Journal of Medical Cases最新文献

Durvalumab is an immune checkpoint inhibitor (ICI) of anti-programmed cell death protein 1 ligand antibody. ICI-combined chemotherapy has recently become a standard regimen for extensive-stage of small-cell lung cancer (ES-SCLC). SCLC is well known to be the most likely tumor associated with Lambert-Eaton myasthenic syndrome (LEMS), a rare autoimmune disease of a neuromuscular junction disorder. Although LEMS has been reported to be induced by ICI as immune-mediated adverse events, it remains unknown whether ICI can deteriorate preexisting paraneoplastic syndrome (PNS) of LEMS. Our rare case was successfully treated by durvalumab plus chemotherapy without exacerbation of preexisting PNS of LEMS. We report a 62-year-old female with ES-SCLC and preexisting PNS of LEMS. She started carboplatin-etoposide in combination with durvalumab. This immunotherapy achieved nearly complete response. However, multiple brain metastases were found after two courses of maintenance durvalumab. Her symptoms and physical examinations of LEMS improved despite of no significant change in compound muscle action potential amplitude in the nerve conduction study. The titer of anti-P/Q-type voltage-gated calcium channel (VGCC) antibody decreased from 1,419.2 to 263.5 pmol/L during the immunotherapy. In conclusion, ICI in combination with platinum doublet chemotherapy is still challenging but may be a treatment option for ES-SCLC patients complicated with PNS of LEMS.

Acute liver failure (ALF) is a rare condition that can have a variable clinical course and potentially fatal outcomes. Medication toxicity is a known etiology, however liver failure induced by amiodarone is rare and has been reported mostly in the setting of intravenous (IV) infusion. We present an 84-year-old patient who developed ALF after chronic use of oral amiodarone. The patient received supportive care and her symptoms improved.

Prevalence of brain arteriovenous malformation ranges from 0.14% to 0.6% according to various estimates. A large number of these patients remain asymptomatic. The most common presentation is due to brain hemorrhage. A 14-year-old girl presented to the pediatrician with erratic behavior issues and hallucinations. She was diagnosed by the pediatrician and mental health facility as having schizophrenia and bipolar disorder. Once she was transferred to our children's hospital, evaluation by a pediatric neurologist, computed tomography scan, magnetic resonance imaging, and laboratory workup including lumbar puncture confirmed a clinically isolated syndrome and frontal lobe arteriovenous malformation. Frontal lobe lesions including arteriovenous malformation in the frontal lobe can cause psychological symptoms and behavioral issues. We also discuss the differential diagnosis of acute demyelinating syndromes.

A 32-year-old woman of child-bearing age who initially underwent surgical laparoscopy for suspected ruptured ectopic pregnancy with elevated serum β-human chorionic gonadotropin (hCG) levels was unexpectedly found to have histologically diagnosed synchronous ovarian and endometrial endometrioid adenocarcinoma. She subsequently underwent another full completion staging surgery and adjuvant chemotherapy as she was unsuitable for fertility-sparing surgery. An elevated serum β-hCG level accompanied by clinical signs of acute abdominal pain, per vaginal bleeding, ultrasound features of abdominal free fluid in the pelvis and an adnexal mass warrants a high clinical suspicion for a ruptured ectopic pregnancy. However, it is important to recognize ovarian malignancy as a rare but differential diagnosis to suspected ectopic pregnancy in patients with acute abdomen. Fertility-sparing surgery may be considered for young patients seeking fertility, without compromising patient survival in women without synchronous gynecological cancers.

B-cell lymphoproliferative disorders are characterized by the accumulation of mature B lymphocytes in the bone marrow, lymphoid tissues, and/or peripheral blood. They can cause amyloid deposits in the lungs. In rare cases, lung nodules can be the first sign of this disorder. We present the case of an 89-year-old woman with stable shortness of breath and lung nodules on imaging. A positron emission tomography-computed tomography (PET-CT) scan showed the most intense hypermetabolic nodule in the patient's lung, which was 1.5 × 1.4 cm. A biopsy of this nodule showed amyloid material with trapped plasma cell infiltrate on microscopy. Congo red stain under polarizing microscopy showed apple-green birefringence, which is diagnostic for amyloidosis. Immunohistochemistry showed a mixture of kappa-positive and lambda-positive cells. B-cell gene rearrangement-clonal gene rearrangements were detected in the immunoglobulin heavy chain (IgH) gene and the kappa light chain (IGK). These findings suggest a B-cell lymphoproliferative disorder, such as a plasmacytoma or a marginal cell lymphoma with plasma cell differentiation. The patient was diagnosed with a B-cell lymphoproliferative disorder and pulmonary amyloidosis. Isolated amyloidosis in the lungs usually has a good prognosis, but it can be a sign of autoimmune diseases or B-cell lymphoproliferative disorders, as in this case. Early diagnosis of B-cell lymphoproliferative disorder can lead to successful treatment and prevents complications.

