SAGE Open Medical Case Reports最新文献

Leukemia cutis (LC) is an uncommon cutaneous manifestation of leukemia that involves the leukocytic infiltration of the skin. LC typically presents after a diagnosis of leukemia has been made but may rarely appear before confirmation of the disease. In this report, we describe the case of an 86-year-old male presenting with LC prior to a clear diagnosis of leukemia in the blood. This case highlights the importance of early recognition of LC lesions, to ensure earlier detection of the neoplasm, particularly when they present as the first sign of disease.

Extramedullary hematopoiesis is a phenomenon that occurs in conditions of ineffective bone marrow function. In the context of thalassemias, extramedullary hematopoiesis is more frequently observed in beta-thalassemia intermedia patients, with thoracic paravertebral extramedullary hematopoiesis being relatively common. However, extramedullary hematopoiesis-related pleural effusion is a rare occurrence. Herein, we report a 43-year-old female patient, who presented with worsening dyspnea and a massive pleural effusion. Her medical history includes beta-thalassemia intermedia with known paravertebral extramedullary hematopoiesis sites and a laparoscopic cholecystectomy a month ago. The absence of pleural fluid from recent prior imaging pointed toward the rapid accumulation of fluid. After a thorough diagnostic workup, we attributed the effusion to thoracic paravertebral extramedullary hematopoiesis. The patient was effectively treated with drainage of the effusion after thoracentesis and antibiotics. On follow-up, she had a stable radiographic image without pleural fluid recurrence. Extramedullary hematopoiesis-associated pleural effusion should be in the differential diagnosis of pleural effusion, in cases of compatible medical history.

Arthritis in children has several causes, including infectious, inflammatory, and infiltration of malignant cells, and it is important to differentiate them as soon as possible. We present the case of a 3-year-old boy who was initially diagnosed with septic arthritis secondary to joint pain, swelling, and high fever. Despite appropriate antibiotic therapy, the patient's symptoms persisted, leading to an eventual diagnosis of systemic juvenile idiopathic arthritis (sJIA). This case highlights the importance of distinguishing between septic arthritis and sJIA because early misdiagnosis can lead to delayed treatment and potential complications.

Lupus panniculitis is a chronic subtype of cutaneous lupus erythematosus. It typically presents as tender, firm subcutaneous nodules on the proximal extremities, face, and/or trunk and can leave behind disfiguring scarring or lipoatrophy in the post-inflammatory phase. When a patient presents with physical or emotional distress secondary to lupus panniculitis-induced lipoatrophy, there are variable data on treatment with autologous fat transfer and injectable fillers. We present the case of a 37-year-old female presenting with lipoatrophy of the right cheek, after 2 years of quiescent disease, undergoing successful volume restoration with injectable hyaluronic acid filler.

Yolk sac tumors (YSTs) of the ovary are the second most common primitive germ cell tumors accounting for 20% of malignant ovarian germ cell tumors. They are derived from primitive germ cells of the embryonic gonad and can undergo germinomatous or embryonic differentiation. They commonly affect women in the reproductive age group but have a favorable prognosis due to chemosensitivity. This is a case of pure YST of ovary in a nulliparous 25-year-old woman with a past history of endometriotic cysts.

This article describes the case of a patient with CHARGE syndrome. The clinical data of the patient as well as the whole-genome sequencing results of the child and parents were retrospectively analyzed to determine the pathogenicity of the gene mutation. Genetic testing revealed a heterozygous mutation of the CHD7 gene NM_017780.4: C.4853G >A (P.TP1618ter) in the child, which was identified as a de novo pathogenic mutation. Through this case, we conclude that genetic testing is crucial for accurate diagnosis of deafness. Moreover, paying attention to hearing screening in childhood and strengthening the cognitive level of diagnosis and treatment of syndromic deafness in multiple disciplines can effectively realize early detection, early diagnosis, early intervention, and early rehabilitation of syndromic deafness.

Exposure to certain drugs can trigger new-onset psoriasis or flaring of existing psoriatic disease. The clinical presentation of drug-induced psoriasis can vary, and although there are features suggestive of drug-induced psoriasis, there are currently no standardized criteria to differentiate it from conventional psoriasis. Patients may present with localized psoriasiform plaques, or variants such as palmoplantar, nail disease, or widespread erythroderma. Histopathology of drug-induced psoriasis can also be indistinguishable from conventional psoriasis but features suggestive of drug-induced include lack of suprapapillary epidermal thinning, a limited number of Munro microabscesses, and the presence of eosinophils and/or a lichenoid reaction pattern. We report a case of suspected drug-induced psoriasis due to dapagliflozin (Farxiga) in a 76-year-old man. Evidence indicating this to be a probable drug-induced reaction includes the sudden onset of symptoms; atypical pathology with the presence of eosinophils; and clearance of the lesions upon discontinuation of the suspected causative drug.

Antipsychotic-induced akathisia is a distressing movement disorder marked by intense internal restlessness and an urge to move. This report discusses a 44-year-old man with a diagnosis of schizophrenia who developed severe, treatment-resistant akathisia after taking haloperidol, a first-generation antipsychotic. Standard treatments for antipsychotic-induced akathisia, including benzodiazepines (Clonazepam) and benztropine, failed to alleviate the patient's persistent symptoms, causing considerable distress. However, the introduction of mirtazapine at a low dose of 15 mg led to substantial improvement, as indicated by a gradual reduction in the Barnes Akathisia Rating Scale score from 8 to 0 and improvements in mood, mobility, and daily activity participation. This case highlights the potential efficacy of mirtazapine in treating severe, resistant akathisia, adding to its established use in antipsychotic-induced akathisia management and contributing to the limited literature on its application in patients unresponsive to other conventional treatments.

Five cases of non-neuronal granular cell tumours of the oral cavity are documented in the literature. Additionally, one case of a non-neuronal granular cell tumour with features of malignancy was described. A malignant granular cell tumour is a rare neoplasm and counterpart of a benign granular cell tumour. The cell of origin of the granular cell tumour was reported from the Schwann cell. Some granular cells originated from non-neural components and were negative for immunohistochemistry S100. Immunohistochemistry is required to confirm further and categorize ulcero-proliferative and erythematous polypoidal oral cavity lesions. These lesions can mimic squamous cell carcinoma, mucoepidermoid carcinoma and pyogenic granuloma in morphology. We are presenting a rare case of malignant granular cell tumour of non-neuronal origin on the floor of the mouth. To our knowledge, it is the first case of a malignant non-neuronal granular cell tumour.

Developmental and epileptic encephalopathies (DEEs), such as SYNGAP1-related DEE, are marked by severe developmental delays and pharmaco-resistant seizures due to specific genetic variants. This case report focuses on a 9-year-old male with a de novo SYNGAP1 variant (c.1267del, p.Tyr423Metfs*17), illustrating the diagnostic and treatment challenges. Initially experiencing developmental delays and later, misdiagnosed tics, he was diagnosed with epilepsy with eyelid myoclonia at seven. His case includes key SYNGAP1 encephalopathy symptoms: intellectual disability, behavioral issues, and generalized epilepsy resistant to antiseizure medication. The identification of a specific variant adds to our knowledge, suggesting the necessity of considering SYNGAP1-related DEE for unexplained neurodevelopmental delays and seizures. This case underlines the need for a personalized treatment approach focusing on quality of life and symptom management, advancing our understanding and treatment practices for genetic developmental and epileptic encephalopathy.