Intracranial abnormalities detected by
three-dimensional magnetic resonance imaging in Prader-Willi syndrome
Miller JL, Couch JA, Schmalfuss I, He G, Liu Y, Driscoll DJ.
Am J Med Genet A. 2006 Nov
Prader-Willi Syndrome and
its associated neurologic pathology have been grossly understudied. In this
study, the researchers used three dimensional magnetic resonance imaging to
compare 20 individuals with PWS ranging in age from 3 months to 39 years, 21
normal weight siblings and 16 individuals with early onset morbid obesity. The
findings revealed abnormalities which included Ventriculomegaly in all 20
individuals with PWS. Ventriculomegaly is described as an enlargement of the
lateral ventricles between 10mm and 15 mm in width. The brain has 4 fluid
filled spaces that communicate with each other called ventricles. Fluid
produced with the brain circulates through the ventricles of the brain and
around the spinal cord. The lateral ventricles may become enlarged if the
outflow of fluid from the lateral
ventricles is blocked at the interventricular foramen.
Polymicrogyria (PMG) was
observed in the sylvian fissure in 13 patients along with partial insular
closure. The surface of the brain contains folds called gyri. The
condition referred to as Polymicrogyria (PMG) is merely descriptive from a
radiologistís viewpoint and is not considered a disease. Some individuals, but
not all, with PMG have some degree of global developmental delays, seizures,
feeding difficulties, respiratory problems, motor dysfunction and mental
None of the members of the
control group (ie normal weight) demonstrated any brain alterations. Many of
the members of the PWS group demonstrated changes within the brain structure.
This suggests that those with paternal deletions in the chromosome 15q11-q13
region may have aberrant brain development.