CADASIL or MS?

[Peg409]

My Husband was DX'd with MS in 1994 but in now being treated by the VA and they have not DX'd MS. They have two options that they are deciding between, MS or CADASIL.  His MRI findings are as follows:
  
1T MRI report findings from march 2012:
Three nonspecific punctate T2/FLAIR hyperintense foci located medial to the right temporal horn, right centrum semiovale, and left occipital lobe respectively. Differential considerations include demyelinatind disease. Lyme disease, vasculitis, migraine, and chronic microangiopathy (atypical for a patient of this age).

3T MRI report findings from Sept 2012:
No abnormality is identified on diffusion imaging. A single flair hyperintense focus within the right corona radiata is noted. There is no significant enhancement following contrast. No pattern of flair signal abnormality along the calloseptal interface is present. The ventricles and sulci are otherwise normal in size and configuration. A single vessel arising from the cavernous segment right internal carotid artery courses along the inferior middle cranial fossa/underside of the temporal lobe. The vessel appears to contact the right transverse sinus. The basal cisterns are intact.
Addendum: The exam was compared to MRI brain of 3/30/12

Impression: Single flair hyperintense focus within the right corona radiata. No specific pattern of flair abnormality suggestive of MS. No Infarction.
  
That being said, he has no family history for cadasil, strokes. He does have the typical MS symptoms. Can you please tell us what you see in these MRI reports.

My husband is 43 and has had symptoms such as blind spot, blurred vision, spasms, etc since his early 20's. These are not his only symptoms just the early first symptoms. He has had headaches (migraines) but not migraines with aura.  Any thoughts will help thank you

[Adult Neurology, M.D.]

Thanks for using the forum. I am happy to address your questions, and my answer will be based on the information you provided here. Please make sure you recognize that this forum is for educational purposes only, and it does not substitute for a formal office visit with a doctor.

Without the ability to examine and obtain a history, I can not tell you what the exact cause of the symptoms is. However I will try to provide you with some useful information.

The two MRI reports are slightly different. The first one comments on three very small FLAIR lesions and the second one only comments on one. I don’t have access to the films myself ofcourse so I will be basing my interpretations on the reports. The second MRI is a 3T MRI which has better resolution so I will tend to trust that more. Based on this report the evidence is not very strong for either MS in the brain or CADASIL.
CADASIL stands for Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,  an inherited condition that causes stroke and other impairments. This condition affects blood flow in small blood vessels, particularly in the brain. An abnormality in the muscle cells surrounding these blood vessels (vascular smooth muscle cells) gradually destroys these cells. The resulting blood vessel damage can cause migraines and other impairments of normal brain function. Later in life, the damaged blood vessels can cause strokes and memory impairments. People with CADASIL usually have a lot of MRI abnormalities on the MRI brain at time of diagnosis. CADASIL is caused by mutations in the NOTCH-3 gene. The majority of the time there is family history of CADASIL, however a few rare cases of CADASIL without family history have been reported.

MS can manifest as optic neuritis (which is usually not easily visible on MRI brain) or as MS of the spinal cord which can cause weakness, numbness, spasms of the limbs. Again MS of the spine will not be visible on the MRI brain. I am not sure about all the symptoms your husband has had or whether he has had a MRI spine. Analysing cerebrospinal fluid obtained via a lumbar tap for oligoclonal bands is also helpful for diagnosis of MS.
In summary, the MRI brain does not show good evidence for CADASIL or MS of the brain. However, your husband could still have MS affecting the spine or eyes. I recommend having your husband evaluated by a neurologist experienced with MS.

Thank you for this opportunity to answer your questions, I hope you find the information I have provided useful, good luck

[Olivia0125]

CADASIL IS OFTEN MISDIAGNOSES AS MS.  THE NATIONAL MULTIPLE SCLORSIS SOCIETY STATES THAT CADASIL SHOULD BE RULED OUT 1ST.  http://www.nationalmssociety.org/about-multiple-sclerosis/do-i-have-ms/other-conditions-your-doctor-needs-to-rule-out/index.aspx CADASIL IS A BLOOD TEST  WITH A HIGH RATE OF ACCURACY. IF IT IS NEG THEN YOU CAN BE SURE HE DOES NOT HAVE CADASIL.  IN THE MEANTIME THERE IS A GREAT SUPPORT GROUP FOR CADASIL ON FB. 'CADASIL Support.' please join us