Abstract Background: There are three main forms of the Wiskott Aldrich syndrome, the classic severe form, the disymptomatic form without cutaneous signs (Harzheim and colleagues, 1965) and a milder variant X-linked thrombocytopenia and neutropenia. The aim of this paper is to describe the very rare occurrence of disymptomatic form of Wiskott Aldrich syndrome in two Iraqi brothers and the diagnostic challenge associated with such cases. Patients and methods: The case of two Yezidis brothers referred because each boy had two different medical reports from Hevi Teaching Children Hospital in Dohuk, Kurdistan Iraq. Two of these medical reports recommended sending them outside Kurdistan or outside Iraq for the diagnosis and management of their illnesses. Each of these medical reports was signed by a committee that included four consultant doctors. Results: The two brothers had chronic illness of more than two years duration characterized by thrombocytopenia, leucopenia, splenomegaly, draining ear (more prominent in the older brother) and chronic liver disease (more prominent in the younger bladder). The parents were consanguineous. The father was apparently healthy, but the mother was having allergic skin disorder. The boys had an older brother who died at the age of thirteen. The two patients have four healthy sisters aged 18, 15, 10 and 8 years respectively. Conclusion: This paper demonstrates that when it comes to the diagnostic challenges associated with rare disorders, obscurity, uncertainty and complexities can be transformed to a crystal-clear diagnosis in the hands of the expert.
Disymptomatic Wiskott Aldrich Syndrome: Overcoming a Diagnostic Challenge.
