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"Case Reports: Rare disease"
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Secondary osteonecrosis of the knee as a part of long COVID-19 syndrome: a case series
COVID-19 infection affects different organ systems with long-term sequelae, which has been termed as long COVID-19 syndrome. To the best of our knowledge, osteonecrosis of the knee as a part of long COVID-19 syndrome has not been documented. Corticosteroids are being used extensively in moderate and severe cases of COVID-19. We report two cases who developed osteonecrosis of the knee after being treated for COVID-19 infection. In our case series, the mean cumulative dose of prednisolone was 1156.5 mg (900–1413 mg), which is less than the cumulative dose reported in literature for osteonecrosis of the knee. In our case series, the patients developed symptomatic osteonecrosis at a mean interval of 73 days after initiation of steroid therapy, with the earliest presenting at 25 days. Early diagnosis of osteonecrosis of the knee on high clinical suspicion by MRI would help in early intervention with bisphosphonate therapy.
Journal Article
Zoonotic acquisition of cutaneous Sporothrix braziliensis infection in the UK
by
Serafino Wani, Robert
,
Ligaj, Marcin
,
Rachman, Raissa
in
Antibiotics
,
Antifungal agents
,
Antifungal Agents - therapeutic use
2022
A veterinarian presented with multiple erythematous tender nodules over his right hand and arm. One month prior to the appearance of the lesions, he had treated a cat imported from Brazil who had ulcerated pustular cutaneous lesions. Despite antibiotic treatment there had been no improvement in his symptoms. Biopsies from the patient were sent for histology, bacterial and fungal culture. Periodic acid-Schiff (PAS) stains showed a PAS positive oval yeast-like micro-organism with surrounding necrosis. Fungal cultures resembling Sporothrix species grew after 18 days with typical appearances seen on direct microscopy; this was confirmed as Sporothrix brasiliensis on 18S PCR. The patient was treated with oral itraconazole. This is a unique case of cutaneous S. brasiliensis acquired from an infected imported cat. S. brasiliensis is a rare pathogen in the UK. This case has clinical relevance due to its unusual aetiology and in raising awareness of rarer infections associated with importation of pets and global travel. Clinicians should be aware of sporotrichosis as a differential diagnosis for cutaneous and extracutaneous infection in patients with a high risk of exposure, as well as the use of appropriate diagnostic tests.
Journal Article
Misdiagnosed giant parathyroid cyst: differential diagnosis of a neck mass of the central region
2022
Parathyroid cysts (PCs) are rare benign lesions representing between the 0.08% and the 0.34% of the neck masses going on surgery. They should be considered in the differential diagnosis of neck masses, especially in the differential diagnosis of the cystic anterior neck masses. Approximately 300 cases of PC are reported within the international literature. The gold standard for diagnosis is the evidence of high-level intact parathyroid hormone in cystic fluid. It is important to diagnose PCs before surgery, not intraoperatively, in order to avoid unnecessary surgeries or superfluous excision of part of the thyroid gland and prevent the patient from iatrogenic hypothyroidism. A surgical approach is required in those patients with large-sized cysts, relapses despite needle aspirations or if it causes hyperparathyroidism. We describe a case report of a patient, initially misdiagnosed with a thyroid cyst swelling, who instead had a giant non-functioning PC, which produced dyspnoea or dysphagia.
Journal Article
Fibrillary glomerulonephritis in a patient with systemic lupus erythematosus with no evidence of lupus nephritis
2023
Fibrillary glomerulonephritis (FGN) is a rare proliferative form of glomerular disease characterised by randomly oriented fibrillary deposits with a mean diameter of 20 nm. It has a rare association with systemic lupus erythematosus (SLE). We report the case of a female in her mid-50's with a 20 year history of SLE, who developed proteinuria due to FGN and had no histological evidence of lupus nephritis. She was maintained on azathioprine and prednisolone. A renal biopsy revealed randomly arranged fibrillary deposits that positively stained for DNAJB9, consistent with a diagnosis of FGN. Azathioprine was switched to mycophenolate mofetil, and the patient showed significant improvement in proteinuria. This case-based review describes the diagnosis, management and clinical outcome of FGN in association with SLE in the absence of lupus nephritis.
Journal Article
Auricular leishmaniasis mimicking squamous cell carcinoma of the pinna
by
Akram, Saba
,
Akhtar, Shabbir
,
Awan, Muhammad Ozair
in
Biopsy
,
Case reports
,
Case Reports: Rare disease
2023
Cutaneous leishmaniasis can occur on any exposed area of the body; however, the pinna is an exceptionally rare site for the disease. Caused by the parasite Leishmania, cutaneous leishmaniasis has a wide range of presentations and thus is very easy to misdiagnose or mistake for a neoplastic lesion. Here, we report the case of a middle-aged male patient presenting with a painful, ulcerated lesion on the left auricle initially suspected to be a malignancy with histopathology eventually revealing a diagnosis of auricular leishmaniasis. The patient received appropriate therapy and was found to be disease free at follow-up. These isolated lesions of the pinna often resemble neoplastic lesions and thus may escape diagnosis for months at a time, increasing patient stress as well as expenditure. In addition, prompt recognition may also help mitigate recurrence of the disease, making it worthwhile to include cutaneous leishmaniasis as part of the differential, especially in endemic areas.
Journal Article
Lactobacillus rhamnosus endocarditis associated with dental procedure in a patient with Marfan’s variant and prior aortic root replacement
by
Hovan, Michael
,
Mandler, Ari
in
Aortic Valve - diagnostic imaging
,
Aortic Valve - surgery
,
Case Reports: Rare disease
2023
A man in his 60s with a medical history of Marfan’s variant with remote valve sparing aortic root replacement presented for evaluation of subacute fevers, chills and night sweats. He had no significant preceding history other than a dental cleaning performed with antibiotic prophylaxis. Blood cultures grew Lactobacillus rhamnosus which was susceptible to penicillin and linezolid but resistant to meropenem and vancomycin. A transthoracic echocardiogram showed an aortic leaflet vegetation with chronic moderate aortic regurgitation but no reduction in his ejection fraction. He was discharged home and treated with gentamicin and penicillin G, initially with adequate response. However, he was subsequently readmitted for persistent fevers, chills, weight loss and dizziness, found to have multiple acute strokes secondary to septic thromboemboli. He underwent definitive aortic valve replacement with excised tissue confirming infective endocarditis.
Journal Article
VEXAS syndrome with progression of MDS to MDS/MPN overlap syndrome
2022
VEXAS (vacuoles, E1 enzyme, X linked, autoinflammatory, somatic) syndrome is a novel inflammatory syndrome that was first described in December 2020. Patients with VEXAS syndrome have a somatic mutation in the UBA1 gene, inflammatory conditions and usually haematological conditions. Haematological conditions reported in patients with VEXAS syndrome include myelodysplastic syndrome (MDS), clonal cytopenia of undetermined significance, plasma cell neoplasm including multiple myeloma/monoclonal gammopathy of undetermined significance, haemophagocytic lymphohistiocytosis and monoclonal B-cell lymphocytosis. Here we describe a patient with VEXAS syndrome who had a progression of MDS to MDS/myeloproliferative neoplasm overlap syndrome. The ocular findings so far reported in these patients include episcleritis, uveitis, blepharitis and orbital cellulitis. Here we report retinal detachment as a clinical feature of VEXAS syndrome. This finding has a significant implication in patient management as it warrants higher vigilance for this sight-threatening complication.
Journal Article