Acquired Recto-Vaginal Fistula as a Presenting Feature in an Infant with Severe Combined Immunodeficiency
Sign Up to like & getrecommendations! Published in 2020 at "Indian Pediatrics"
DOI: 10.1007/s13312-020-1859-x
Abstract: with Mycobacterium Avium Complex), DCML (dendritic cell monocyte and lymphoid deficiency) and Emberger syndrome (sensorineural deafness, congenital lymphedema and viral warts). This is a sporadic entity with autosomal dominant inheritance. Germline GATA 2 mutations are… read more here.
Keywords: immunodeficiency; fistula presenting; presenting feature; recto vaginal ... See more keywords
Choroidal metastasis as the presenting feature of metastatic lung carcinoma
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DOI: 10.1111/cxo.12950
Abstract: This is a case report of choroidal metastasis as the presenting feature of metastatic lung carcinoma in a young patient.A 32‐year‐old male presented with gradual‐onset painless progressive diminuti... read more here.
Keywords: metastasis presenting; feature metastatic; presenting feature; lung carcinoma ... See more keywords
Neutrophilic urticarial dermatosis as a presenting feature of systemic juvenile idiopathic arthritis
Sign Up to like & getrecommendations! Published in 2018 at "Pediatric Dermatology"
DOI: 10.1111/pde.13464
Abstract: This report describes a case of chronic neutrophilic urticarial dermatosis as a presenting feature of systemic juvenile idiopathic arthritis. When encountered in children, neutrophilic urticarial dermatosis should raise suspicion of autoimmune or autoinflammatory disease. read more here.
Keywords: neutrophilic urticarial; presenting feature; dermatosis presenting; feature systemic ... See more keywords
Angioedema as the presenting feature of systemic lupus erythematosus
Sign Up to like & getrecommendations! Published in 2018 at "BMJ Case Reports"
DOI: 10.1136/bcr-2018-224222
Abstract: A young female in her early 20s presented with low-grade fever for 1 month, puffiness of face and abdominal distension for 15 days. Evaluation revealed pancytopenia with normocellular marrow, hypocomplementaemia and Coomb’s positive haemolytic anaemia. She had… read more here.
Keywords: systemic lupus; angioedema presenting; presenting feature; lupus erythematosus ... See more keywords
Bilateral cataracts as the presenting feature of type 1 diabetes in an 11-year-old girl
Sign Up to like & getrecommendations! Published in 2018 at "BMJ Case Reports"
DOI: 10.1136/bcr-2018-225644
Abstract: Paediatric cataracts can present a diagnostic dilemma to ophthalmologists. Next-generation DNA sequencing (NGS) has been promoted as a tool to expedite the diagnosis of an underlying cause in such cases.1 The authors present an unusual… read more here.
Keywords: old girl; presenting feature; type diabetes; bilateral cataracts ... See more keywords
Osteolytic lesions as the sole presenting feature of secondary syphilis
Sign Up to like & getrecommendations! Published in 2021 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-242814
Abstract: We present the case of a 48-year-old man with a background of well-controlled HIV who presented with bony pain in multiple regions and raised inflammatory markers. After an investigative process, the patient was newly diagnosed… read more here.
Keywords: medicine; sole presenting; presenting feature; osteolytic lesions ... See more keywords
Chest Pain Due to Pericardial Effusion as Initial Presenting Feature of Rheumatoid Arthritis: Case Report and Review of the Literature
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DOI: 10.14740/cr570e
Abstract: Pericardial effusions are not uncommon in rheumatoid arthritis (RA); however, they are rarely the presenting symptom of the disease. We describe a 55-year-old female who presented to the emergency department with complaints of chest pain… read more here.
Keywords: chest pain; presenting feature; case; rheumatoid arthritis ... See more keywords
Paediatric Poliosis as the Presenting Feature of Scalp Vitiligo: A Retrospective Case Series
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DOI: 10.2340/actadv.v102.2492
Abstract: Abstract is missing (Short communication) read more here.
Keywords: feature scalp; presenting feature; poliosis presenting; vitiligo retrospective ... See more keywords
Hyponatremia as the Presenting Feature of a Pituitary Abscess in a Calf
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DOI: 10.3390/vetsci4010008
Abstract: A 2-month-old Simmental heifer presented for acute onset of neurological behavior. Laboratory tests confirmed the presence of hyponatremia, hypochloremia, and hypokalemia that improved with intravenous fluid therapy. Despite an initial cessation of neurological signs, symptoms… read more here.
Keywords: abscess; hyponatremia presenting; presenting feature; feature pituitary ... See more keywords
Optic nerve demyelination as the presenting feature of adrenoleukodystrophy in a child
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DOI: 10.4103/ijo.ijo_2210_21
Abstract: Adrenoleukodystrophy (ALD) is an x‐linked recessive lipid storage genetic disorder due to modifications in the ABCD1 (ATP‐binding cassette) gene, resulting in defective peroxisomal β‐oxidation and the excessive collection of very‐long‐chain fatty acids (VLCFAs) in tissues… read more here.
Keywords: presenting feature; optic nerve; demyelination presenting; nerve demyelination ... See more keywords
Isolated acrometastasis: A rare presenting feature of endometrial carcinoma
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DOI: 10.4103/jcrt.jcrt_394_15
Abstract: The most common presenting feature of endometrial carcinoma (EC) is abnormal uterine bleeding. Bone metastasis, as a presenting feature of EC, is very unusual which is usually restricted to pelvis and vertebrae. The occurrence of… read more here.
Keywords: feature; endometrial carcinoma; isolated acrometastasis; feature endometrial ... See more keywords