Neuroimage

Band heterotopia in Zellweger syndrome (cerebro-hepato

renal syndrome)
Sandra Young, Yacov Rabi, Abhay K. Lodha
Department of Pediatrics, Division of Neonatology, Foothills Medical Centre, Alberta Children Hospital, Institute of Maternal Child
Health, University of Calgary/Calgary Health Region, Calgary, Alberta T2N2T9, Canada

m
o
fr
Zellweger syndrome (cerebro-hepato-renal syndrome)
d ns
a
is associated with generalized hypotonia, high forehead
lo tio
with flattened facies, hepatomegaly and talipes
n
equinovarus. This pattern of malformations was first
w lica
recognized in 1964 by Bowen and Smith. Zellweger
o
syndrome is an autosomal recessive genetic disorder that
d ub
is associated with multiple biochemical markers of
e P ).
e
peroxisomal dysfunction.
r
A full term, intrauterine growth restricted, male neonate f
r ow om
was born to a 32-year-old, gravida 3, para 1 mothero
via
f kn .c
spontaneous vaginal delivery. Polyhydramnios was noted
e
in the pregnancy. Fetal ultrasonography demonstrated
l talipesed ow
b
bilaterally enlarged ventricles in the brain and
n
lascores were
M
equinovarus at 29 weeks of gestation. Apgar
k
i
a presented
y ed
6 and 8 at 1 and 5min respectively. This patient
v
b
with seizures at the time of birth and had
findings
a classical
m brain showed an abnormal band that was isointense with
suggestive of Zellweger syndromesincludingd
generalized
.
e
i
t flat occiput,
matter in the subcortical region of the superior aspect
w gray
hypotonia, large anterior fontanelle (6 x 6 cm),
s
of
both
hemispheres. Dysgenesis of the corpus
w
high forehead with shallowF
supraorbital
ridges,
mild
osinglewtransverse callosumcerebral
was also noted [Figures 1 and 2].
micrognathia, weak suck,D
weak cry,
h
(
P contractures
palmar crease (simian crease),
at elbows and
e
it
is hepatomegaly,
References
knees, short humeri,
patent ductus
s
h
arteriosus and ventricular septal defect and
T a
cryptorchidism.
[1]

[2]

Figures 1 and 2: MRI of brain showing an abnormal band, isointense

with gray matter in the subcortical region of the superior aspect of
both cerebral hemispheres (Arrows). Note the dysgenesis of the
corpus callosum

1.

Zellweger syndrome is one of a number of peroxisome

biogenesis disorders that can manifest as an absence or
reduction in the number of peroxisomes in tissues as
well as multiple enzymes abnormalities. Survivors have
severe mental retardation and epileptic disorders.[2]
Zellweger syndrome is associated with abnormal cortical
gyral patterns, impaired myelination and cerebral
periventricular pseudocysts.[3] In this infant, MRI of the

2.

3.

Bowen P, Lee CS, Zellweger H, Lindenberg R. A familial syndrome

of multiple congenital defects. Bull Johns Hopkins Hosp
1964;114:402-14.
Jones KL. Zellweger syndrome (cerebro-hepato-renal syndrome).
In: Jones KL, editor. Recognizable patterns of human malformations.
6th ed. Elsevier Saunders: Philadelphia; 2006. p. 238-9.
Mochel F, Grebille AG, Benachi A, Martinovic J, Razavi F, Rabier
D, et al. Contribution of fetal MR imaging in the prenatal diagnosis
of Zellweger syndrome. Am J Neuroradiol 2006;27:333-6.

Accepted on 27-08-2006

Abhay Lodha
Foothills Medical Centre, Rm C211, 1403-29 th St NW, Calgary, AB, Canada, T2N 2T9. E-mail: abhay.lodha@calgaryhealthregion.ca

Neurology India | January-March 2007 | Vol 55 | Issue 1

93
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