BMJ Case Reports最新文献

Laparoscopy is frequently used for the minimally invasive treatment of various gynaecological pathologies. Compared with laparotomy, laparoscopy is associated with faster recovery, better incision cosmesis, shorter hospital stays and lower postoperative pain and complications. Vulvar and/or labial oedema is an exceptionally rare postoperative complication of laparoscopy, and in this context, we present the case of a patient who developed unilateral vulvar oedema several hours after an uncomplicated laparoscopic ovarian cystectomy. The patient was managed expectantly, and she made a full recovery within 24 hours. Postlaparoscopic vulvar oedema occurs most commonly after ovarian cystectomy, although it has been described after laparoscopic presacral neurectomy and bilateral salpingectomy. The exact aetiology of this complication remains unclear; however, proposed mechanisms include a patent canal of Nuck or passage of fluid through the subcutaneous tissue to the most dependent area.

We present a case about a man in his 70s who was admitted to the emergency department, haemodynamically unstable and with complaints of chest pain and dyspnoea. A bedside transthoracic echocardiography showed enlargement of the aorta and pericardial effusion, and a subsequent CT of the aorta showed acute type A intramural haematoma (IMH). Emergency surgery was not possible due to comorbidities, and a wait-and-watch strategy (optimal medical therapy, with blood pressure and pain control and repetitive imaging) was selected. He was hospitalised for a total of 16 days, during which his condition stabilised. A 3-month follow-up CT showed complete regression of both the IMH and haemopericardium.

Intragastric balloons (IGBs) are an increasingly popular management strategy for obesity. The Allurion IGB is a swallowable balloon that spontaneously degrades after residing in the stomach for 4 months. We describe a technique for safe retrieval of an Allurion IGB using endoscopic accessories available at hospitals without a dedicated bariatric service. Nausea and pain are often encountered following IGB insertion. Infrequent but serious adverse events have been noted by NICE. As it does not normally require endoscopic removal, a specific endoscopic kit has not been designed for the Allurion IGB. Devices designed for other types of IGBs have previously been used to extract the Allurion balloon. We achieved a similar outcome using an endoscopic ultrasound (EUS) aspiration needle. Although general anaesthetic for IGB removal remains contentious, we felt this represented the safest strategy given the risk of aspiration as well as the lack of prior experience at our centre.

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare congenital condition characterised by abnormal development of the pulmonary vasculature. It manifests as severe, refractory hypoxaemia and persistent pulmonary hypertension of the newborn (PPHN), often resulting in rapid progression to respiratory failure and early death despite aggressive interventions. Diagnosis relies on distinct histological features. We present the case of a term neonate born to parents with a history of third-degree consanguinity. The mother, a primigravida, delivered a male neonate vaginally with meconium-stained amniotic fluid. Despite a normal antenatal course, the neonate developed severe respiratory distress shortly after birth, which progressed rapidly. The baby exhibited severe hypercarbia and progressive hypoxia, with clinical and echocardiographic parameters suggestive of PPHN. Aggressive treatment, including high-frequency oscillatory ventilation, surfactant administration, vasodilators and inotropes, did not improve the condition. Persistent severe respiratory acidosis and worsening hypoxia ensued, ultimately leading to death due to refractory respiratory failure. A lung biopsy performed after the neonate's death confirmed ACD/MVP as the cause. Initially suspected as PPHN secondary to meconium aspiration syndrome, poor response to treatment redirected focus to congenital lung disease. This case emphasises the importance of recognising ACD/MPV in neonates with severe respiratory distress and pulmonary hypertension unresponsive to standard treatments. Early lung biopsy, despite potential risks, can confirm the diagnosis, guide prognosis and avoid ineffective therapies.

Central nervous system (CNS) manifestations are seen in two-thirds cases of familial haemophagocytic lymphohistiocytosis (HLH). Isolated CNS-HLH is described as a rare entity characterised by isolated neuroinflammation without fulfilling diagnostic criteria for evidence of systemic inflammation in mutation-proven familial HLH due to additional genetic modifiers. We describe one such female preschooler who presented to us with the fever of unknown origin spanning over a year and was a diagnostic dilemma. Only two out of the available seven criteria were fulfilled for systemic HLH in the index child. A neuroimaging study done as part of the investigation for seizure led to suspicion of CNS-HLH, and the final diagnosis was established by whole-exome sequencing, which revealed PRF1 mutation. Knowledge about isolated CNS-HLH will help keep it a differential diagnosis in cases where cerebrospinal fluid and neuroimaging findings may suggest a neuroinflammatory disorder. It may lead to early diagnosis and prompt therapy, thereby preventing long-term neurological sequelae.

