I Leber, L. Carluer, N Derache, C. Lalevée, F. Ledoze, G.L. Defer. Unusual presentation of CADASIL with reversible coma and confusion. Neurology 2002 Oct8;59 (7):1115-16
In this article, an unusual symptom as the first breaking out of CADASIL, met by two relatives (a mother and her daughter) is described. Both had frequent headaches since their teenage years, with associated neurological signs (migraines with auras).
At the age of 50, the daughter had a time with hallucination, losses of memory and behaviour turmoil that disappeared spontaneously and totally within a few days. By a detailed interview of the mother (now aged 79), it was found she had a few days time' coma, with no identified reason, when she was sixty years old, without any after-effect. Up to now, she has never had any brain stroke, neither any decline in her intellectual faculties.
Due to these neurological symptoms, both women had MRI examinations that show some lesions that called CADASIL to the doctors' minds. This diagnosis has been later confirmed by a genetic analysis that showed the existence of a CADASIL mutation in their Notch3 gene.
Interest of this article:
- confusion and coma may reveal a CADASIL disease. These symptoms are however little frequent.
- it underlines the importance of the lesions that are observed in the brain MRI examinations for directing the diagnostics towards CADASIL
- even when their symptoms are not important, CADASIL may be evoked by aged patients.
O'Riordan S, Nor AM, Hutchinson M .CADASIL imitating multiple sclerosis: the importance of RMI markers. Mult. Scler 2002 Oct;8 (5):430-2
This article's authors recall that CADASIL, particularly at the outbreak of the disease may present some common clinical signs (paralysis) and MRI images with Multiple Sclerosis, which can lead to misdiagnosis, particularly when the patients are young. However, in CADASIL cases, MRI images show typical lesions, such as abnormalities in the brain's internal temporal lobes and in the external capsules, which permit to distinguish both diseases.
Markus HS, Martin RJ, Simpson MA, Dong YD, Powell JF. Diagnostic strategies in CADASIL. Neurology 2002 Oct 22 ;59(8) :1134-8
This article describes the medical examinations that permit to establish a CADASIL diagnosis.
It was established by studying 48 families. These tests include:
- genetic testing in order to find a mutation in the Notch3 gene, on the 19th chromosome of ADN molecule. 15 different mutations have been identified among all the families (some of them had the same mutation), most often (73%) in the area of the gene called exon 4. This prevalence permits to simplify the diagnostic by focusing first on the gene's areas where the mutation is most frequently met.
- skin biopsy: it shows abnormal sediments in the blood vessels' walls (GOM: Granular Osmiophilic Material), which are characteristic of the disease. Their presence confirms the diagnostic but these deposits are not always visible. Their absence cannot eliminate the diagnostic in 45% of the cases that are mentioned in the article)
- lesions which are observed on the MRI images, particularly in the anterior temporal pole and in the external capsules. These lesions are not sufficient for establishing a diagnostic as they are not constant and might be met in others neurological pathologies.
Written by Medical Team - Lariboisière Hospital in Paris - December 23, 2002
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