Uterine inversion may be puerperal or non-puerperal. Puerperal uterine inversion is a rare obstetrics complication, with an estimated incidence of 1 in 30,000 deliveries. The occurrence of non-puerperal uterine inversion is even rarer such that there is no good estimate of its incidence. It is challenging to make the diagnosis of non-puerperal uterine inversion and a high index of suspicion needs to be present. Malignancy is an uncommon cause for non-puerperal uterine inversion, but it is important to keep it in mind so as to counsel patients appropriately and prevent repeat surgery wherever possible. There are also unique complexities in the assessment of a virgo intacta patient which needs to be overcome through the use of different approaches in physical examination and imaging. In this case report, there is a unique interplay of multiple complicating factors in a virgo intacta patient presenting with abnormal uterine bleeding secondary to a malignant fibroid polyp that had prolapsed out of the vagina causing uterine inversion. She eventually required two open surgeries in the management of her condition.

In this case report, we present a case of antisynthetase syndrome which is a rare disease that can be easily missed, if not specifically looked for in adults, whose initial presentation is combination of myopathic and respiratory symptoms. In clinical practice, patients presenting with coronavirus disease 2019 (COVID-19) symptoms, whose computed tomography (CT) imaging is consistent with COVID-19, were accordingly isolated and treated as COVID-19 awaiting reverse transcription polymerase chain reaction (RT-PCR) results. However, there are many COVID-19 mimics on chest CT, which can make the CT-based diagnosis of COVID-19 unsafe.

Breast cancer is widely known as the most common cancer in women in the United States. If left untreated, it can have detrimental effects. If the breast cancer is aggressive in nature, it can metastasize to the lymph nodes, bones, liver, lungs, and brain. A rare location of metastasis is the leptomeninges, specifically the pia and arachnoid matter. This term is coined as leptomeningeal carcinomatosis. Its diagnosis can be challenging to make as patients can present with non-specific symptoms. We present the case of an elderly female with a prior history of breast cancer that was treated with 12 cycles of chemotherapy with paclitaxel, radiation to her left axilla, and daily anastrozole for 3 years who came into the emergency department for worsening confusion, urinary incontinence, and difficulty ambulating. Cerebral spinal fluid obtained from a lumbar puncture supported a diagnosis of leptomeningeal carcinomatosis.

Sarcoid-like granulomatosis is a unique immune-related adverse event (irAE) in cancer patients treated with immune checkpoint inhibitors (ICIs). This irAE is infrequent, reported to range from 2% to 22.2% of melanoma treated with ICI. In a case of granulomatosis localized in the lung, it is difficult to differentiate granulomatosis from cancer progression or metastases. Herein, we report a case of ICI-induced sarcoid-like granulomatosis of the lung, which was confusable with localized recurrence of the primary lung cancer. A 56-year-old woman with c-stage IIIA of pulmonary squamous cell carcinoma in the right lower lobe received chemo-radiotherapy with two courses of cisplatin and vinorelbine and concurrent thoracic irradiation, followed by 1-year durvalumab consolidation therapy. The tumor in the right S₆ grew and presented abnormal uptake by fluorodeoxyglucose positron emission tomography (FDG-PET), 1.5 years after durvalumab. Neither computed tomography (CT) nor FDG-PET found mediastinal and distant metastases. She underwent right lower lobe lobectomy. Histopathologically, the tumor and sampled lymph nodes contained no residue of carcinoma cells but presented diffuse epithelioid granuloma with infiltration of inflammatory cells, partial necrotic lesions and many multinucleated giant cells. In immunohistochemical stains, CD3⁺ and CD8⁺ T cells predominantly infiltrated, while there were few CD4⁺ T cells and a small number of CD20⁺ B cells. We followed her without steroid and other immunosuppressant drug. We should pay attention to the development of sarcoid-like granulomatosis as a rare irAE, which is difficult to be differentiated from cancer progression.

Pernicious anemia is an autoimmune disorder that is characterized by the presence of autoantibodies to intrinsic factor and parietal cells which results in the inability to absorb vitamin B12. It is the most common manifestation of vitamin B12 deficiency and accounts for 20-50% of cases. Disseminated intravascular coagulation (DIC) is a clinical condition that is a complication of another process which causes the activation of coagulation. A 63-year-old female with a history of hypothyroidism presented with a 1-month history of worsening fatigue, intermittent epigastric pain, nausea, vomiting, and diarrhea. Initial laboratory findings showed severe anemia and macrocytosis with a hemoglobin of 4.3 g/dL and a mean corpuscular volume (MCV) of 138 fL. There was also a significant elevation of the D-dimer, lactate dehydrogenase (LDH), and creatinine. She received three units of packed red blood cells (pRBCs) and fluid resuscitation. A vitamin B12 level was obtained which revealed a severe vitamin B12 deficiency (< 150 pg/mL). Additional workup showed seropositivity for anti-parietal cell antibodies and intrinsic factor blocking antibodies, and an esophagogastroduodenoscopy (EGD) biopsy yielded histologic findings consistent with autoimmune gastritis. She was treated acutely with daily intramuscular B12 injections with improvement in hematologic derangements and symptomatology. Arrested erythropoiesis can lead to apoptosis and the high proliferation of immature erythroblasts results in cells that are more susceptible to impaired deoxyribonucleic acid (DNA) synthesis and results in denatured DNA. Pernicious anemia manifesting as DIC has yet to be described in the literature. Here we describe an interesting case of pernicious anemia manifesting as early DIC resulting from arrest of erythropoiesis evidenced by the international society on thrombosis and hemostasis score of 5, diagnostic for DIC. Early recognition and treatment of this reversible etiology of DIC is essential to the improvement of patient outcomes.