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[Kayser-Fleischer ring in Wilson's disease].
Pan Afr Med J 2018; 30:137PA

Abstract

Wilson's disease is a copper toxicosis characterized by an overload in tissue copper (mainly hepatic, cerebral and pericorneal). It is caused by ATP7B mutations which incorporate copper into ceruloplasmin in the liver and pass out excess copper into the bile. This disease can be adequately treated if diagnosed early. The challenge is to diagnose it in the early stage of liver disease, before it becomes multisystemic. We report the case of a 19-year old female patient with Wilson's disease with multisytemic involvement: mucocutaneous pallor, intermittent hand tremor, that started when she was 16 years, hepatitis complicated by ascites, neurological disorder, such as postural tremor of the arms and the legs. Ophthalmologic examination using the slit-lamp showed Kayser-Fleischer ring in both eyes (A,B) which is a copper deposit in the peripheral corneal endothelium, more precisely on the border area between the cornea and the sclera (C). Laboratory tests showed low ceruloplasmin levels (0.03 g/L), cupremy 0.4 mg/l and urinary copper excretion 11.6 μmol. Brain MRI revealed generalized signal change, gliosis and atrophy of the thalamus and of the brainstem.

Authors+Show Affiliations

Departement d'Ophtalmologie, Hôpital Militaire d'Instruction Mohammed V, Rabat, Maroc.Departement d'Ophtalmologie, Hôpital Militaire d'Instruction Mohammed V, Rabat, Maroc.

Pub Type(s)

Case Reports
Journal Article

Language

fre

PubMed ID

30374383

Citation

Hajare, Qariani, and Khmamouche Mehdi. "[Kayser-Fleischer Ring in Wilson's Disease]." The Pan African Medical Journal, vol. 30, 2018, p. 137.
Hajare Q, Mehdi K. [Kayser-Fleischer ring in Wilson's disease]. Pan Afr Med J. 2018;30:137.
Hajare, Q., & Mehdi, K. (2018). [Kayser-Fleischer ring in Wilson's disease]. The Pan African Medical Journal, 30, p. 137. doi:10.11604/pamj.2018.30.137.15399.
Hajare Q, Mehdi K. [Kayser-Fleischer Ring in Wilson's Disease]. Pan Afr Med J. 2018;30:137. PubMed PMID: 30374383.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Kayser-Fleischer ring in Wilson's disease]. AU - Hajare,Qariani, AU - Mehdi,Khmamouche, Y1 - 2018/06/18/ PY - 2018/03/07/received PY - 2018/04/21/accepted PY - 2018/10/31/entrez PY - 2018/10/31/pubmed PY - 2018/11/21/medline KW - Kayser-Fleischer ring KW - Wilson's disease KW - copper toxicosis SP - 137 EP - 137 JF - The Pan African medical journal JO - Pan Afr Med J VL - 30 N2 - Wilson's disease is a copper toxicosis characterized by an overload in tissue copper (mainly hepatic, cerebral and pericorneal). It is caused by ATP7B mutations which incorporate copper into ceruloplasmin in the liver and pass out excess copper into the bile. This disease can be adequately treated if diagnosed early. The challenge is to diagnose it in the early stage of liver disease, before it becomes multisystemic. We report the case of a 19-year old female patient with Wilson's disease with multisytemic involvement: mucocutaneous pallor, intermittent hand tremor, that started when she was 16 years, hepatitis complicated by ascites, neurological disorder, such as postural tremor of the arms and the legs. Ophthalmologic examination using the slit-lamp showed Kayser-Fleischer ring in both eyes (A,B) which is a copper deposit in the peripheral corneal endothelium, more precisely on the border area between the cornea and the sclera (C). Laboratory tests showed low ceruloplasmin levels (0.03 g/L), cupremy 0.4 mg/l and urinary copper excretion 11.6 μmol. Brain MRI revealed generalized signal change, gliosis and atrophy of the thalamus and of the brainstem. SN - 1937-8688 UR - https://www.unboundmedicine.com/medline/citation/30374383/[Kayser-Fleischer_ring_in_Wilson's_disease] L2 - http://www.panafrican-med-journal.com/content/article/30/137/full/ DB - PRIME DP - Unbound Medicine ER -