CADASIL
Citation, DOI & case data
Presentation
Repeated neurological events in a 60 year old female with a family history stroke, depression and dementia.
Patient Data
Loading images...

Loading Stack -
0 images remaining

Widespread small vessel ischemic changes with involvement of the temporal lobes
4 case questions available
Q: What autosomal dominant condition can result in repeated ischaemic events, and has a predilection for involving the temporal lobes? show answer
A: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Q: How do patients with CADASIL typically present? show answer
A: Presentation is usually with recurrent transient ischaemic attacks (TIAs) or strokes in multiple vascular territories, and eventual dementia. Clinically often has similar presentation as migraines and may also have auras. Depression, psychosis, pseudobulbar palsy and focal neurological defects are also seen.
Q: Which gene is affected? show answer
A: CADASIL results from a mutation on chromosome 19q12 involving the Notch 3 gene.
Q: What is the typical distribution of white matter changes? show answer
A: Although the subcortical white matter can be diffusely involved, the frontal (93%) and temporal (86%) lobes and subinsular white matter (93%) are classical.
CADASIL Genetic Test
GENE TESTED: Notch 3 for CADASIL
RESULTS: Positive mutation for Notch 3 gene. This is a previously reported CADASIL mutation in exon 3.
Case Discussion
This case demonstrates fairly typical distribution of ischemic changes in a patient with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL). Note the prominent involvement of the temporal poles, which are usually relatively spared in run-of-the-mill chronic small vessel ischemic change.
3 articles feature images from this case
107 public playlists include this case
- White matter/ Neuro-Degenerative disease by Marya Hameed
- GK - Neuro - Brain - Vascular by GLK
- CNS Stroke / White matter / Dementia by Cary MacMillan
- Neurotut by Manish99
- White matter disease by Malcolm
- av frcr 11 by Avni K P Skandhan ◉
- 002_ZB by Johann Jende
- neuroRAD by Dr Angel Mthalane
- CADASIL by Mehmet
- neurodegenerative by NGO THI LY LY
- Small by Fernan Zambrano
- 2015 White matter disease by Philip Chan
- Neuro - confluent WM lesion adult by David Serich
- Neuropsych OSCE prep by Moe mi
- VK220123 by Johann Jende
- 29/09/2022 Brain by Joshua Yip
- Stroke by Marta Aguilar Perez
- Neuroimaging Vivas 01 by Govindasamy Nedunchezhiyan
- Neuroimaging - Brain by Ashley Hook
- White matter by Scott Robson
- My frcr 2b by Ahmed Samir
- brain tumors by ebrahim
- RANZCR 2018 practice set 4 - Neuro by Yuranga Weerakkody ◉
- NRAD by Thilo Gerhards
- GD: Neuro - White matter disease by Gurjeet Dulku
- May 5 by Ahmed Soliman Abdalla
- The Australian and New Zealand Neuropsychiatry and Behavioural Neurology Conference 2014: MRI in neuropsychiatry and behavioural neurology. by Frank Gaillard ◉ ◈
- Neuro Cases Residents by Alex Samak
- Neuro mix by Juliana Tsuruta
- White matter disease by Timothy Jeffery
- Classic Cases for Practice by Jay Starkey ◉
- CC&D education day by Simon Vann Jones
- Neuro 2 by anthony trimboli ◉
- 30072021 by Alexander Mainka
- white matter diseases by Dr. Valentin Karl Ladenhauf
- ADR White matter disease by Andres del Rio ◉ ◈
- Neuro Trauma/Vascular by Mayooran Kandasamy
- 7/5/21 by Vijaylaxmi .
- CNS & H/N by Sameh Saied Ali ◉
- JC - 9 by Jae Cho
- Brain by Roya Faghani
- Brain by Edward Chan
- Neurodegenerative by Rehan Ali ◉
- Neuroradiology for part two exam by Alexandra Murphy ◉
- 19 Neurologic Diseases by Ahmad Khedr
- neurodegenerative by Saurabh Srivastava
- CNS 101 by Sarthak J Gohel
- Neuro Viva 02/04/22 by Rima Kumari
- Lecture: Neurodegenerative - cases by Frank Gaillard ◉ ◈
- Interesting Cases by Raj Sohawon
- Frcr 40 most common FRCRII neuro Cases by Cormac O Brien
- Brain tough case by Vijaylaxmi .
- Neuro CTC by anthony trimboli ◉
- NEURO- VASCULAR by R A A
- MRI brain by Pallavi Kamat
- report writing ct 2 by Cheng Lin Ting
- 07/2021 White matter by Hai Anh Nguyen
- Neuro by Cara Lucas ◉
- Primer - Neuroradiology - Vascular Diseases by Aman
- Neuro by Daniel Hoffmann
- Viva 13 by Lam Jiahong Jeremy
- neuro PJ 11/10 by Vijaylaxmi .
- 19 Feb ZAK by Z Khan
- Neuro by Siobhan Lee
- Neuro Timography VIVA by Scott Fleming
- BRAIN, WM diseases by Tim
- tutorial 1 2021 by D.D.Ranasinghe
- neuro by nuran sabir
- neuro by Himanshu Pendse
- brain - temporal lobe by Daniela Riedl
- H O N G K O N G CASES by Ahmad Hagar
- CNS CADASIL by Ali Labeeb Alwan
- Neuro by Valentinos Charalambous
- GK - Viva - Neuro - Brain by GLK
- CNS by shabnam khalafi
- Neuro - Clinical Conditions - Vascular by Charlie Handley
- Neuroradiology by Test
- RK NEURO by Rima Kumari
- white matter disorders by D.D.Ranasinghe
- White Matter Disease by Evyn Arnfield
- Neuro viva 220422 by Rima Kumari
- Brain non sol by N Seth
- Interesting cases by Eid Kakish ◉
- Brain by Amin dehdashtian
- Demyelinating/Dysmyelinating Disorders by Marya Hameed
- N by Romain de Beauchene
- Neuro by Madeleine McGuiness
- Neuro 1 by Liam Pugh
- FRANZCR 01A Neuro by AMIRSALEH JAFARI
- neuro franzcr tute by JACOB THERAKATHU
- Neuroimaging Talk 2020-04 by Dhamidhu Eratne
- FRCR 2B AMR SAADAWY (part 7) (part 1) by Amr Saadawy
- brain by sadrarhami
- Neuroradiology by Ranjit kumar
- Stroke Cases by Brian ◉
- white matter disease by omer abo elmatty
- Neuro H&N April ZAK by Z Khan
- good cases by ravikanth
- Neuropsychiatry neuroimaging 2019 by Brad Hayhow
- GK - Neuro - Brain - White matter disease by GLK
- mila neuro by Vijaylaxmi .
- Promet Nöro by Turay Cesur
- 2b by Ian Graham
- Neuro FRCR 2B by Dr Feras Salhi
- CASES 1 by Dr. Yash jain
- 2b- 4 by richard jenkins
- Part 2 Neuro 2 by Hao Xiang
Related Radiopaedia articles
Promoted articles (advertising)
How to use cases
You can use Radiopaedia cases in a variety of ways to help you learn and teach.
- Add cases to playlists
- Share cases with the diagnosis hidden
- Use images in presentations
- Use them in multiple choice question
Creating your own cases is easy.
ADVERTISEMENT: Supporters see fewer/no ads