BMJ Case Reports最新文献

A patient of advanced maternal age with infertility underwent assisted reproductive technology treatment, followed by a single euploid embryo transfer in a hormonal replacement therapy frozen cycle. The implanted embryo resulted in a thoracophagus conjoined twin pregnancy, joined at the thorax, and was diagnosed at 11 weeks. The pregnancy was terminated. This is the first case of conjoined twins resulting from a euploid embryo transfer in a frozen cycle.

Hypertriglyceridaemia is a well-documented cause of pancreatitis. Although rare, pancreatitis can result in life-threatening complications such as atypical haemolytic uremic syndrome (aHUS) and secondary haemophagocytic lymphohistiocytosis (sHLH). Our case presents a female in her late 30s with right upper abdominal pain, elevated triglycerides and lipase levels in the background of an undiagnosed genetic hypertriglyceridaemia (HTG). These findings are consistent with the diagnosis of HTG pancreatitis. Her condition deteriorated a week following admission with the development of rhabdomyolysis and aHUS characterised by haemolysis, progressive renal failure and thrombocytopenia. Unremitting fevers ensued during the course of her illness and prompted the diagnosis of sHLH. She was treated with eculizumab and glucocorticoids with eventual resolution of the disease process and restoration of her renal function. Notably, a subsequent aHUS genetic panel returned negative indicating a low risk of further relapse.

A male infant presented with progressive abdominal distension, diarrhoea, fever and respiratory distress. Examination revealed hepatosplenomegaly, doll-like facies, thin extremities and oral/perianal rash. His history included recurrent pneumonia. By day six, he developed severe metabolic acidosis with elevated lactate, requiring mechanical ventilation. Despite antibiotic therapy, he suffered persistent infections including sepsis, UTI and ventilator-associated pneumonia. Genetic testing confirmed glycogen storage disease type Ib (GSD-Ib), identifying a homozygous splice site variant in intron 9 of the SLC37A4 gene. This case highlights the immune dysfunction-neutropenia and neutrophil impairment-associated with GSD-Ib, contributing to increased infection susceptibility and poor response to treatment. Genetic counselling and prenatal testing were recommended.

Atrial fibrillation (AF) is a cardiac arrhythmia most prevalent in older age groups and with underlying structural heart disease. However, it can occasionally present in younger, otherwise healthy individuals, particularly those involved in intense physical exertion. This case describes an early adolescent male paediatric athlete with no significant medical history who experienced a sudden episode of sharp, left-sided chest pain, dizziness and palpitations during basketball practice. His symptoms resolved spontaneously within minutes. A 12-lead ECG revealed an irregularly irregular rhythm, with baseline tachycardia of 110 beats per minute, consistent with a diagnosis of AF.

An adolescent female patient presented to the Emergency Department of a large tertiary hospital in Ireland, with a 1-day history of chest and left axillary pain, and a 5-day history of productive cough, fever, reduced oral intake and lethargy; no previous medical history, sick contacts or recent travel. Vaccinations were up to date. Symptomatology, raised inflammatory markers, radiographic findings, coupled with relevant auscultatory findings, led to a diagnosis of community-acquired pneumonia. Less than 24 hours after presentation, Neisseria meningitidis was isolated from a blood culture, prompting patient isolation and commencement of high-dose ceftriaxone. Close contacts received prophylaxis, and public health authorities were notified. Meningococcal pneumonia, although infrequently seen in adults, has been reported in the paediatric population to date only rarely. This case serves as a reminder that meningococcal disease is notifiable, requiring prompt reporting to public health authorities, patient isolation and prophylaxis for close contacts. It also highlights meningococcal pneumonia as a cause of paediatric pneumonia, even in fully vaccinated, immunocompetent children, and the importance of obtaining blood samples for culture before commencing antibiotic therapy to maximise microbiological confirmation.

