A 22 year-old man from South India presented with migraine with aura and depression. Neurologically, he 
demonstrated cognitive impairment, pseudobulbar 
affect and bilateral pyramidal signs. The magnetic 
resonance imaging (MRI) scan of his brain [Figure 
1] showed increased FLAIR and T2 signals in the 
bilateral anterior temporal and frontal white matter, 

basal ganglia and external capsule. The clinical 
features and the MRI finding of bilateral white 
matter lesions in the anterior temporal pole and 
external capsule, in the absence of hypertension and 
optic nerve and spinal cord lesions, were diagnostic 
of cerebral autosomal dominant arteriopathy with 
subcortical infarcts and leukoencephalopathy 
(CADASIL).1-3  

SQU Med J, May 2011, Vol. 11, Iss. 2, pp. 284-285, Epub. 15th May 11
Submitted 3rd Jul 10
Accepted 21st Sept 10

Department of Medicine, Sultan Qaboos University Hospital, Muscat, Oman; Former affiliation: Department of Neurology, Sri 
Venkateswara Institute of Medical Sciences, Tirupati, Andhra Pradesh, India.
*Correspondning Author email: rnandagopal@yahoo.com

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CADASIL - Cerebral Autosomal Dominant 
Arteriopathy with Subcortical Infarcts and 

Leukoencephalopathy
Ramachandiran Nandhagopal

INTERESTING MEDICAL IMAGE

Figure 1:  Magnetic resonance imaging (MRI) scan of brain demonstrating increased signal in A) FLAIR image of the 
white matter in the anterior temporal region, B) frontal region, and C) T2 weighted image of the external capsule and 
basal ganglia.



Ramachandiran Nandhagopal

Interesting Medical Image | 285

CADASIL is a rare inherited neurological 
disorder that clinically manifests with migraine 
with aura, depression, stroke-like episodes before 
the age of 60 years, cognitive impairment and 
behavioral disturbances.1-4 The characteristic 
lesions, which can be seen on an MRI scan, 
involve white matter of temporal pole and external 
capsule1-3 and the lesion load is often highest in the 
frontal white matter.1-3 Although a positive family 
history might provide diagnostic support, it is 
not required in making the diagnosis.4 CADASIL 
is associated with notch 3 gene mutation and de 
novo mutation accounts for the sporadic cases;4 
however, genetic analysis was not available in our 
centre in India where the patient was seen.  Brain 
MRI scanning aids in the diagnosis of CADASIL 
in young subjects with a phenotypic manifestation 
of migraine with aura, depression, stroke and 
cognitive disturbance, but lacking conventional 
vascular risk factors such as hypertension, diabetes 
mellitus, hyperlipidaemia, obesity, smoking and 
alcohol consumption. The characteristic lesion 

distribution differentiates these cases from 
acquired white matter conditions such as multiple 
sclerosis. 

References
1.  Dichgans M, Filippi M, Bruning R, Iannucci G, 

Berchtenbreiter C, Minicucci L, et al. Quantitative 
MRI in CADASIL: correlation with disability and 
cognitive performance. Neurology 1999; 52:1361-7.

2.  Opherk C, Peters N, Herzog J, Luedtke R, Dichgans 
M. Long-term prognosis and causes of death in 
CADASIL: a retrospective study in 411 patients. 
Brain 2004; 127:2533-9.

3.  O’Sullivan M, Jarosz JM, Martin RJ, Deasy N, Powell 
JF, Markus HS. MRI hyperintensities of the temporal 
lobe and external capsule in patients with CADASIL. 
Neurology 2001; 56:628-34.

4.  Joutel A, Dodick DD, Parisi JE, Cecillon M, Tournier-
Lasserve E, Bousser MG. De novo mutation in the 
Notch3 gene causing CADASIL. Ann Neurol 2000; 
47:388-91.