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
Literatur
- 1
Wiskott A.
Familiärer, angeborener Morbus Werlhofii?.
Monatsschr Kinderheilkd.
1937;
68
212-216
- 2
Aldrich R A, Steinberg A G, Campell D L.
Pedigree demonstrating a sex-linked rezessive condition characterized by draining
ears, eczematoid dermatitis an bloody diarrhea.
Pediatrics.
1954;
13
133-139
- 3
Perry G S, Spector B D, Schuman L M. et al .
The Wiskott-Aldrich-Syndrome in the United States and Canada (1892 - 1979).
J Pediatr.
1980;
97
72-78
- 4
Derry J M, Ochs H D, Francke U.
Isolation of a novel gene mutated in Wiskott-Aldrich-Syndrome.
Cell.
1994;
78
635-644
- 5
Cheng D S, Cosgriff T M, Kitahara M.
Case Report, Long-Term Survival in Wiskott-Aldrich-Syndrome: Case Report an Literature
Review.
Am J Med Sci.
1981;
282
85-90
- 6 Cassidy J T, Pretty R E.
Immunodeficiencies and the rheumatic disease. In: Cassidy T. Textbook of Pediatric Rheumatology. Philadelphia, PA; Saunders
1995: 466-486
- 7
Eraklis A J, Kevy S V, Diamond L K. et al .
Hazards of overwhelming infections after Splenectomy in childhood.
N Engl J Med.
1967;
276
1225
- 8
Notarangelo L D, Parolini O, Faustini R, Poteri V, Albertini A, Ugazio A G.
Presentation of Wiskott-Aldrich-Syndrome as isolated thrombocytopenia.
Blood.
1991;
77
1125-1126
- 9
Puck J M, Siminovitch K A, Poncz M, Greenberg C R, Rottem M, Conley M E.
Atypical presentation of Wiskott-Aldrich syndrome: diagnosis in two unrelated males
based on studies of maternal T cell X chromosome inactivation.
Blood.
1990;
75
2369-2374
- 10
Lum L G, Tubergen D G, Blaese R M.
Splenectomy and prophylactic antibiotics in the management of the Wiskott-Aldrich-Syndrome.
Pediatr Res.
1978;
12
482
- 11
Sullivan K E.
Genetic and clinical advances in Wiskott-Aldrich-Syndrome.
Curr Opin Pediatr.
1995;
7
683-687
- 12
Hayakawa H, Kobayashi N, Yata J.
Primary immunodeficiency diseases and malignancy in Japan.
Jpn J Cancer Res.
1986;
77
74-79
- 13
Siminovitch K A, Greer W L, Novogrodsky A, Axelsson B, Somani A K, Peacocke M.
A diagnostic assay for the Wiskott-Aldrich-Syndrome and its variant forms.
J Invest Med.
1995;
43
159-169
- 14
Kwan S P, Hagemann T L, Radtke B E, Blaese R M, Rosen F S.
Identification of mutations in the Wiskott-Aldrich-Syndrome gene and characterization
of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene.
Proc Natl Acad Sci USA.
1995;
92
4706-4747
- 15
Good R A.
Bone marrow transplantation symposium. Bone Marrow transplantation for immunodeficiency
disease.
Am J Med Sci.
1987;
294
68-74
- 16
Akman I O, Ostrov B E, Neundorf S.
Autoimmune manifestations of the Wiskott-Aldrich-Syndrome.
Semin Arthritis Rheum.
1998;
27
218-225
Prof. Dr. W. J. Issing
The Freeman Hospital
Newcastle upon Tyne NE 77 DN
United Kingdom
Email: wolfgang.issing@nuth.nhs.uk