Zusammenfassung
Einleitung: Das Wiskott-Aldrich-Syndrom zählt zu den Phakomatosen. Die Vererbung erfolgt X-chromosomal rezessiv im Bereich Xp 11.3 - Xp 11.22. Klinische Manifestationen zeigen sich in Form einer Thrombozytopenie, eines Ekzems und einer Immunschwäche mit daraus resultierender Prädisposition für maligne Erkrankungen. Ein weiteres Kennzeichen der Erkrankung ist, wie von Aldrich 1954 beschrieben, eine rezidivierende Otitis media. Patient: Der geschilderte Fall handelt von einem 28-jährigen Patienten mit akuter Ertaubung links und seit 5 Jahren bekannter Surditas rechts. Vor 8 Jahren wurde eine Splenektomie durchgeführt. Weitere klinische Auffälligkeiten waren ein Hemiballismus nach einer Thalamusblutung vor 5 Jahren und eine seit 2 Jahren bestehende jeweils beidseitige Vestibulopathie und Makulopathie mit stark vermindertem Visus. Schlussfolgerung: Die Ertaubung bei Patienten mit Wiskott-Aldrich-Syndrom stellt ein bislang nicht beschriebenes Symptom im Manifestationskomplex dieser Erkrankung dar.
Abstract
Introduction: The Wiskott-Aldrich-syndrome belongs to the phakomatoses. The hereditary transmission happens x-chromosomal recessive in the domain of Xp 11.3-Xp 11.22. Clinical evidence for that is given by thrombocytopenia, an eczema and a weakness of the immune system with a subsequent increased risk of frequent infections and a predisposition for a malignancies. A further characteristic of that disease is recurrent otitis media as described by Aldrich in 1954. Patient: The case - as described above - is about a 28-year-old male patient developing an acute deafness on the left ear while he has been suffering from a surditas on the right ear for 5 years. 8 years ago a splenectomy was made, because of persistent thrombocytopenia. An additional clinical characteristic was a hemiballism, arising after a thalamusbleeding 5 years ago, a both-sided vestibular failure concerning both that has been existing for 2 years, as well as a maculopathia with a highly reduced visus on both sides. Conclusions: The deafness arising in patients suffering from the Wiskott-Aldrich-syndrome represents a so far not described symptom of that illness.
Schlüsselwörter
Ertaubung - Wiskott-Aldrich-Syndrom - Phakomatose
Key words
deafness - Wiskott-Aldrich-syndrome - phakomatosis
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Prof. Dr. W. J. Issing
The Freeman Hospital
Newcastle upon Tyne NE 77 DN
United Kingdom
eMail: wolfgang.issing@nuth.nhs.uk
