BMJ Case Reports最新文献

Malignant pleural mesothelioma is a rare and aggressive tumour of the pleura, commonly linked to asbestos exposure. However, its diagnosis is challenging, especially without known exposure. We present the case of a woman in her early 70s with no history of asbestos exposure, who presented with progressive breathlessness and left-sided chest pain. Radiological assessment revealed a large pleural effusion and nodular pleural thickening. Malignant pleural mesothelioma was confirmed through histopathological analysis of biopsies obtained via medical thoracoscopy. The patient was initiated on a palliative chemotherapy regimen, underwent talc slurry pleurodesis for recurrent effusion, and is currently under follow-up. This case emphasises the importance of a high index of suspicion for malignant pleural mesothelioma in patients with unexplained pleural effusion, even in the absence of typical risk factors, and the need for a timely diagnosis due to the disease's dismal prognosis.

A toddler presented with a 6 week history of progressively worsening ataxia, weight loss and loose stool. There was no developmental regression, history of fever or foreign travel. Extensive investigation, including cerebrospinal fluid studies and neuroimaging, were inconclusive. In coeliac screen, the endomysial antibodies were positive with above tenfold elevation of IgA TTG from normal limit, making the diagnosis of coeliac disease (CD). The association of CD with neurological symptoms in our case led to the clinical impression of gluten ataxia. She was started on gluten free diet and had complete symptom resolution in over 4 weeks' time since the start of gluten-free diet. Although common in adults, it has not been reported in toddlers, expanding the differential diagnosis of ataxia.

Parameatal urethral cysts are rare, benign congenital abnormalities of the urethra, usually presenting in early childhood. Although often asymptomatic, they may sometimes result in urinary flow disturbances, difficulties during sexual intercourse or cosmetic concerns. Here, we present two cases of parameatal urethral cysts in males, diagnosed relatively later in life: one in a young adult in his early 20s and the other in a mid-adolescent. The young adult sought treatment for urine splaying and challenges with sexual intercourse, whereas the adolescent was primarily concerned about the cosmetic appearance of the cyst. Both cases were treated with surgical excision, considering the optimal approach according to the literature. Histopathological examination revealed that the cyst walls were lined with stratified squamous epithelium in both instances. Follow-up showed excellent cosmetic results, with no recurrence or voiding difficulties.

We present a case of an acute dystonic reaction (ADR) following the two-injection start of aripiprazole once-monthly (AOM) in a patient who previously tolerated equivalent doses of oral aripiprazole (20 mg daily). The ADR occurred two times within 3 weeks of the two-injection start and was effectively treated with benztropine each time. The patient tolerated maintenance treatments of AOM 400 mg without recurrent ADR. A key risk factor in this patient was a prior ADR to a different antipsychotic. We also speculate on the potential roles of strenuous physical activity and infection in increasing the sensitivity to the two-injection initiation regimen compared with the conventional one-injection start. The two-injection start of AOM has been approved by regulatory bodies on the basis of population pharmacokinetic modelling. Our case may, therefore, identify a new safety concern with this alternative initiation option that was not captured in the modelling.

Arcuate line hernias (ALHs) are rare intraparietal hernias, with a prevalence ranging from 1.62% to 2%. These hernias occur at the arcuate line (AL)-a significant anatomical transition zone where the posterior lamella of the internal oblique and transversus abdominis aponeurosis shift from contributing fibres to the posterior sheath to the anterior sheath. Uniquely, ALHs do not present with a palpable defect. Although typically asymptomatic, incarceration and strangulation have been reported. Presently, there is no consensus regarding the optimal repair technique for ALHs, which pose a specific challenge in surgical repair due to the absence of a fascial edge to suture to below the AL, as commonly performed in other abdominal hernia repairs. We report an ALH repaired laparoscopically with transfascial sutures and intraperitoneal onlay mesh. Preoperative findings, imaging, anatomical considerations, and tailored surgical approach are discussed, complemented by an extensive review of the literature.

We present two cases of suspected intramural pregnancy after failed intervention for 'miscarriage' of an initially presumed normally sited pregnancy. The diagnosis of intramural pregnancy was assumed retrospectively after taking into consideration the whole clinical picture. These cases illustrate the difficulty in early diagnosis and further confirmation, and the need for a high index of suspicion in case of failed standard management for miscarriage.

Thyroid storm is a rare and life-threatening endocrine emergency. This complication is typically seen in women with a history of thyroid disorders triggered by a stressor such as surgery, trauma or severe illness. In pregnancy, there is significant fetal morbidity including preterm birth or fetal death. We present a case of thyroid storm in the second trimester precipitated by hyperemesis gravidarum and gestational transient thyrotoxicosis which was complicated by maternal collapse, miscarriage and cardiomyopathy.

Hereditary multiple exostoses (HME) is an autosomal dominant condition with variable penetrance. As per Dr Waller's audit of the Leeds regional bone tumour registry, 90 primary bone tumours of the thoracic skeleton were recorded, accounting for 4.5% of all cases in the registry. Osteochondromas represent 8% of rib tumours and approximately 50% of benign rib tumours. The patient presented with a chronic swelling in the right supraclavicular region with restricted shoulder motion and was diagnosed with osteochondroma of the first rib after evaluation. Surgical management by excision of the first rib tumour was done. Excision of the osteochondroma in the concerned case showed drastic symptomatic relief with complete recovery in range of motion. The hypothesis regarding common association of rib osteochondroma with a syndromic condition, namely HME, was also found to be fitting in the given case.