Journal of investigative medicine high impact case reports最新文献

Cerebral venous thrombosis in pregnancy in the first trimester is a very rare condition but should not be confused with the clinical presentation of other common conditions in pregnancy such as pre-eclampsia. Although it is rare and difficult to diagnose, it is potentially serious and can increase maternal mortality. Diagnosis by imaging tests such as MRI and early treatment with heparin reduces maternal and perinatal morbidity and mortality. We present the case of a 39-year-old pregnant woman at 8 weeks' gestation who presented with early onset of severe headache and vomiting; MRI with angiography revealed a thrombosis in the right transverse venous sinus. Early treatment based on anticoagulation with heparin and maintenance with warfarin allowed a favorable response without neurological sequelae in the acute phase and at subsequent follow-up. The physiological state of hypercoagulability of pregnancy could increase the occurrence of pathologies such as cerebral venous thrombosis. We report this case as the only one published in the local literature.

Autoimmune pericarditis is commonly idiopathic but may represent the initial manifestation of systemic autoimmune disease. Hepatic autoimmune disorders rarely present with primary cardiac involvement, and recognition of extrahepatic presentations is essential for early diagnosis and prevention of organ damage. Autoimmune hepatitis-primary biliary cholangitis (AIH-PBC) overlap syndrome is an uncommon entity characterized by combined hepatocellular and cholestatic immune-mediated injury. A previously healthy young woman presented with progressive pleuritic chest pain and dyspnea and was found to have a large pericardial effusion causing hemodynamic compromise requiring surgical drainage. Pericardial pathology demonstrated acute and chronic fibrinous pericarditis. Initial evaluation revealed elevated inflammatory markers and mild transaminitis with positive autoimmune serologies including antinuclear antibody and anti-smooth muscle antibody. Following clinical improvement, she developed recurrent pericarditis accompanied by worsening liver enzyme abnormalities. Liver biopsy demonstrated chronic active hepatitis with bile duct injury and bridging fibrosis, consistent with autoimmune hepatitis-primary biliary cholangitis overlap syndrome. Cardiac magnetic resonance imaging confirmed active pericardial inflammation without myocarditis. Immunosuppressive therapy with corticosteroids followed by azathioprine resulted in clinical stabilization. This case highlights autoimmune pericarditis as the presenting manifestation of AIH-PBC overlap syndrome and underscores the importance of evaluating unexplained pericarditis for systemic autoimmune disease. Early recognition of cardio-hepatic autoimmune overlap allows timely immunosuppressive therapy and may prevent progression to advanced hepatic fibrosis.

Guillain-Barré syndrome (GBS) is an acute immune-mediated polyneuropathy that can involve the autonomic nervous system, leading to hemodynamic instability. While transient arrhythmias are typically observed, the occurrence of acute heart failure (AHF) within the GBS spectrum is exceedingly rare. We report the case of a previously healthy 61-year-old Caribbean South-Asian male who developed intractable left ventricular dysfunction (LVD) and cardiogenic shock (CS) after returning from a one-month vacation in Canada, from which he ultimately succumbed despite aggressive guideline-directed medical therapy (GDMT) and high-dose intravenous immunoglobulin (IVIG). Notably, the patient's younger brother predeceased him (25 years) from a suspected GBS-related complication, while his niece also survived a protracted GBS-hospitalization when she was very young (4 years). This case highlights that acute cardiomyopathy (CMP) may be a rare but catastrophic sequela of GBS, underscoring the importance of early recognition and intensive supportive care. The robust familial link also suggests a potential genetic susceptibility to GBS, warranting heightened vigilance and further research.