Topical steroid withdrawal (TSW) is a serious and often under-recognised dermatological condition. It is an adverse reaction to prolonged use of topical corticosteroids (TCS), which may occur following tapering or sudden cessation of treatment. TCS are widely used in the therapeutic management of various dermatological conditions, demonstrating notable efficacy in treating conditions such as atopic eczema and psoriasis. However, it is now recognised that prolonged use of TCS can lead to the development of TSW. TSW is characterised by the skin's dependence on exogenous steroids, with symptoms emerging when the skin becomes less responsive to treatment; when TCS are tapered or after they are discontinued. Common symptoms of TSW include burning, itching, erythema and skin thinning, which can extend beyond the original areas of steroid application.As public awareness of TSW continues to grow, the condition has also emerged as a pressing focus in dermatological research. Despite these advancements, the underlying pathophysiology of TSW remains intricate and only partially understood. Diagnosis poses a significant challenge due to the highly variable clinical presentations, emphasising the critical need for timely recognition. Early and accurate recognition not only prevent potential mismanagement but also ensure that patients receive the comprehensive support necessary to navigate this often-debilitating condition.This report presents and dissects a clinical case of TSW and includes a detailed account from a TSW patient over a period of 22 months. The report aims to highlight the complexities involved in diagnosing and managing the condition, emphasise the necessity for heightened awareness among clinicians and encourage the development of tailored interventions in clinical practice to address the unique challenges posed by TSW.

This case report describes a patient with GATA-2 deficiency who underwent a successful haematopoietic stem cell transplantation (HSCT) despite an active disseminated non-tuberculous mycobacteria (NTM) infection. This case provides a blueprint on how to successfully carry out a HSCT in GATA-2 patients with disseminated NTM infection.

Dysphagia in Parkinson's disease (PD) may lead to medication or 'pill retention', compromising drug delivery and mimicking other pathology on imaging. We report an octogenarian with advanced PD who presented after an unwitnessed fall, throat pain, hoarseness and cough when swallowing. A CT of the neck suggested a soft tissue mass in the piriform recess. Endoscopic evaluation instead revealed a large collection of retained levodopa tablets above the epiglottis with active aspiration. Management with crushed medication in thickened feeds, allied-health involvement and palliative-focused care was instituted; the patient died several weeks later due to an ischaemic stroke. This case highlights that (1) retained oral PD medications can present as a suspicious neck mass, (2) pill size and formulation must be tailored when dysphagia is present, and (3) early dysphagia screening and multidisciplinary management in PD patients are essential to prevent motor 'off' periods, aspiration and misdiagnosis.

17-beta hydroxysteroid dehydrogenase-3 enzyme is an enzyme expressed almost exclusively in the testes; it plays a crucial role in gonadal differentiation by catalysing the conversion of androstenedione (Δ4) to testosterone (T). The enzyme is encoded by the 17-B-hydroxysteroid dehydrogenase-3 (HSD17B3) gene. Mutations in this gene result in undervirilisation of the external male genitalia. We present a case of a child born with ambiguous genitalia. The gonads were palpable in the inguinal canal bilaterally and their presence was confirmed by ultrasound. This raised the suspicion of 46XY disorder of sex development. Initial biochemical investigations showed a low T/Δ4 ratio, which normalised following human chorionic gonadotropin stimulation, supporting the diagnosis of a steroidogenic defect. Due to the initially very low ratio, genetic testing was pursued and revealed a homozygous mutation in the HSD17B3 gene, c.608C>T (p.Ala203Val) near exon 9. This variant has been reported only once previously in the literature.

Chronic non-bacterial osteomyelitis (CNO) is a rare, autoinflammatory bone disorder that primarily affects children and adolescents. Bone pain is its hallmark, though other symptoms may occur. The gradual onset and variable presentation make CNO difficult to diagnose and can delay treatment. Notably, systemic signs such as fever or weight loss are recognised but less common manifestations of the disease and are rarely the initial complaint.We report an adolescent male with two weeks of daily fevers, rigours, night sweats, headaches and weight loss. Bone pain appeared later, intermittently affecting multiple joints. Ultimately, MRI and bone biopsy results supported an autoinflammatory process. Symptoms and inflammatory markers improved with non-steroidal anti-inflammatory drugs, supporting the diagnosis of CNO.This case emphasises the atypical presentation and highlights the need to consider CNO in children with prolonged fever of unclear origin, even when bone pain is not the presenting symptom.