BMJ Case Reports最新文献

Penile calciphylaxis is a rare but life-threatening manifestation of calcific uraemic arteriolopathy, most often seen in patients with end-stage renal disease (ESRD) on dialysis. Its diagnosis is frequently delayed, and its presence carries a poor overall prognosis. Given its rarity, treatment strategies and their efficacy have been understudied and may include observation, medical therapy, radical surgery or hyperbaric oxygen therapy. In this case, we describe a patient with ESRD presenting with a rapidly progressive penile lesion ultimately diagnosed as penile calciphylaxis. Our patient was ineligible for hyperbaric oxygen therapy and declined surgical management. Consequently, unlike many reported cases requiring surgical management nonetheless resulting in poor outcomes, our patient experienced lesional resolution with conservative therapy, specifically intravenous sodium thiosulfate and structured wound care with medical-grade honey, within 9 months after presentation. This case highlights a novel non-surgical approach to a difficult clinical situation and shows the potential efficacy and novelty of non-surgical management in select patients where penile calciphylaxis is diagnosed early in its course.

Bleeding from the umbilical stump is a common clinical presentation with varying aetiologies. A mild amount of bleeding often occurs at the time of cord separation. It is often benign; however, sometimes it may be due to an underlying congenital coagulation disorder, especially when in large amounts. Afibrinogenaemia is an uncommon bleeding disorder characterised by the complete absence or severe deficiency of fibrinogen, a vital protein crucial for the regulation of blood clotting. Its estimated prevalence is around 1 in 1 million newborns and is inherited in an autosomal recessive manner. We report a neonate who was diagnosed with congenital afibrinogenaemia and presented with significant bleeding from the umbilicus. The baby is well managed with fibrinogen replacement therapy. Timely identification and intervention proved pivotal in averting potentially life-threatening bleeding incidents in this neonate.

This case report demonstrates a paediatric patient with antineutrophil cytoplasmic antibody-associated vasculitis, most consistent with a diagnosis of granulomatosis with polyangiitis (GPA), who presented with extensive airway involvement. It highlights that, although rare, the potential occurrence of GPA can be clinically challenging.

This case highlights the intraoperative use of transoesophageal echocardiography (TOE) in a patient with blunt thoracic trauma presenting with haemodynamic instability. TOE identified tamponade physiology and aortic root laceration, prompting immediate surgical intervention. Isolated aortic root injury after blunt thoracic trauma is rare, and this case demonstrates the utility of intraoperative TOE in identifying this life-threatening pathology and guiding management in trauma care.

Postpartum reversible cerebral vasoconstriction syndrome (RCVS), also known as postpartum cerebral angiopathy, is an uncommon but potentially serious cause of thunderclap headache. Early diagnosis is challenging, and there may be a misdiagnosis due to non-specific clinical presentation and frequently normal initial imaging studies.We report a case of a primigravid woman in her early 30s who developed a sudden, severe holocranial headache on the fourth postpartum day, with no associated neurological findings. Initial head CT, CT angiography, cerebral CT venography and MRI showed no abnormalities. However, digital subtraction angiography (DSA), revealed multifocal segmental narrowing of intracranial arteries, with complete reversibility after 3 months, consistent with RCVS.The patient was treated with oral nimodipine and experienced gradual symptom resolution. There was no complication associated, with no recurrence so far.

Langerhans cell histiocytosis (LCH) is a rare clonal myeloid neoplasm with varied and often organ-specific manifestations. Hepatic involvement in adult LCH is rare and frequently results in delayed diagnosis due to its non-specific clinical and biochemical features. We describe the case of a woman in her late twenties who presented with intermittent upper abdominal discomfort, fatigue and weight loss. Despite extensive imaging, serological workup and initial liver biopsy, no definitive diagnosis could be established. Ultimately, diagnostic laparoscopy and histopathological examination with immunohistochemistry confirmed the diagnosis of multifocal hepatic LCH. This case highlights the importance of considering LCH in the differential diagnosis of unexplained hepatomegaly with cholestatic liver enzyme elevation and systemic symptoms. Early liver biopsy with appropriate immunophenotyping is critical for timely diagnosis and initiation of treatment.

A previously healthy Caucasian man in his 30s presented with a 9-week history of productive cough, fever and dyspnoea, initially treated as pneumonia with transient improvement. Examination revealed coarse right-sided crepitations and finger clubbing. Laboratory testing demonstrated persistent severe neutropenia and elevated inflammatory markers, while imaging showed persistent right middle lobe consolidation. Further history revealed recurrent respiratory infections, diarrhoea and poor dentition since childhood, with medical records showing possible neutrophil migration defect. The patient received 6 weeks of broad-spectrum antibiotics and granulocyte-colony stimulating factor, resulting in resolution of consolidation and modest neutrophil recovery. Acquired causes of immunosuppression were excluded through microbiological and immunological workup. Stool testing confirmed pancreatic exocrine insufficiency. Genetic testing identified a pathogenic heterozygous signal recognition particle-54 mutation, consistent with Shwachman Diamond-like syndrome. Given the risk of leukaemic transformation, the patient was referred for haematopoietic stem cell transplantation. This case underscores the need for a multidisciplinary approach to manage rare neutropenic syndromes.

Rudimentary horn pregnancy (RHP) is a rare form of ectopic pregnancy that poses significant risks if not recognised early, as rupture can result in severe maternal morbidity. Early diagnosis is both challenging and crucial. Ultrasound pattern recognition plays a central role in identifying RHP, with MRI serving as a valuable adjunct in suspicious cases. Here, we report a case of an unruptured RHP diagnosed in the early second trimester, following a failed medical termination attempt 6 days prior due to early fetal demise. We present a step-by-step ultrasound diagnostic approach, emphasising the importance of recognising this rare condition. In rare instances, as illustrated in this case, a large unruptured RHP may be misdiagnosed as an intrauterine pregnancy or another form of ectopic pregnancy. This underscores the need for clinicians to be familiar with atypical image findings. Accurate diagnosis and precise localisation of the pregnancy are essential for optimal management.

8%-25% of cases of pleural effusion remain undiagnosed after routine workup. Some of the causes for pleural effusion are less often considered as a differential diagnosis owing to their rarity. While not all require a pleural biopsy, it remains a valuable tool for the definitive diagnosis of uncommon pleural effusions and guides treatment decisions. This case exemplifies the value of timely intervention in uncovering an unconventional form of pleural amyloidosis. An elderly male presenting with right-sided pleural effusion. The patient underwent timely medical thoracoscopy and was subsequently diagnosed with AL amyloidosis. Following therapy, the patient demonstrated marked clinical improvement, with radiographic resolution of the effusion and a favourable haematologic response.

Here, we present a case of Bickerstaff's brain stem encephalitis secondary to suspected campylobacter infection. Diagnosis was based on the classical presentation; ophthalmoplegia, ataxia, reduced consciousness and hyperreflexia, exclusion of other pathology and was supported by MRI, cerebrospinal fluid and serological testing. Despite the strong association of anti-GM1 antibodies in campylobacter infection and subsequent Guillain-Barré syndrome, this is the first reported case of brainstem encephalitis secondary to campylobacter infection demonstrating positive antiganglioside IgG GM1 serology.