Acta Neurol Belg (2015) 115:427–428
DOI 10.1007/s13760-014-0390-z
NEURO-IMAGES
Cockayne syndrome: characteristic neuroimaging features
Betty Simon • Samuel P. Oommen •
Krati Shah • Sunithi E. Mani • Sridhar Gibikote
Received: 3 September 2014 / Accepted: 2 November 2014 / Published online: 9 November 2014
Ó Belgian Neurological Society 2014
Keywords Intracerebral calcification
Cockayne
syndrome
CT
MRI
A 6-year-old boy was brought by his parents with history of
global developmental delay and progressive difficulty in
walking. He had microcephaly, prominent low-set ears and
deep-set eyes. Examination also revealed dental caries,
decreased visual acuity (6/60) with salt and pepper reti-
nopathy bilaterally. Neuro-developmental assessment
revealed a developmental age equivalent of 14 months and
bilateral spasticity of lower limbs resulting in a scissoring
gait. He also had bilateral sensorineural deafness which
was confirmed by brainstem auditory-evoked responses.
Noncontrast computed tomography (CT) of the brain
showed bilateral symmetric chunky calcification in the
basal ganglia and diffuse cortical calcification in the frontal
and parietal cortex in the depth of the sulci (Fig. 1). Sub-
sequent magnetic resonance imaging (MRI) of the brain
B. Simon (&)
S. E. Mani
S. Gibikote
Department of Radiology, Christian Medical College,
Vellore 632004, India
e-mail: drbettysimon@gmail.com
S. E. Mani
e-mail: sunithi.mani@cmcvellore.ac.in
S. Gibikote
e-mail: gibikote@cmcvellore.ac.in
S. P. Oommen
Department of Developmental Pediatrics, Christian Medical
College, Vellore, India
e-mail: docspo91@yahoo.com
K. Shah
Department of Medical Genetics, Christian Medical College,
Vellore, India
e-mail: kratishah@yahoo.co.in
showed diffuse cerebellar and subcortical volume loss with
brain stem atrophy (Fig. 2). Diffuse white matter volume
loss was associated with signal changes in the form of T2
hyperintensity in the deep white matter bilaterally sparing
the subcortical U fibers and in the external capsule (Fig. 3).
There was no abnormal enhancement on postcontrast
images. These findings had significantly progressed com-
pared to the child’s previous MRIs done when he was 1 and
2 years of age.
Discussion
Cockayne syndrome (CS) is a rare congenital disorder with
manifestations in multiple organ systems and inherited in
an autosomal recessive pattern. It has been classified as a
nucleotide excision repair disease [1]. Description of this
syndrome was first reported in 1936 by Cockayne [2].
Clinical characteristics include short stature associated
with loss of adipose tissue resulting in cachexia with
senile-like appearance, mental retardation, photosensitive
dermatitis, retinal degeneration, enophthalmos, micro-
cephaly, deafness, skeletal and neurological abnormalities
[3]. The diagnosis is usually clinical based on the charac-
teristic features. Radiological findings and DNA analysis
provide further supportive evidence [4, 5] in the diagnosis
of CS.
Intracranial calcification is mostly seen in patients
with early-onset disease. The pattern described is of
diffuse cortical calcification in the depth of sulci. Cal-
cification can also occur in the basal ganglia and dentate
nuclei [1].
The cortical and cerebellar atrophy characteristically
shows progression with increasing age. The signal changes
in the supratentorial white matter suggest hypomyelination.
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Fig. 1 Axial noncontrast CT brain showing bilateral symmetric
chunky basal ganglia calcification (a white arrows) and curvilinear
calcification at the depth of sulci in the frontoparietal and parieto-
occipital regions (b black arrows)
Fig. 2 MRI brain sagittal T1-weighted (a) and T2 coronal images
(b) showing volume loss involving the corpus callosum and the brain
stem(white arrow) and cerebellar atrophy with prominent cisterna
magna(black arrow)
The leukodystrophy on neuropathology has been found to
be of tigroid pattern with preserved perivascular myelin
within a deficient myelin area which is evident on imaging
as punctate T2 hypointense foci within the hyperintense
white matter. Tigroid pattern of leukodystrophy can be
seen in other conditions also such as Pelizaeus–Merzbacher
disease and metachromatic leukodystrophy [1].
The combination of neuroradiologic findings which
include cerebral calcification, supratentorial white matter
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Acta Neurol Belg (2015) 115:427–428
Fig. 3 MRI brain axial T2 images at the level of centrum semiovale
(a) showing diffuse long-TR hyperintensity involving the deep white
matter sparing the subcortical U fibers with tigroid pattern of
leukodystrophy (black arrows) and at the level of basal ganglia
(b) showing hyperintensity involving the external capsule bilaterally
(white arrows)
volume loss, white matter hypomyelination, brain stem and
cerebellar atrophy along with their temporal evolution
during the course of the disease can help in the differential
diagnosis of CS, distinguishing it from other leukoence-
phalopathies as well as other causes of cerebral calcifica-
tions in childhood [1].
Conflict of interest The authors would like to declare that there is
no conflict of interest.
References
1. Koob M, Laugel V, Durand M, Fothergill H, Dalloz C, Sauvanaud
F et al (2010) Neuroimaging in Cockayne syndrome. Am J
Neuroradiol 31:1623–1630
2. Cockayne EA (1936) Dwarfism with retinal atrophy and deafness.
Arch Dis Child 11:1–8
3. Cockayne EA (1946) Dwarfism with retinal atrophy and deafness.
Arch Dis Child 21:52–54
4. Lehman AR, Thompson AF, Harcourt SA, Stefanini M, Norris PG
(1993) Cockayne syndrome: correlation of clinical features with
cellular sensitivity of RNA synthesis to ultraviolet irradiation.
J Med Genet 30:679–682
5. Ozdirim E, Topcu M, Ozon A, Cila A (1996) Cockayne syndrome:
review of 25 cases. Pediatr Neurol 15:312–316