ultrasound diagnosis of fatal anomalies

AGENESIS OF THE CORPUS CALLOSUM
Fig. 2.17 Agenesis of the corpus callosum. Atypical
course of the pericallosal artery due to agenesis
of corpus callosumat 30 + 1 weeks.
Achieving a reliable prognosis and definitely excluding
other central nervous system anomalies
are difficult tasks. In counseling the parents, expert
advice from neuropediatrician and a neuropathologist
should be taken. Diseases with autosomal-dominant
inheritance in the parents,
such as tuberous sclerosis and basal-cell nevus
syndrome, should be excluded. It is important to
search for fetal infection (TORCH). Regular sonographic
checks do not per se show any changes
in the findings, but the associated ventriculomegaly
may develop later in pregnancy.
Procedure after birth: There are no neurological
deficits when agenesis of the corpus callosum is
an isolated finding. Magnetic resonance imaging
is considered the best method of confirming the
diagnosis and excluding other central nervous
system anomalies.
Prognosis: The isolated condition remains
mainly asymptomatic, but seizures may occur.
The prognosis in some syndromes—for example,
Dandy–Walker syndrome—is poor when associated
with absence of the corpus callosum;
otherwise a good prognosis is expected.
Information for the patient: Up to 1% of adults
have congenital agenesis of the corpus callosum,
without their knowledge and without symptoms.
In the absence of associated anomalies,
mental development is normal.
Self-Help Organization
Title: The ACC Network
Description: Helps individuals with agenesis,
or other anomaly, of the corpus callosum,
their families, and professionals. Helps identify
others who are experiencing similar issues
to share information and support. Phone
support, information, newsletter and referrals.
Coordinates an electronic discussion
group on the internet.
Scope: International network
Founded: 1990
Address: University of Maine; 5749 Merrill
Hall, Room 118, Orono, Maine 04469–5749,
United States
Telephone: 207–581–3119
Fax: 207–581–3120
E-mail: UM-ACC@maine.maine.edu
References
Achiron R, Achiron A. Development of the human fetal
corpus callosum: a high-resolution, cross-sectional
sonographic study. Ultrasound Obstet Gynecol 2001;
18: 343–7.
Comstock CH, Culp D, Gonzalez J, Boal DB. Agenesis of
the corpus callosum in the fetus: its evolution and
significance. J Ultrasound Med 1985; 4: 613–6.
D’Ercole C, Girard N, Cravello L, et al. Prenatal diagnosis
of fetal corpus callosum agenesis by ultrasonography
and magnetic resonance imaging. Prenat Diagn
1998; 18: 247–53.
Greco P, Vimercati A, De Cosmo L, Laforgia N, Mautone
A, Selvaggi L. Mild ventriculomegaly as a counselling
challenge. Fetal Diagn Ther 2001; 16: 398–401.
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