The main feature of this syndrome is the late
appearance (around age 4 years) of easy bruising with purpuric lesions and
scattered petechiae as a result of a low platelet count. In addition,
patients may present with acute bleeding as a consequence of minor trauma,
which, in turn, leads to anemia. The other characteristic of this syndrome
is the presence of neurologic anomalies, which seem to be quite variable
(hemiparesis with dilated left ventricle and asymmetry of the peduncles,
partial agenesis of the corpus callosum, hydrocephalus, Dandy-Walker
syndrome, developmental delay, and seizures). Congenital ocular anomalies
include strabismus, optic nerve hypoplasia, and rotary nystagmus. No
skeletal anomalies have been described in association with this syndrome.
The disorder usually is not responsive to steroid therapy. Bone marrow
transplant seems to be the only therapeutic solution.