Extramedullary haematopoiesis (EMH) refers to ectopic haematopoietic elements outside the bone marrow. Although it frequently occurs in the liver, spleen and lymph nodes, EMH presenting as a destructive lytic lesion of the sacrum with associated presacral soft tissue mass masquerading as malignancy has been scarcely reported. Imaging workup on a pregnant woman suspected of having haemolytic anaemia revealed a lytic destructive lesion involving the sacrum with homogeneously enhancing presacral soft tissue density mass. A preliminary diagnosis of primary sacral malignancy with liver and splenic metastasis was made; however, additional MRI workup revealed the presacral soft tissue component had similar signal intensity to the adjacent bone marrow, suggesting a haematological disorder like EMH. Whenever a sacral lytic lesion with associated soft tissue presacral mass is encountered, the diagnosis of EMH should be considered in addition to common malignancies involving the sacrococcygeal region. Moreover, MRI and biopsy efficiently diagnose atypical EMH and exclude malignancies.

The rise in stroke cases in young people should be of major health concern, given the extensive compilation of underlying causes not traditionally seen in older people, and the impact and longevity of complications. Cerebral venous sinus thrombosis (CVST) is a rare form of stroke with female predominance. The clinical manifestations of CVST can vary vastly, thus delaying diagnosis and leading to significant morbidity and mortality. Thrombosis induced by inflammatory bowel disease is well appreciated in the literature but not in acute clinical practice. We discuss the case of a young female whose acute presentation of headache and diagnosis of CVST led to the discovery of underlying Crohn's disease. It highlights the importance of recognising unusual presentations of systemic conditions and the role of multidisciplinary teams for accurate diagnosis and effective management.

An HIV-negative South African woman in her 50s presented to hospital with fatigue. She had no medical history and is a Jehovah's Witness. Her full blood count revealed macrocytic anaemia and severe thrombocytopenia. On smear review, there were ±66% blasts with no lineage discerning morphological features. Peripheral blood flow cytometry revealed a blast population that expressed B-cell (CD19 dim, cCD79a dim, CD10 dim, CD22 moderate), T/NK-cell (CD7) and myeloid markers (HLA-DR, CD33, CD117). However, antigen combinations did not fulfil the requirements for specific lineage assignment. The bone marrow aspirate and trephine biopsy were hypercellular with diffuse involvement of blasts. Myeloperoxidase positivity was subsequently confirmed on cytochemistry and immunohistochemistry. The final diagnosis was an acute myeloid leukaemia with expression of aberrant lymphoid markers and monocytic cytochemistry. Delays in lineage assignment can derail timely induction, shake patient confidence and postpone the doctor-patient treatment discussions. This is particularly important in already vulnerable populations.

A male patient in his 60s was admitted due to unexplained neutrophilic leucocytosis. Further diagnostic workup revealed a large gastric polyp with partial pyloric obstruction. Biopsy revealed numerous neutrophils surrounding atypical cells resembling Reed-Sternberg cells. The diagnosis of gastric Hodgkin's lymphoma was confirmed through immunohistochemistry. According to his disease stage and high cardiac risk, he was started on the GVP (gemcitabine, vinorelbine and prednisone) protocol. Following a partial response, he experienced disease progression and relapse with hepatic involvement, indicating relapsed and refractory disease. Therefore, he was started on nivolumab, which was the most suitable option, given his specific tumour microenvironment. In the light of this, we recommend a deeper understanding of the tumour microenvironment for each patient to guide effective treatment strategies. This is especially important in the era of advanced immunotherapies, such as programmed death-1 and programmed death-ligand 1 inhibitors and chimeric antigen receptor T-cell therapy.

Acanthocephala are known as thorny-headed worms and are common parasites in animals, but acanthocephaliasis in humans is rare, with limited medical literature available. Infections are acquired via direct ingestion of arthropod intermediate hosts. In this case report, a female toddler is evaluated for passage of a pseudosegmented worm in the stool, which was later identified as Moniliformis moniliformis She is treated with pyrantel pamoate with a resolution of worms in stool. This case report aims to expand knowledge surrounding infections by the Acanthocephala phylum and the nuances of identification and treatment.