[The Wiskott-Aldrich syndrome in adulthood].
METHODS
A 24-year-old man with thrombocytopenia was referred for surgical resection of a bleeding polyp of the sigmoid. Examination showed a small haematoma and petechiae on both lower legs. The patient reported that several male family members also had a thrombocytopenic bleeding tendency.


METHODS
Laboratory tests revealed thrombocytopenia (4000 platelets/ml, with small platelets: mean platelet volume [MPV] 5.6 ml). Serum immunoglobulins were normal. A mutation in the Wiskott-Aldrich (W-A) protein gene (intron 7 + 5 G-->A) was demonstrated both in the patient and his 26-year-old brother.


METHODS
The diagnosis of W-A syndrome was made and, with perioperative administration of platelets, the polyp was resected without complication.


CONCLUSIONS
Most patients with the W-A syndrome die by the time they are aged 10 years, unless appropriate treatment is given. This patient and his brother had a mutation of the W-A protein gene that unusually was in an intron rather than in an exon. Structurally normal W-A proteins were still being formed. This may explain the mild course and late onset of the disease.
Matzdorff
A
A
Abteilung Hämatologie/Internistische Onkologie, Justus-Liebig-Universität Giessen. axel.matzdorff@innere.med.uni-giessen.de
Meindl
A
A
Pralle
H
H
D000328:Adult; D001707:Biopsy, Needle; D001853:Bone Marrow / Q000473:pathology; D003131:Combined Modality Therapy; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009154:Mutation; D010976:Platelet Count; D011506:Proteins / Q000235:genetics; D014923:Wiskott-Aldrich Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000628:therapy; D051316:Wiskott-Aldrich Syndrome Protein; D014960:X Chromosome / Q000235:genetics
D011506:Proteins; C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein