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Wilson's disease manifesting as refractory rickets.
BMJ Case Rep
January 2025
Neurology, King George's Medical University, Lucknow, Uttar Pradesh, India
Wilson's disease is a metabolic disorder affecting the liver, brain, skin and osteo-muscular organs. Refractory rickets is an unusual phenomenon in Wilson's disease. This 27-year-old man was primarily treated for rickets for 20 years without success and later developed features of tremulousness of limbs and dysphonia when he was evaluated for Wilson's disease.
View Article and Find Full Text PDFComplicated foregut duplication cyst presenting as broncho-oesophageal fistula.
BMJ Case Rep
January 2025
Radiodiagnosis, All India Institute of Medical Sciences, New Delhi, Delhi, India.
Oesophageal duplication cysts are a subtype of foregut cysts, associated with the presence of ectopic gastric mucosa. Gastric acid secreted by this mucosa can lead to complications. We report one such unusual case of complication leading to the formation of broncho-oesophageal fistula in a duplication cyst.
View Article and Find Full Text PDFRespiratory insufficiency as a rare presentation in a child with vitamin D-dependent rickets type 1.
BMJ Case Rep
January 2025
Pediatrics, Lokmanya Tilak Municipal General Hospital and Lokmanya Tilak Municipal Medical College, Mumbai, Maharashtra, India.
Rickets in children usually present with skeletal manifestations. However, they can also rarely present with extraskeletal manifestations, one of them being respiratory insufficiency. We present an unusual case of a girl in early childhood with respiratory insufficiency, which turned out to be due to the underlying vitamin D-dependent rickets (VDDR).
View Article and Find Full Text PDFPulmonary tuberculosis presenting as a hilar mass.
BMJ Case Rep
January 2025
Pulmonary Medicine, Siksha O Anusandhan University Institute of Medical Sciences and SUM Hospital, Bhubaneswar, Orissa, India.
Tuberculosis (TB) is a great mimicker due to its various unusual and atypical presentations. Mass-like lesions in thoracic radiology may raise the suspicion of lung malignancy. A man in his early 50s complained of cough, low-grade fever and dyspnoea.
View Article and Find Full Text PDFBlue Nevus-Like Metastatic Melanoma in a Patient With Primary Lentigo Maligna Melanoma.
J Cutan Pathol
January 2025
Stritch School of Medicine, Loyola University, Maywood, Illinois, USA.
Metastatic melanoma with unusual histopathology can be diagnostically challenging. One exceptionally rare cutaneous manifestation of metastases is blue-nevus-like metastatic melanoma (BNLMM). A 74-year-old male presented with a blue-gray lesion on his left helix in the same anatomical region of a previously resected lentigo maligna.
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