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Challenging diagnosis of Wilson's disease: A case report.
Mansoor, Valeed Bin; Khan, Saad Yunus; Khan, Muhammad Arsalan; Khatoon, Shafat; Miraj, Muhammad Arqam; Syed, Fibhaa; Arif, Mohammad Ali.
Afiliación
  • Mansoor VB; Department of General Medicine, Pakistan Institute of Medical Sciences, Islamabad, Pakistan.
  • Khan SY; Department of General Medicine, Pakistan Institute of Medical Sciences, Islamabad, Pakistan.
  • Khan MA; Department of General Medicine, Pakistan Institute of Medical Sciences, Islamabad, Pakistan.
  • Khatoon S; Department of General Medicine, Pakistan Institute of Medical Sciences, Islamabad, Pakistan.
  • Miraj MA; Department of General Medicine, Pakistan Institute of Medical Sciences, Islamabad, Pakistan.
  • Syed F; Department of General Medicine, Pakistan Institute of Medical Sciences, Islamabad, Pakistan.
  • Arif MA; Department of General Medicine, Pakistan Institute of Medical Sciences, Islamabad, Pakistan.
J Pak Med Assoc ; 74(1): 169-171, 2024 Jan.
Article en En | MEDLINE | ID: mdl-38219193
ABSTRACT
Wilson's disease is arare inherited disorder of copper met abolism. If le f t untre ated, i t can turn into a multi systemic disease with copper deposition in the liver, brain, a nd other tissues. Diagnosi s of Wilson's is delayed in Pak ist an by many ye a rs on average due to va riabl e presen tations. In ad olescents, the initial s igns a re more likely to b e neuropsychiatric. Here we present a case of Wilso n's disease that pre sented initially with he patic symptoms and did not have signs specific to the di sea s e such as Kayser-Fleischer rings. Our case was diagnosed to be Wilson's Disease on ly on further investigat ions and s ubsequently the patient was treated with chela tion therapy using D-Penicillamine.Wilson's Disease should be kept in mind as a differential diagno sis in adolesce nt patients that present with unexplained acute liver failure and cytopenias without any neurological symptoms, as a missed diagnosis can prove to be fatal.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Degeneración Hepatolenticular Tipo de estudio: Diagnostic_studies Límite: Humans / Male Idioma: En Revista: J Pak Med Assoc Año: 2024 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Pakistán
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Degeneración Hepatolenticular Tipo de estudio: Diagnostic_studies Límite: Humans / Male Idioma: En Revista: J Pak Med Assoc Año: 2024 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Pakistán