BMJ Case Reports最新文献

Re-expansion pulmonary oedema (RPE) is an uncommon complication that occurs when a collapsed lung suddenly re-expands, resulting in an osmotic shift of fluid from the blood vessels into the air spaces within the lungs. This condition can develop following thoracocentesis or intercostal chest drainage. We report two cases of RPE that developed after varying volumes of pleural drainage and at different times. Both patients responded well to non-invasive ventilation and hydrocortisone, making a full recovery. Early detection is crucial as RPE is associated with higher mortality rates, but a positive prognosis is attainable with prompt identification and intervention.

Neonatal adrenal haemorrhage affects approximately 0.17%-0.21% of babies, although, usually, it remains asymptomatic, and therefore, the exact incidence is probably greater. The increased vascularity and relatively large size of the adrenal glands in neonates increases their vulnerability to haemorrhage during labour. There have been few cases that have presented with bowel obstruction.A term neonate was admitted with bilious vomiting, dehydration and mottled skin. He was afebrile but hypoglycaemic. Dark green aspirations were present on placement of a nasogastric tube, and emergent upper gastrointestinal contrast study demonstrated failure of contrast to pass and deviation of the duodenum. Together these features raised concern of malrotation with volvulus promoting surgical exploration. Intraoperatively, a left suprarenal mass was discovered, causing bowel obstruction. An ileostomy was created, and a biopsy was taken. Adrenal haemorrhage was diagnosed, which is an extremely rare cause of bowel obstruction. Serial ultrasound scans have been done since, showing reduction of the haemorrhage and his ileostomy has been reversed.Adrenal haemorrhage is rarely reported to cause bowel obstruction. A neonate with bilious vomiting and an abnormal contrast may represent malrotation; however, adrenal haemorrhage is an uncommon, but important, differential to consider in these scenarios.

Meckel's diverticulum is a common congenital anomaly of the gastrointestinal (GI) system, which remains asymptomatic unless some complications occur. Littre's hernia is a rare complication of Meckel's diverticulum, where it herniates into the hernial sac. It is difficult to diagnose this condition preoperatively. Strangulation and incarceration are common, which may lead to necrosis and perforation of Meckel's diverticulum. In this report, we describe the successful management of a boy in his early childhood presenting with an irreducible and strangulated right inguinal hernia, which turned out to be Littre's hernia on exploration. Additionally, we conducted a literature review using Google Scholar and PubMed to identify publications on Littre's hernia in paediatric patients.

Acute respiratory distress syndrome (ARDS) can be associated with a wide multiplicity of causes, including diffuse alveolar haemorrhage (DAH). Vasculitis associated with anti-neutrophil cytoplasmic antibody (ANCA), particularly granulomatosis with polyangiitis (GPA), is one of the most common causes of DAH, primarily affecting small and medium-sized vessels in the lungs and kidneys. Diagnosing GPA can be challenging, and it should be considered a potential cause of DAH, even in the absence of other organ involvement. Given the high mortality associated with this condition, early diagnosis and aggressive treatment are crucial for improving outcomes. We present the case of a young patient with severe ARDS who did not show significant alveolar haemorrhage on bronchoscopy or renal involvement but exhibited extensive gastrointestinal involvement and had a predominant laboratory diagnosis of positive cytoplasmic anti-neutrophil cytoplasmic antibody and proteinase 3 antibodies.

A late adolescent patient was admitted after a collapse and was found to have an intracranial haemorrhage due to an underlying midline arteriovenous malformation (AVM). The patient underwent trans-arterial squid embolisation of the AVM with good radiological resolution. 18 months later, the patient presented with new onset headaches. Cranial imaging demonstrated an enhancing lesion at the site of the previously thrombosed AVM in the corpus callosum. This was deemed to be a foreign body granuloma, a rare complication of intravascular embolisation of AVMs. The patient continued to have periodic imaging with subsequent scans demonstrating progressive changes in the granuloma and this was then resected surgically. We describe the natural history of the granuloma formation, outline the cranial imaging features associated with this rare condition and review the literature of similar cases.

An infant girl presented with multiple blisters followed by peeling of the skin over the entire body for 5 days with a prodrome of fever and cough. The child had dysmorphic facies, growth faltering and developmental delay. The ultrasonogram of the abdomen showed multiple small cysts in both kidneys with increased echogenicity and loss of corticomedullary differentiation. The whole exome sequencing revealed a 1.4 mb deletion on the long arm of chromosome 17, which also involves HNF1B gene. Diabetes workup showed an HbA1c of 5.9% with normal fasting glucose levels suggestive of a possible pre-diabetes. The renal functions were deranged with an estimated GFR of 22 mL/min/1.73 m² Keeping a possibility of staphylococcal scalded skin syndrome (SSSS), the child was treated successfully with appropriate antibiotics. This case depicts atypical presentation of 17q12 deletion syndrome with a very early onset chronic kidney disease, pre-diabetes and SSSS.

The superficial palmar arch, formed by the branches of radial and ulnar arteries, supplies the blood to the hand. In cases of incomplete superficial palmar arch, the radial and ulnar branches fail to join. Any compromise to the ulnar blood supply in an incomplete superficial palmar arch can lead to subsequent gangrene. This baby presented with blackish discolouration and gangrene on the left hand, primarily affecting the little, ring, middle and index fingers. Timely intervention with antibiotics and heparinisation led to salvage of the ring, middle and index fingers, while the little finger underwent auto-amputation. On clinical exome sequencing, the baby was found to have DOCK6 mutation. This case highlights the importance of vascular involvement in DOCK6 mutation and the need for careful evaluation and management in cases of incomplete superficial palmar arch.

20p chromosome inverted duplication deletion syndrome is a rare chromosomal disorder in which the short arm segment 20p11.2-p13 and the deleted subtopic region 20p13-20 replicate simultaneously. Patients with this syndrome are mainly presented with intellectual disability and motor development delay. We report here a middle childhood case of this syndrome characterised by intellectual disability, backward movement, unique facial features, congenital heart disease: ventricular septal defect, patent foramen ovale, pulmonary hypertension and congenital anorectal malformation. The patient's chromosome karyotyping analysis showed a short arm duplication on chromosome 20, described as 46, XY, 20p+?; his parents' karyotyping analysis is normal. Later genotype analysis by array-single nucleotide polymorphisms identified a total of 107 genome-wide copy number variations and we detected a new 1.3 Mb deletion (chr20:63 244-1 349 002) and 20.2 Mb duplication (chr20:1 608 108-24 174 965) from 20p13 to 20p11.2 using infinium asian screening array-24 V1.0 BeadChip (Illumina Inc., San Diego, USA).

A saree is a garment worn by women in the Indian subcontinent. It is usually wrapped around the body and secured over an ankle-length skirt (a petticoat). The petticoat is usually tied very tightly around the waist with a cord. The tight cord of the petticoat often leads to dermatoses related to chronic friction and maceration, resulting in dermatitis and depigmentation. In rare cases, chronic friction may lead to the development of squamous cell carcinoma. In the literature, these skin lesions, including malignant transformation, have been described as 'saree cancers', but it is the tightness of the cord tied around the waist that results in chronic inflammation that may result in malignant transformation. We report two cases of squamous cell carcinoma in women associated with tight petticoat cord ties-'petticoat' cancer.