Pediatric

Radiology

Aicardi's Syndrome; Radiologic Manifestations 1

Harold E. Phillips, M.D., Anthony P. Carter, M.D., Joseph L. Kennedy, Jr.,
M.D., N. Paul Rosman, M.D., and John F. O'Connor, M.D.

Features of Aicardi's syndrome include infantile spasms associated with pathognomonic

chorioretinopathy, abnormalities of the corpus callosum with heterotopia of gray matter,
and characteristic electroencephalographic findings. Vertebral abnormalities are also part
of the syndrome, which is apparently limited to female infants. Subnormal mental develop-
ment appears in all cases. It was first described in 1969 in French. Isolated cases in the lit-
erature have been associated with facial asymmetry, plagiocephaly, and the Dandy-Walker
syndrome. Experience with two patients suggests that a search for cases among patients
with chorioretinopathy and infantile spasms will show the syndrome to be more common
than currently reported.

INDEX TERMS: Brain, abnormalities. Eyes. (Skull and contents, other miscellaneous
anomalies, 1[0] .1499) Spinal cord, abnormalities

Radiology 127:453-455, May 1978

A ICARDI'S SYNDROME was first described in 1969 in
K French (1). Salient features appear exclusively in
female infants and include infantile spasms associated with
pathognomonic chorioretinopathy, abnormalities of the
corpus callosum with heterotopia of gray matter, and
characteristic electroencephalographic findings. Costo-
vertebral and other vertebral abnormalities, including block
vertebrae and hemivertebrae, are also frequently part of
this syndrome, appearing in 10 of 15 patients in Aicardi's
original series. Subnormal mental development appears
in all patients in Aicardi's series and in other isolated re-
ports (2, 5). Dennis and Bower (5) described facial asym-
metry, plagiocephaly, and the Dandy-Walker syndrome.
To date, 27 cases have been described in the European

Fig. 2. Computed tomogram

without contrast medium reveals a
large posterior low-density struc-
ture. The third ventricle is high and
moderately enlarged. The lateral
ventricles show evidence of ab-
normal separation and dilatation.
Subependymal bulges in the oc-
cipital horn (arrow) represent het-
erotopia of gray matter. The pos-
terior low-density structure repre-
sents an enlarged fourth ventricle,
typical of the Dandy-Walker syn-
drome, and the elevated and mod-
Fig. 1. Skull radiograph reveals a borderline increase in the in- erately enlarged third ventricle is
terobital distance but is otherwise unremarkable, as were radiographs consistent with agenesis of the
of the spine. corpus callosum, possibly incom-
plete.

1 From the Departments of Radiology, Boston University Medical Center and Boston City Hospital, Boston, Mass. Submitted for publication
in June 1977 and accepted in October. evm

453
454 HAROLD E. PHILLIPS AND OTHERS
Fig. 3. Anteroposterior radiograph
of the spine demonstrates' multiple
vertebral abnormalities including
hemivertebrae and fusions.
literature. To our knowledge, the following two cases are
the first reported in this country.
CASE REPORTS
CASE I. A 28-week-old white girl presented with a history of infantile
spasms beginning at age 24 weeks. Examination of the optic fundi re-
vealed pathognomonic chorioretinopathy described as "lacunae" or
unpigmented epithelioid holes in the eyegrounds.The electroenceph-
alogram was diffusely abnormal. Skull radiographs and a tomogram
without contrast medium were obtainedandare shown in Figures 1 and
2. Further workup including pneumoencephalography was refused.
CASE II. A 10-week-old black girl experienced a seizure disorder
shortly after birth consisting of tonic infantile spasms in flexion asso-
May 1978
Fig. 4. Pneumoencephalogram demonstrates agenesis of, the
corpuscallosumwith extensionof the cystic structure in communication
with the third ventricle superiorly (arrow); the lateral ventricles are di-
lated and widely separated. An enlarged fourth ventricle is also re-
vealed.
ciated with severecyanosis. "Lacunae" were present in the optic fundi.
Skull radiographs were unremarkable except for slight asymmetry.
Radiographs of the spine, a pneumoencephalogram, and tomograms
without contrast medium were obtained and are shown in Figures
3-5.
DISCUSSION
Clinical manifestations of Aicardi's syndrome include
spasms which typically begin shortly after birth in females
but may manifest themselves as late as 24 weeks post-
partum. Tonic seizures in flexion with cyanosis become
more frequent at first, then gradually diminish in frequency.
Subnormal mental development ensues. The eyegrounds
show a pathognomonic chorioretinopathy described as
unpigmented epithelioid holes. Asymmetry of the facial
bones and-skull may also be present. Vertebral abnor-
malities, as in CASE II, also occur. Principal radiographic
manifestations are vertebral abnormalities and abnor-
malities of the skull and brain. Block vertebrae, hemiver-
tebrae, and butterfly vertibrae with abnormal costoverte-
bral articulations are seen. Facial and skull asymmetry may
be present, including an increased interorbital distance.

Vol. 127 AICARDI'S SYNDROME
Fig. 5. Computed tomograms without contrast medium show slight
asymmetry of the calvaria and enlargement of the fourth ventricle. The
higher cut demonstrates the typical findings of agenesis of the corpus
callosum and correlates well with the pneumoencephalogram.
Agenesis of the corpus callosum with heterotopic gray
matter can be seen on a CT scan and pneumoencepha-
lography. In addition, Dandy-Walker syndrome has been
associated with this syndrome. Treatment is basically
symptomatic and antiepileptic. Steroids have been tried
without success. The prognosis is guarded and dependent
on ancillary care of the child. Subnormal mental devel-
opment is inevitable. The etiology of this syndrome is un-
known. However, certain similarities to other syndromes
such as incontinentia pigmenti have led others to consider
a genetic basis. The fact that the syndrome is seen only
in females may be explained by a dominant gene in the X
chromosome which is lethal when expressed in the
male.
Pediatric
455 Radiology
In summary, Aicardi's syndrome consists of infantile
spasms. It is found exclusively in females without a family
history of the syndrome and with pathognomic choriore-
tinopathy. Heterotopic gray matter and agenesis of the
corpus callosum are also seen and vertebral abnormalities
are frequent. Psychomotor retardation is evident and
electroencephalographic findings are often characteristic.
There is no known etiology; speculation as to a genetic
basis has been made by others (5).
REFERENCES
1. Aicardi J, Chevrie JJ, Rouselle F: Le syndrome spasmes en
flexion, aqenesle calleuse, anomalies chorio-retiniennes. Arch Fr Pe-
diatr 26: 1103-1120, 1969
2. Bergeron RT: Radiographic demonstration of cortical hetero-
topia. Acta Radiol (Diag) 9:135-139, 1969
3. Brihaye J, Gillet P, Parmentier R, et al: Agenesie de la com-
missure calleuse assoclee a un kyste ependymarie, Schweiz Arch
Neurol Psychiatr 77:415-431, 1956
4. Cowen 0, Geller LM: Long-term pathological effects of prenatal
x-irradiation on the central nervous system of the rat. J Neuropathol Exp
Neurol 19:488-527, Oct 1960
5. Dennis J, Bower BD: The Aicardi syndrome. Dev Med Child
Neuro 14:382-390, Jun 1972
6. Lenz W: Zur genetik der incontinentia pigmenti. Ann Paediatr
196:149-165,1961
7. New PFJ, Scott WR: Computed Tomography of the Brain and
Orbit. Baltimore, Williams and Wilkins 1975
John F. O'Connor, M.D.
Department of Radiology
Boston City Hospital
818 Harrison Ave.
Boston, Mass. 02118