Abstract
A 48 year old man presented to the accident and emergency department with syncope and was admitted for further investigation. He had the signs shown in figures 1 and 2, which are well recognised clinical features of an inherited disorder. Photo of patient's back Close up of patient's back The condition neurofibromatosis encompasses at least two distinct diseases, neurofibromatosis type 1 (von Recklinghausen's neurofibromatosis) and neurofibromatosis type 2. The patient was diagnosed with neurofibromatosis type 2 on clinical grounds; his syncopal episode was incidental and unrelated. Neurofibromatosis type 1 was first described by RW Smith in 1849 and later in 1892 by Friedreich D von Recklinghausen. It is now recognised as the most …
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