tailieunhanh - Báo cáo y học: "An atypical presentation of cystic fibrosis: a case report"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: An atypical presentation of cystic fibrosis: a case report | Journal of Medical Case Reports BioMed Central Open Access An atypical presentation of cystic fibrosis a case report Deepak Joshi 1 Anil Dhawan2 Alistair J Baker2 and Michael A Heneghan1 Address institute of Liver Studies Kings College Hospital London SE5 9RS UK and institute of Liver Studies Paediatrics Kings College Hospital London SE5 9RS UK Email Deepak Joshi - djosh78@ Anil Dhawan - Alistair J Baker - Michael A Heneghan - Corresponding author Published 12 June 2008 Received 28 June 2007 Journal of Medical Case Reports 2008 2 201 doi 1752-1947-2-201 Accepted 12 June 2008 This article is available from http content 2 1 201 2008 Joshi et al licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License http licenses by which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract Introduction The presentation of cystic fibrosis is dependant upon which organs are affected. Common presentations include chronic respiratory infections and malabsorption. Patients with atypical disease tend to present late in childhood or as adults. Eye manifestations of cystic fibrosis are less well known. Case presentation A 14-year-old Caucasian boy presented with tiredness and difficulty seeing at night over a period of 6 months. Good vision was only described in bright conditions. There was no history of jaundice steatorrhea or diarrhoea. Conclusion This is the first reported case of newly diagnosed cystic fibrosis-related liver disease in a teenage boy whose presenting symptom was night blindness secondary to vitamin A deficiency. Introduction Cystic fibrosis CF is the most common autosomal recessive disease in Northern Europe. This case highlights the broad spectrum of presentation of .