7/24/2019 Ni 07035

1/1CMYK

c

o

m

(www

Neuroimage

Band heterotopia in Zellweger syndrome (cerebro-hepato

renal syndrome)

ThisPD

Fisavailable

forfr

eedow

nload

from

asite

hostedb

yMedkn

owPublic

ation

s

.medkn

ow

Sandra Young, Yacov Rabi, Abhay K. Lodha

Department of Pediatrics, Division of Neonatology, Foothills Medical Centre, Alberta Children Hospital, Institute of Maternal ChildHealth, University of Calgary/Calgary Health Region, Calgary, Alberta T2N2T9, Canada

Zellweger syndrome (cerebro-hepato-renal syndrome)is associated with generalized hypotonia, high foreheadwith flattened facies, hepatomegaly and talipesequinovarus. This pattern of malformations was first

recognized in 1964 by Bowen and Smith. [1] Zellwegersyndrome is an autosomal recessive genetic disorder thatis associated with multiple biochemical markers ofperoxisomal dysfunction.[2]

A full term, intrauterine growth restricted, male neonatewas born to a 32-year-old, gravida 3, para 1 mother viaspontaneous vaginal delivery. Polyhydramnios was notedin the pregnancy. Fetal ultrasonography demonstratedbilaterally enlarged ventricles in the brain and talipesequinovarus at 29 weeks of gestation. Apgar scores were6 and 8 at 1 and 5min respectively. This patient presented

with seizures at the time of birth and had classical findingssuggestive of Zellweger syndrome including generalizedhypotonia, large anterior fontanelle (6 x 6 cm), flat occiput,high forehead with shallow supraorbital ridges, mildmicrognathia, weak suck, weak cry, single transversepalmar crease (simian crease), contractures at elbows andknees, short humeri, hepatomegaly, patent ductusarteriosus and ventricular septal defect andcryptorchidism.

Figures 1 and 2: MRI of brain showing an abnormal band, isointensewith gray matter in the subcortical region of the superior aspect of

both cerebral hemispheres (Arrows). Note the dysgenesis of thecorpus callosum

brain showed an abnormal band that was isointense withgray matter in the subcortical region of the superior aspectof both cerebral hemispheres. Dysgenesis of the corpuscallosum was also noted [Figures 1 and 2].

References

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

Zellweger syndrome is one of a number of peroxisomebiogenesis disorders that can manifest as an absence or

reduction in the number of peroxisomes in tissues aswell as multiple enzymes abnormalities. Survivors havesevere mental retardation and epileptic disorders.[2]

Zellweger syndrome is associated with abnormal corticalgyral patterns, impaired myelination and cerebralperiventricular pseudocysts.[3]In this infant, MRI of the

of multiple congenital defects. Bull Johns Hopkins Hosp

1964;114:402-14.

2. 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.

3. 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 LodhaFoothills 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 9 3