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Orthopaedics, All India Institute of Medical Sciences (AIIMS), New Delhi, India.
A boy in middle childhood presented with complaints of swelling and pain in his right forearm for 4 months. He had previously undergone left above-elbow amputation due to a suspected malignant tumour in that arm. Radiological imaging revealed a locally aggressive bone tumour of the right distal radius.
View Article and Find Full Text PDFBiotinidase deficiency-masquerade of primary immunodeficiency disease in neonate.
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Biotinidase deficiency, a rare metabolic disorder characterised by abnormal biotin metabolism, affects the biotin-dependent carboxylase functions. Primarily characterised by neurological and skin disorder, it may present with myriad features. Early recognition is important for preventing long-term morbidities.
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Department of Pathology, Sarawak General Hospital, Jalan Hospital, 93586 Kuching, Sarawak Malaysia.
Ceruminous adenoma is a rare and benign tumor of the external auditory canal and present with a nonspecific symptom. Biopsy with histopathology examination is required to establish the diagnosis. Wide local excision of tumour shows favourable outcome with a low recurrence rate.
View Article and Find Full Text PDFAn Uncommon Clinical Mystery: Systemic Lupus Erythematosus Masquerading as Aseptic Meningitis in a Male Patient.
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September 2024
Department of General Medicine, Sri Ramaswamy Memorial (SRM) Medical College Hospital and Research Centre, Sri Ramaswamy Memorial (SRM) Institute of Science and Technology, Kattankulathur, Chennai, IND.
Systemic lupus erythematosus (SLE) is an intricate autoimmune disease characterized by its impact on various organ systems, presenting with a wide range of clinical manifestations such as hematologic, neuropsychiatric, mucocutaneous, serosal, musculoskeletal, immunologic, cardiac, pleuropulmonary, and renal symptoms. Although its etiology is primarily autoimmune, various triggers, such as pregnancy, certain drugs, and infections, can result in "flares" with frequent relapses. Although more common in females, SLE is not uncommon in males, with a significant proportion experiencing a high disease burden.
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Article Synopsis
- Langerhans cell histiocytosis (LCH) is a rare childhood disorder with diverse symptoms, making early diagnosis challenging.
- Biopsy and specific molecular testing are often needed for confirmation, which may not be available in all medical facilities.
- A case of a two-year-old girl misdiagnosed with infectious mononucleosis underscores the need for better awareness of LCH in clinical practice to improve timely treatment.
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