication, especially in patients with abnormal shunts. Careful preprocedural screening for shunts, meticulous injection technique, and close monitoring may facilitate early detection and timely intervention, potentially improving patient outcomes.

Background: We present a patient with a history of mastectomy and breast reconstruction for breast cancer who was found to have ipsilateral internal mammary lymphadenopathy on diagnostic imaging performed for a benign contralateral breast abnormality. As newly identified lymphadenopathy in breast cancer patients may indicate metastasis requiring treatment, a comprehensive workup confirmed silicone-induced lymphadenitis, a rare inflammatory condition that closely mimics malignancy. The pathognomonic imaging findings are crucial for diagnosing silicone lymphadenitis. While relatively straightforward in accessible sites such as the axilla, detection proved challenging in intrathoracic nodes owing to overlying bony structures.

Case presentation: An otherwise healthy, asymptomatic 79-year-old Caucasian woman with a history of left-sided breast cancer, treated 25 years ago with modified radical mastectomy, failed transverse rectus abdominis muscle flap reconstruction, and subsequent silicone implant-based reconstruction, underwent routine screening mammography. New lower outer quadrant densities were noted in the contralateral intact breast. Her medical, psychosocial, and family histories were not contributory. Magnetic resonance imaging with contrast revealed benign findings in the right breast and no changes in the reconstructed left breast. However, it identified two enlarged left internal mammary nodes. A positron emission tomography-computed tomography scan revealed mildly hypermetabolic left internal mammary lymph nodes raising suspicion for possible metastatic breast cancer. Diagnostic ultrasound demonstrated the pathognomonic "snowstorm sign," indicative of silicone uptake in draining lymph nodes due to extracapsular implant rupture. Magnetic resonance imaging and biopsy confirmed the presence of silicone within the affected nodes.

Conclusion: This case highlights the diagnostic challenge of silicone-induced lymphadenitis, which can mimic metastatic disease in breast cancer patients with implants. The "snowstorm sign" on ultrasound and noncontrast breast magnetic resonance imaging protocols are helpful for identifying silicone migration, while histopathology confirms the diagnosis. Distinguishing silicone-related inflammation from malignancy is essential to prevent unnecessary interventions and ensure appropriate management.

Background: Rhabdomyolysis is a rare but potentially life-threatening condition characterized by muscle necrosis and the release of intracellular contents into the bloodstream. Viral infections are among the most common causes of rhabdomyolysis in children. Rhabdomyolysis associated with influenza A and respiratory syncytial virus co-infection is exceedingly rare, particularly in infants.

Case presentation: We report a case of a 6-month-old infant Han Chinese boy. He presented with fever, cough, irritability, dark urine, and significantly elevated levels of creatine kinase and myoglobin. A respiratory pathogen test was positive for influenza A and respiratory syncytial virus.The diagnosis was bronchopneumonia and rhabdomyolysis. Early identification, active fluid resuscitation, and supportive care led to good results.

Conclusion: This case underscores the importance of considering rhabdomyolysis in infants with viral infections, especially during the flu season, and highlights the need for timely diagnosis and management to prevent severe complications.

Background: Snakebite envenomation is a significant global health issue, with India accounting for a substantial number of cases, particularly in rural areas. Venom-induced consumption coagulopathy is a common complication; however, thrombotic microangiopathy remains rare and not well understood. Thrombotic microangiopathy is characterized by microvascular thrombosis, microangiopathic hemolytic anemia, thrombocytopenia, and organ dysfunction. Understanding the pathophysiological differences in snakebite-induced thrombotic microangiopathy is critical for optimizing treatment and outcomes.

Case presentation: We report a case of snakebite-induced thrombotic microangiopathy in a 22-year-old male individual from eastern India who presented with severe thrombocytopenia, acute kidney injury, and neurological deficits. Laboratory investigations revealed schistocytes, elevated lactate dehydrogenase levels, and a PLASMIC score of 6, suggesting thrombotic thrombocytopenic purpura as a subtype of thrombotic microangiopathy. The patient was treated with plasma exchange therapy and supportive measures, including hemodialysis. Initial neurological deterioration, compounded by cerebral edema, necessitated mechanical ventilation. Over time, the patient's condition improved, and he was discharged on day 42 with recommendations for regular nephrology follow-up.

Conclusion: Snakebite-induced thrombotic microangiopathy may differ from classical thrombocytopenic purpura, potentially involving venom-mediated Von Willebrand factor activation without severe ADAMTS13 deficiency. The use of platelet transfusions before referral may have worsened microthrombus formation and neurological symptoms. This case underscores the need for early recognition of thrombotic microangiopathy in patients who experienced snakebite presenting with thrombocytopenia and microangiopathic hemolytic anemia, even with normal coagulation parameters. Further research is essential to refine diagnostic and management strategies, including cautious platelet transfusion use, to improve outcomes in such complex cases.

Background: We report two cases of severe amlodipine poisoning (> 1000 mg) during a suicide attempt.

Case presentation: Both patients (male, white, aged 70 and 28 years, respectively) experienced severe vasoplegic shock and were referred to us from regional hospitals via our extracorporeal membrane oxygenation hotline. In addition to the recommended therapy, both patients underwent albumin dialysis. Despite this, the vasopressor demand remained sky high, in both cases above 2 µg/kg/minute norepinephrine. Ultimately, both patients required veno-arterial extracorporeal membrane oxygenation support. There were slight differences in treatment; one patient received lipid emulsion and the other hydroxycobalamin, both of which caused interesting technical difficulties with continuous renal replacement therapy. Finally, we were able to wean both patients off extracorporeal support as well as all vasopressors. Both were discharged from the intensive care unit.

Conclusion: In cases so severe, swift action is of the essence and some of the available treatments cancel each other out and should be timed accordingly. Therefore, on the basis of our experiences and the standing recommendations we developed a treatment algorithm that takes not only the case severity but also the time frame in which the treatment should be administered into account.

Background: Coronary artery anomalies represent morphological deviations from standard coronary anatomy, occurring in less than 1% of the general population. Although coronary artery anomalies are often asymptomatic, they can lead to serious complications, including sudden cardiac death and cardiac ischemia. Percutaneous coronary intervention in patients with coronary artery anomalies presents challenges, with an increased risk of ostial dissection, particularly in the setting of ST-segment elevation myocardial infarction.

Case presentation: This case report describes the successful management of a 51-year-old Syrian male with inferior ST-segment elevation myocardial infarction caused by an anomalous aortic origin of a coronary artery arising from the ascending aorta. Following successful percutaneous coronary intervention, the patient achieved clinical stability.

Conclusion: This case demonstrates the challenges and successful management of inferior ST-segment elevation myocardial infarction caused by anomalous aortic origin of a coronary artery. The case emphasizes the importance of recognizing and managing this rare condition, particularly during acute coronary syndromes. Further research is essential to optimize management strategies for patients with coronary artery anomalies, given the increased procedural risk of percutaneous coronary intervention.