BMJ Case Reports最新文献

This article presents a female patient in her 40s who presented with a tender violaceous bump on her upper right lip. Our primary differential diagnosis was an arteriovenous malformation. Punch biopsy revealed the lesion to be an angioleiomyoma (ALM). The punch biopsy was sufficient for the complete removal of the lesion, and the lesion did not recur to date. There were no complications. We discuss the dermatoscopic description of an ALM and its clinical picture.

Myasthenia gravis is an autoimmune disorder characterised by autoantibodies directed against postsynaptic receptors of the neuromuscular junction. Muscle-specific tyrosine kinase (MuSK) myasthenia gravis is a subtype of myasthenia gravis containing antibodies specific to the MuSK subunit of the motor endplate. MuSK myasthenia gravis tends to display a severe clinical course, and most patients are refractory to treatment. Paediatric MuSK myasthenia gravis is exceedingly rare and is typically managed with pyridostigmine, corticosteroids and intravenous immunoglobulin or plasmapheresis for acute crisis control. This report discusses a case of a 4-year-old girl diagnosed with MuSK myasthenia gravis who was treated with rituximab. She is one of the youngest children in the literature to receive rituximab for this condition, and she continues to show favourable outcomes. This case demonstrates the safety and efficacy of this treatment in paediatric patients diagnosed with MuSK myasthenia gravis.

Vesicouterine fistula (VUF) is a rare complication following caesarean sections, often presenting with the classic triad of Youssef syndrome (urinary incontinence with cyclic haematuria (menouria) and amenorrhoea) but sometimes without typical symptoms. We report a case of a woman in her early 30s who developed VUF after an emergency lower segment caesarean section, complicated by necrotising soft tissue infection (NSTI) of the left forearm. One week post-surgery, she presented with NSTI symptoms and haematuria, which were managed with broad-spectrum antibiotics and debridement. During her hospital stay, she experienced persistent urinary incontinence and burning micturition. Evaluation of these symptoms revealed acute intestinal obstruction, and a contrast CT indicated vesicouterine communication. Surgical exploration confirmed a perforated uterus with possible retained placental tissue, and a VUF. Subtotal hysterectomy and bladder repair were performed, and her recovery was smooth. This case underscores the importance of considering VUF in patients with post-caesarean urinary symptoms, despite its rarity.

This report presents the case of a girl in early adolescence with symptoms suggestive of Papillon-Lefèvre syndrome (PLS) who remained undetected with poorly managed periodontitis until the advanced stage of alveolar resorption, leading to multiple tooth loss due to periodontitis. All remaining teeth had grade III mobility and negligible alveolar support, necessitating extraction. Conventional complete dentures were provided for functional and aesthetic rehabilitation. The literature review conducted to evaluate various dental treatment strategies and their outcomes for patients diagnosed with PLS at the deciduous or mixed dentition stage indicates that periodontal debridement with regular supportive periodontal therapy, antibiotic regimens and oral hygiene maintenance reinforcement can preserve teeth until late adolescence.

This case report details a case of probable seronegative autoimmune encephalitis (AE) secondary to either an ovarian teratoma or a uterine smooth muscle tumour of uncertain malignant potential (STUMP). AE is a neurological disorder often associated with specific autoantibodies. However, cases can occur without identifiable antibodies, necessitating a broader diagnostic approach. We present a woman in her 30s who exhibited sudden-onset acute behavioural disturbance and psychiatric symptoms. Initial investigations, including both infective and autoimmune screening, returned negative. Further investigations revealed an adnexal mass and raised ovarian tumour markers. Both an ovarian teratoma and a uterine STUMP were resected. Postoperatively, the patient demonstrated significant clinical improvement, with resolution of neurological symptoms and normalisation of cognitive function.

Epstein-Barr virus (EBV) affects over 90% of the global population and has been linked to several autoimmune disorders. This report describes a patient with EBV-associated hepatitis who subsequently developed aplastic anaemia, pernicious anaemia and autoimmune thyroiditis. The patient was treated with an immunosuppressive regimen with gradual improvement in his pancytopenia and autoimmune thyroiditis. This report highlights the importance of a comprehensive evaluation and close monitoring of patients presenting with acute or recent EBV infection. Clinicians are urged to recognise autoimmune sequelae, as early intervention can be life-saving.

Infant botulism is a rare but life-threatening neuroparalytic syndrome caused by intestinal colonisation of Clostridium botulinum resulting in a symmetrical descending flaccid paralysis. This gram-positive, rod-shaped anaerobic bacillus is universally found in soil with previous links to ingestion of honey and dust contaminated with C. botulinum spores. We present a case of a baby boy with this rare condition eventually linked to dust on a rural outback property. This young patient was ventilated for 90 days. Initial serology for botulism toxin was negative, although C. botulinum spores were eventually grown in the stool. The patient did not receive early treatment with Human Botulism Immune Globulin Intravenous (BIG-IV) as there was a low index of suspicion and a delay in obtaining a stool sample for nearly 6 weeks due to constipation. This case highlights the importance of early treatment with BIG-IV when clinical features and environmental conditions in the remote Australian outback favour persistence of C. botulinum spores in soil without awaiting confirmatory tests.

Idiopathic inflammatory myositis (IIM) is a heterogeneous group of immune-mediated diseases that mainly affect the skeletal muscles and skin. This case report narrates the story of a middle-aged man who presented with fever, weight loss, muscle weakness and skin rash and was treated elsewhere for probable dermatomyositis with steroids, methotrexate and rituximab. He presented to our facility with persistent fever and hyperpigmented skin rash. Detailed re-evaluation ultimately led to the final diagnosis of haemophagocytic lymphohistiocytosis due to visceral leishmaniasis. He was treated with liposomal amphotericin B. The patient responded well to treatment and did not require further immunosuppression during follow-up. This case highlights the importance of carefully recognising atypical findings to differentiate the IIM from its mimics, particularly infections in endemic areas.

Since the onset of the COVID-19 pandemic, the incidence of partner-violence against women in several countries including developing countries in North America has worsened. In response, international and national institutions have recommended the introduction of healthcare protocols for women survivors of intimate-partner violence against women. This article presents the case of a woman who went to an emergency department seeking medical and psychological care for the intimate partner violence she experienced. It documents the physical and psychological conditions detected, the psychosocial interventions provided and the systematic factors that perpetuate revictimisation and impede access to legal protection and safety for women survivors of violence. Drawing on the conclusions reached in the presented case study, as well as recommendations extracted from international guidelines and research literature, the authors propose a protocol for the assessment, diagnosis and treatment of survivors of intimate partner violence seeking medical care in an emergency department.

Ovarian inguinal herniation is a rare clinical entity. It can be safely managed laparoscopically, even in patients with concurrent gynaecological malignancies requiring radical hysterectomy.We present the case of a middle-aged woman admitted for severe anaemia and progressive weakness. Imaging revealed endometrial cancer and a right inguinal hernia containing an 8 cm lesion of indeterminate origin. MRI identified strangulated ovarian tissue within the hernia, and histopathology confirmed a low-grade endometrioid adenocarcinoma.The patient underwent a planned laparoscopic procedure, including radical hysterectomy, sentinel lymph node biopsy and simultaneous inguinal hernia repair. The hernia was repaired using the transabdominal preperitoneal approach after excision of the right adnexa, with polyvinylidene fluoride mesh fixation. The patient experienced an uneventful recovery and was discharged on the second postoperative day.Histopathological analysis confirmed low-grade endometrioid carcinoma with clear margins and metastasis in two lymph nodes, demonstrating the feasibility of managing both conditions concurrently.