학술논문

Recurrent acute coronary syndrome, polymorphic premature ventricular complexes and a son with a (mis)diagnosis of multiple sclerosis.
Document Type
Case Study
Source
Acta Cardiologica; Sep2020, Vol. 75 Issue 5, p467-468, 2p
Subject
CHEST pain
ANGIOKERATOMA corporis diffusum
MULTIPLE sclerosis
DIAGNOSTIC errors
GENETIC testing
Language
ISSN
00015385
Abstract
The article describes the case of a 69-year-old female referred for recurrent chest pain, fatigue and dyspnoea on exertion and a son with a misdiagnosis of multiple sclerosis. Topics discussed include findings on the genetic testing of the son; a discussion on fabry disease, a X-linked lysosomal storage disorder; and reason that the correct diagnosis may be overlooked for several years.