Piperacillin-tazobactam is a widely used β-lactam antibiotic, yet occupational systemic anaphylaxis remains exceptionally rare. We report the case of a 26-year-old female nurse with persistent atopic dermatitis and previous history of allergic contact dermatitis to nickel and cobalt, who developed occupational anaphylaxis while preparing intravenous cefuroxime and piperacillin-tazobactam. She presented with acute erythematous papules, rhinorrhea, wheezing, dyspnea, and tachycardia, requiring treatment with intramuscular epinephrine, intravenous clemastine, and hydrocortisone, with complete clinical resolution. She later tolerated cefuroxime handling but developed a generalized rash following accidental skin contact with piperacillin-tazobactam powder. No cofactors were identified, and no reactions occurred outside the workplace. Skin prick testing was performed and elicited an exuberant positive response, with a wheal >20 mm, marked erythema, pruritus, and satellite vesicles after 15 minutes. Additional work-up showed positive specific IgE to penicilloyl G and amoxicillin, with negative latex and formaldehyde testing and normal baseline tryptase. This case supports piperacillin-tazobactam as a potential occupational allergen capable of inducing severe IgE-mediated reactions through non-therapeutic exposure, possibly via inhalation or skin contact during drug reconstitution. Early recognition, diagnostic confirmation, exposure avoidance, and workplace adjustments are essential to prevent recurrent reactions and reduce the risk of occupational disability. In selected cases transfer to a low-exposure work environment may be required. This case reinforces that non-therapeutic occupational exposure to piperacillin-tazobactam can lead to life-threatening IgE-mediated anaphylaxis, highlighting the need for increased awareness and structured preventive strategies in healthcare settings.

Takotsubo syndrome (TTS) frequently presents with chest pain, ST-segment elevation, and troponin elevation, closely mimicking acute coronary syndrome, and can be complicated by acute heart failure and cardiogenic shock. In a subset of patients, dynamic left ventricular outflow tract obstruction (LVOTO) with systolic anterior motion (SAM) of the mitral valve contributes to hemodynamic instability and requires a distinct therapeutic approach. We report a 79-year-old woman admitted for evaluation of biliary and pancreatic ductal dilation who developed acute chest pain followed by dizziness and hypotension during hospitalization. Electrocardiography demonstrated anterolateral ST-segment elevations, and HS troponin I peaked at 7,594 ng/L. Emergent coronary angiography revealed mild, non-obstructive coronary artery disease, while left ventriculography demonstrated apical akinesis with basal hyperkinesis consistent with TTS. Persistent hypotension despite intravenous fluids prompted bedside echocardiography, which demonstrated severe left ventricular systolic dysfunction with basal hypercontractility and SAM. Transthoracic echocardiography confirmed severe dynamic LVOTO (peak gradient 126 mmHg) with moderate mitral regurgitation and reduced ejection fraction (25%-30%). Phenylephrine was initiated with prompt improvement in blood pressure and symptoms, while inotropes and afterload-reducing agents were avoided. With cautious volume resuscitation and beta-blockade after stabilization, serial echocardiography demonstrated reduction in LVOT gradient and improvement in mitral regurgitation. This case highlights the importance of early echocardiography in hypotensive patients with suspected TTS, the need for mechanism-directed management when dynamic LVOTO is present, and suggests that the distribution of regional wall motion abnormalities may influence the development of obstructive physiology.

Epilepsia partialis continua is an uncommon form of focal status epilepticus characterized by continuous focal motor activity with preserved awareness. In adolescents with psychiatric comorbidity, these movements may be mistaken for functional or compulsive behavior, a phenomenon that may reflect diagnostic overshadowing, the misattribution of neurological or medical symptoms to a preexisting psychiatric condition. A 15-year-old boy with anxiety disorder, obsessive compulsive disorder, and panic disorder presented with a two week history of persistent right toe and foot tapping that spread proximally and became painful. His family reported that the movements continued during sleep, although inpatient observation showed that they occasionally paused or disappeared. This inconsistency contributed to an early impression of a psychogenic process and led to the deferral of neuroimaging. Continuous video EEG subsequently demonstrated frequent, rapidly recurring epileptiform discharges over the left central region that corresponded to the right foot movements, confirming epilepsia partialis continua. Treatment with lacosamide and clobazam led to complete resolution of the movements and pain within 24 hours. Subsequent brain MRI was unremarkable, and symptoms remained controlled on follow up. This case illustrates how psychiatric history can shape diagnostic reasoning and delay recognition of epilepsia partialis continua. Persistent focal motor activity, even when intermittently suppressible or behaviorally ambiguous, should prompt early consideration of this diagnosis and escalation to prolonged video EEG when routine evaluation is inconclusive, enabling accurate diagnosis and effective seizure control.

Post-myocardial infarction ventricular septal defect (VSD) is a rare but frequently fatal mechanical complication. We report a 67-year-old man who presented approximately 48 hours after symptom onset with dyspnea and was diagnosed with an ST-segment elevation myocardial infarction. He underwent emergent percutaneous coronary intervention supported by Impella placement but subsequently developed a large ventricular septal defect two days later, complicated by Impella malfunction. The patient ultimately underwent successful surgical repair. This case highlights the importance of maintaining a high index of suspicion for mechanical complications in late-presenting myocardial infarction, even after apparent stabilization with revascularization and mechanical circulatory support.

