Dandy Walker malformation

Roberto Noya Galluzzo, MD

Instituto Fernandes Figueira, Florianopolis, Brasil

This is a case of a second trimester fetus with a Dandy Walker malformation.

Note the enlarged cisterna magna.

Hypoplasia of the cerebellar vermis and the separation of the cerebellar

hemispheres

The pericallosal artery and the vein of Galen (in red)

Definition: In 1914, Blackfan and Dandy described some alterations of the posterior
fossa as cystic dilatation of the fourth ventricle, hypoplasia of the cerebellar vermis,
separation of the cerebellar hemispheres, dilatation of the mesencephalic aqueduct
and absence of the mediate and lateral apertures of the fourth ventricle. These
abnormalities were referred to as Dandy-Walker malformation. In the 1970 and 80
different definitions were introduced for similar abnormalities of posterior fossa and
then the classic definition of the Dandy-Walker malformation.
The term Dandy-Walker syndrome was introduced to define the association of

ventriculomegaly,
increase of the cisterna magna and
defect of the cerebellar vermis with a communication of the cyst with the
fourth ventricle.

Now the complex term of Dandy-Walker is used to indicate a spectrum of anomalies

of the posterior fossa. Using the computerized tomography the anomalies was
classified in the following way:
Dandy-Walker malformation: increase of the posterior fossa, complete or partially agenesis
of the cerebellar vermis, and a tentorium elevation
Variant of Dandy-Walker: hypoplasia of the cerebellar vermis in different degrees with or
without increase of the posterior fossa.
Mega-cisterna magna: increase of the cisterna magna with integrity of the cerebellar vermis
and fourth ventricle.
Incidence: It has an estimate prevalence of 0.3:10.000 births and it is found in 4 to 12% of
the cases of infantile hydrocephalus. The incidence of the different forms of the complex is
uncertain. The Dandy-Walker malformation is associated with a high mortality that is around
70%, attributed to the associated malformations that are present in approximately 75% of the
affected fetuses.
Recurrence risk: In the absence of recognized syndromes there is a recurrence risk from 1 to
5%.
Embryology and etiology: The formation of the cerebellar vermis begins in the ninth week
of gestation by the fusion in the medium line of the cerebellar hemispheres beginning in the
superior part and continuing inferior until the total formation of the vermis in the end of the
fifteenth weeks. Original it was though that atresia of the foramens of Luschka and
Magendie would cause the dilatation of the ventricular system. Benda observed later that
atresia of the foramen was not always present. Gardner proposes that the malformation would
be due to an imbalance between the production of the fluid between the third, the lateral
ventricle and the fourth ventricle. The exaggerating production of the fluid in the ventricles
would result in a dilation and herniation of the rhombencephalus. The compression would
take a secondary hypoplasia of the cerebellar vermis and the fourth ventricle would form a
cyst. Genetic factors are the largest cause.
The Dandy-Walker malformation can occur as part of Mendelian disorders and chromosomal
aberrations. Teratogens including infection viral, alcohol and diabetes are suggested as cause
of the malformation.
Diagnosis: It has been diagnosed in the prenatal period in the first trimester during a routine
ultrasound exam. The classic alteration is less common than the variant form. The classic
malformation is characterized by the presence of increased cistern magna, communicating
with the fourth ventricle through a defect in the cerebellar vermis going from the hypoplasia
of the inferior part to the complete agenesis. The cerebellum and frequently the hemispheres
are small. As a consequence of the larger cistern magna the posterior fossa expands and
elevates the tentorium. In the beginning of the second trimester, the inferior portion of the
cerebellar vermis cannot be totally developed, so caution is warranted. The scan at 18 weeks
or later is recommended if there is the suspicion of agenesis of the vermis, especially if the

inferior portion is not seen. Enlargement of the cistern magna is considered when greater than
10mm in the antero-posterior axis. The hydrocephaly was already considered as an element
of the diagnosis, but recent studies suggest that it is not always present in the birth, but
usually appear in the first months of life.
Differential diagnosis: Arachnoid cyst can be differentiated by the size and appearance of
the cerebellum. Even in the second and third trimester the insonation angle can mistake the
diagnosis. In the cases of doubt a sagittal plane helps visualization of the vermis. A
transvaginal scan if possible will result in a better view too.
Associated anomalies: Postnatal studies indicate a frequency from 50 to 70% of associated
anomalies. Other anomalies include ventriculomegaly, other midline anomalies, corpus
callosum agenesis, holoprosencephaly, cephaloceles, polycystic kidneys, heart defects and
cleft lip and palate. The chromosomal abnormalities include trisomies 18, 13 and Turner
syndrome.
Prognostic: The classic malformation is usually clinically manifest in the first year of
life with symptoms of hydrocephaly and/or neurological symptoms. The mortality is
24% but with current neurosurgical techniques mortality has been decreasing. The
intellectual development in the survivors is controversial. Intellectual deficit may be in
teh range of 40 to 70% of the cases. The isolated defect (no aneuploidies or other
anomalies) seems to be associated with better prognostic.
Management: There is no modification of standard obstetric management.
Cesarean delivery is indicated only if macrocrania is present.
References:
1 - R. Achiron, A. Achiron. Transvaginal ultrasonic assessment of the early fetal brain. Ultras Obstet
Gynecol 1991;1(5):336-344
2 - G. Pilu, I. Goldstein, E. A. Reece, A. Perolo, M. P. Foschini, J. C. Hobbins, L. Bovicelli.
Sonography of fetal Dandy - Walker malformation: a reappraisal Ultras Obstet Gynecol
1992;2(3):151-157
3 - B. Ulm, M. R. Ulm, J. Deutinger, G. Bernaschek. Dandy-Walker malformation diagnosed before
21 weeks of gestation: associated malformations and chromosomal abnormalities. Ultras Obstet
Gynecol 1997;10(3):167-170
4 Gianluigi Pilu, Antonella Visentin, Barbara Valeri. The Dandy-Walker complex and fetal
sonography. Ultras Obstet Gynecol 2000;12(2):115-117
5 Nyberg DA, Pretorius DH. Cerebral Malformations. In: Nyberg DA, Mahony BS, Pretorius DH, eds.
Diagnostic ultrasound of fetal anomalies. Lippincott Willians and Wilkins, 2003.; 237-243.
5 - JA Estroff, MR Scott, and BR Benacerraf. Dandy-Walker variant: prenatal sonographic features
and clinical outcome. Radiology 1992; 185: 755.
6 - MC Chang, SA Russell, PW Callen, RA Filly, and RB Goldstein. Sonographic detection of inferior
vermian agenesis in Dandy-Walker malformations: prognostic implications. Radiology 1994; 193: 765.

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