Espersencross6117

We describe here an interesting case of a 7-day-old male infant brought with parental concerns of inability to extend both knees. Clinical evaluation revealed dysplastic fingernails, bilateral abnormal patellae, triangular lunules in conjunction with pathognomic iliac horns on pelvic radiographs suggesting the possibility of nail-patella syndrome (NPS). Other competing diagnoses with similar phenotypic features were considered and sequentially excluded. A definitive diagnosis was established by the identification of the principal mutation at the LMX1B gene locus of chromosome 9. NPS is seldom diagnosed in neonates due to the heterogeneity of clinical presentations as well as the subtlety of clinical clues in this population. NPS is a dominantly inherited disorder that is predominantly familial in origin and thus carries important implications for the prenatal diagnosis of future pregnancies as well as pre-emptive surveillance of nephropathy in the index child.Neonatal herpes simplex virus (HSV) infection is rare, with an estimated incidence of 3.58 per 100 000 live births in the UK and should be suspected in any newborn with fever and bacterial culture-negative sepsis. We describe a case of a previously well full-term male neonate who presented with persistent fever and elevated ferritin level that was carried out during the era of the COVID-19 pandemic as part of SARS-CoV-2 panel investigations. Despite the initial negative HSV serology, HSV-1 PCR from a scalp lesion returned positive. He made a full recovery after acyclovir therapy. This case highlights the importance of maintaining a high clinical index of suspicion of HSV infection in any febrile neonate even with absence of maternal history and negative serology, particularly if associated with hyperferritinaemia. We also address the challenge of interpreting inflammatory biomarkers' results for SARS-CoV-2 infection in neonates.A 29-year-old male patient presented to the emergency department with haematuria and flank pain. Ten months agopreviously, he had undergone orchidectomy and adjuvant chemotherapy for a testicular mixed germ cell tumour. Cystoscopy revealed a large bladder wall mass. The final diagnosis of yolk sac tumour was established after transurethral resection of the lesion. The patient was treated with salvage chemotherapy and placed on short-interval biochemical and radiological surveillance to assess treatment response.A 53-year-old man was admitted to our hospital because of general fatigue and disorientation. He had been diagnosed with Bartter syndrome in his teens and had been taking potassium preparations since then. However, his serum potassium concentration (K+s) remained persistently low. Ten days before admission, he developed fever. He was diagnosed as having bronchitis and was treated with antibiotics. Although his fever subsided, general fatigue worsened. Laboratory examination showed hyponatraemia (127 mEq/L), while K+s was 2.3 mEq/L. C reactive protein was negative. On admission, laboratory examination revealed deterioration of hyponatraemia (125 mEq/L). Although his serum sodium concentration (Na+s) was refractory to electrolyte replacement, the level increased towards normal after spironolactone administration, following normalisation of K+s, suggesting that hyponatraemia was caused by K+ depletion. Physicians should be aware of the importance of the effects of exchangeable K+ (K+e) on Na+s.A 44-year-old previously well woman presented with features of respiratory sepsis including a productive cough and fevers, with a recent preceding influenza-like illness. She was diagnosed with community-acquired pneumonia on chest radiograph, influenza infection via nasopharyngeal swab and Streptococcus pneumoniae bloodstream infection with associated purulent pericarditis. She was managed with pericardial drainage and concurrent treatment with antibiotics and made an excellent recovery. This case highlights the complications of both influenza and S. pneumoniae infections, and the importance of prevention via vaccination.Brucellosis is a common zoonotic disease worldwide. It has protean clinical manifestation and sometimes may has a life-threatening complication. A 4-year-old boy presented with a history of fever, myalgia and appetite loss for 3 weeks. On examination, he had hepatosplenomegaly. The initial working diagnosis was an infection, autoimmune disease and malignancy. Investigations showed positive Brucella serology, and he was started on rifampicin and cotrimoxazole. He was further investigated because of persistent fever, which revealed evidence of haemophagocytic lymphohistiocytosis (HLH). He continued treatment for brucellosis, except rifampicin which was replaced with doxycyclin due to a worsening liver function. The child showed complete clinical and biochemical improvement after 6 weeks of therapy. HLH is a life-threatening condition and should be suspected in children with brucellosis, who did not respond to appropriate antibiotics treatment. Secondary HLH does not always require specific therapy; it may improve with adequate treatment of the underlying condition.We present the case of a 57-year-old woman diagnosed with stage 4 sarcomatoid carcinoma of the lung who concurrently developed a scalp lesion, thought to be a cyst, which continued to grow and ulcerate. Excision revealed a rare case, only four previously reported in the literature, of metastatic sarcomatoid carcinoma of the lung. While a very unusual case, we would like to emphasise the importance of considering skin metastases when presented with unusual skin lesions, and importantly listening to the patient's concerns, showing empathy and respecting their autonomy and referring to an appropriate specialist when considering the management of what may seem to be a minor skin report.Eosinophilic ascites is a rare type of exudative ascites most commonly caused by eosinophilic gastroenteritis. Here, a 57-year-old man presents with sudden-onset abdominal distension associated with nausea, vomiting and decreased appetite for 10 days. Physical examination revealed significant abdominal distention and fluid wave. Initial labs showed leucocytosis and mild peripheral eosinophilia. Imaging of his abdomen revealed severe ascites, no features of cirrhosis and diffuse inflammatory changes involving the jejunum and ileum. Diagnostic paracentesis showed exudative, ascitic fluid with predominant eosinophilia. Cytology of the ascitic fluid and blind biopsies taken during oesophagogastroduodenoscopy and enteroscopy were both negative for malignancy. The ascites reaccumulated rapidly, requiring five rounds of large-volume paracentesis during hospitalisation. Empiric treatment for suspected eosinophilic gastroenteritis with intravenous steroids improved and stabilised the patient's ascites for discharge. this website Parasitic workup resulted positively for Toxocara antibodies on ELISA.