Polycythemia vera (PV) is a clonal myeloproliferative neoplasm primarily caused by the JAK2V617F mutation, present in 95% of patients. It results in erythropoietin-independent hematopoietic proliferation, erythrocytosis, increased hematocrit (Hct), leukocytosis, thrombocytosis, and hyperviscosity, predisposing patients to thrombotic events and neurologic deficits, including erythromelalgia and pruritus. Neurologic manifestations can occur, such as transient ischemic attack (TIA) and stroke. We report an 83-year-old woman, PV patient who presented with chorea and magnetic resonance imaging (MRI) of her brain showed pachymeningeal enhancement (dural-arachnoid enhancement); this radiological finding is most commonly described in intracranial hypotension, autoimmune conditions, infection, and neoplastic processes and has not been reported in PV. Laboratory findings included complete blood count (CBC) showed severe erythrocytosis, moderate leukocytosis with moderate, mild thrombocytosis; bone marrow (BM) aspiration and biopsy showed hypercellular BM and marked megakaryocytic hyperplasia; and positive JAK2V617F mutation with 80% JAK2 DNA, suggestive of PV as the underlying cause. The patient underwent phlebotomy and was started on Aspirin. Following treatment, she showed dramatic improvement in choreiform movements. Hydroxyurea 500 mg three times daily was subsequently added, leading to complete hematologic response and resolution of pachymeningeal thickening on follow up MRI. This case suggested association between polycythemia vera and choreiform movements and a possible mechanism is proposed.

Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase fusions (M/LN-eo-TK) are uncommon but highly treatable disorders. Among them, FIP1L1::PDGFRA-driven disease is distinguished by marked eosinophilia and multisystem involvement that can rapidly reverse with targeted therapy. We describe a 50-year-old man with uncontrolled diabetes who presented with progressive dyspnea, abdominal discomfort, and painful necrotic scrotal ulcers. Laboratory testing revealed leukocytosis with a striking absolute eosinophil count of 22.1 × 10³/µL, while imaging showed pulmonary infiltrates, small-bowel inflammation, and splenomegaly. Bone marrow examination demonstrated hypercellularity with prominent eosinophilic proliferation. Fluorescence in situ hybridization confirmed a PDGFRA rearrangement with CHIC2 deletion, establishing the diagnosis of FIP1L1::PDGFRA-positive M/LN-eo-TK. Imatinib was initiated at 400 mg daily, later reduced to 200 mg, leading to a rapid normalization of eosinophil counts and resolution of systemic and dermatologic manifestations within 2 weeks. The case highlights how delayed recognition of clonal eosinophilia can permit extensive organ injury, whereas early molecular testing and prompt initiation of imatinib yield dramatic clinical and hematologic remission. Persistent hypereosinophilia, particularly with cutaneous or gastrointestinal involvement, should prompt evaluation for PDGFRA-rearranged disease to enable early intervention and prevent irreversible tissue damage.

Acute promyelocytic leukemia (APML) is a rare hematologic emergency with a high mortality rate due to bleeding diathesis, which is due to a disseminated intravascular coagulation-like coagulopathy; APML is complicated enough to treat on its own and becomes particularly challenging when it occurs during pregnancy due to the complexities in managing both maternal and fetal health. APML is associated with a challenging therapeutic dilemma for pregnant women, and there is a risk of fetal malformations and developmental abnormalities caused by exposure to chemotherapy. A 31-year-old woman at 29 weeks of gestation presented with a 3-week history of fatigue. Complete blood count revealed pancytopenia, and further evaluation confirmed a diagnosis of APML. Due to her severe thrombocytopenia and associated pregnancy risks, ATRA therapy was initiated, and a primary Cesarean section was performed at 31 weeks 3 days of gestation to mitigate maternal and fetal complications. After delivery, arsenic trioxide was added to the treatment regimen, resulting in a favorable response. In this case report, we discuss clinical decisions and therapeutic interventions and compare our patient's case with those found in the literature. This case highlights the importance of prenatal care and early intervention in improving outcomes for both mother and child.