Case Challenge: A Man with Migraine and Behavioral Changes

Case History |
September 12, 2017

Case Challenge: A Man with Migraine and Behavioral Changes

  1. Jaime Toro, MD and
  2. Alejandra Duque, MD, Saúl Reyes, MD, Jorge Patiño, MD

What is the diagnosis? A two-part case challenge

  1. Jaime Toro, MD and
  2. Alejandra Duque, MD, Saúl Reyes, MD, Jorge Patiño, MD

A 58-year-old man presented to our neurology clinic with a history of spatial disorientation and frequent, throbbing, headaches typically of 30-minute duration and associated with nausea, vomiting, and blurred vision. His medical history was significant for a mild head injury and occasional alcohol intake. His father and sister had long histories of headaches. Over the last 3 years, his wife had noticed cognitive decline, apathy, and behavioral disorders; once he left his house undressed and passed stools into inappropriate places.

The patient's general physical examination was normal. Blood pressure was 130/80 mm Hg, pulse rate was 80 beats per minute, respiratory rate was 16 breaths per minute, and temperature was 36.7°C. Neurologic examination was unremarkable except for a mild short-term memory impairment and concrete thinking.

Figure 1
Axial FLAIR brain MRI (Panel A) showed widespread confluent white matter lesions in periventricular areas and in the centrum semiovale. Hyperintense lesions were also seen in the external capsules (Panel B), anterior temporal poles (O'Sullivan sign; Panel C), corpus callosum and pons (Panel D). Additional findings included multiple lacunar infarcts within the same areas as T2 changes (Panels A and B).Courtesy of Jamie Toro, MD; patient permission granted.
Figure 1

Axial FLAIR brain MRI (Panel A) showed widespread confluent white matter lesions in periventricular areas and in the centrum semiovale. Hyperintense lesions were also seen in the external capsules (Panel B), anterior temporal poles (O'Sullivan sign; Panel C), corpus callosum and pons (Panel D). Additional findings included multiple lacunar infarcts within the same areas as T2 changes (Panels A and B).

Courtesy of Jamie Toro, MD; patient permission granted.
Figure 2
Axial SWI showed multifocal microhemorrhages, notably in the thalamus.Courtesy of Jamie Toro, MD; patient permission granted.
Figure 2

Axial SWI showed multifocal microhemorrhages, notably in the thalamus.

Courtesy of Jamie Toro, MD; patient permission granted.

Brain magnetic resonance imaging (MRI) showed confluent periventricular and subcortical white matter lesions on T2-weighted and fluid-attenuated inversion recovery (FLAIR) sequences. In addition, there was involvement of the anterior temporal lobes, external capsules, frontoparietal regions, corpus callosum, and pons. Multiple old lacunar infarcts affecting the basal ganglia and deep white matter were also seen (see Figure 1). Susceptibility-weighted imaging (SWI) revealed numerous microhemorrhages in a cortical and subcortical distribution, predominantly involving bilateral thalami (see Figure 2). Diffuse brain atrophy was also noted.

Ancillary laboratory tests — including complete blood count, urinalysis, HbA1c, blood urea nitrogen, creatinine, lipid profile, and venereal disease research laboratory testing — were only positive for hyperlipidemia. Treatment with an HMG-CoA reductase inhibitor and acetylsalicylic acid was initiated.

What is the most likely diagnosis?

  • Frontotemporal dementia

  • Early-onset Alzheimer

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

  • Fabry disease

  • Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)

How should this patient be further evaluated?

  • Lumbar puncture

  • Genetic analysis

  • Brain biopsy

  • Electromyography and nerve conduction velocities

  • Autoimmune panel

  • Skin biopsy

  • Conventional angiography

Submit your answers in the Reader Response section. We will publish the case conclusion and discussion in an upcoming edition.

Dr. Duque is a Research Fellow, Department of Neurology, Fundación Santa Fe de Bogotá. Dr. Reyes is a resident in the Department of Neurology, Hospital Universitario Fundación Santa Fe de Bogotá, and Universidad El Bosque, Bogotá, Colombia. Dr. Patiño is a Research Fellow, Department of Neurology, Fundación Santa Fe de Bogotá.

Editor Disclosures at Time of Publication

  • Disclosures for Jaime Toro, MD at time of publication Editorial boards Multiple Sclerosis and Related Disorders

Reader Comments (59)

Sara Abrashkin-Rotaru Other Healthcare Professional, Other, Clalit Medical Services

Diagnosis:CARDASIL
Continue with genetics

Maria Gonzalez Medical Student, Universidad de los Andes

The most likely diagnosis for this case is Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

Further evaluation would require a skin biopsy

Laura Baldovino Medical Student, Universidad de los Andes

The most likely diagnosis of this patient is CADASIL. This disease is characterized by recurrent lacunar-type cerebral ischemias, usually in patients without vascular risk factors.

To guide this diagnosis, a genetic analysis of the Notch 3 gene is required.

JUAN PABLO ESPINOSA Medical Student, Colombia

CADASIL.

Genetic analysis, if it's too expensive, skin biopsy.

Angélica Paola Almeida Rodríguez Medical Student, Universidad de los Andes, Hospital Universitario Fundación Santa Fe de Bogotá

1. The most likely diagnosis for this patient is CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy).

2. Taking into account that CADASIL is a small cerebral vessels arteriopathy caused by a mutation in the NOTCH 3 gene of chromosome 19, this patient must be evaluated after with a genetic test for NOTCH 3. Biopsy may be a second choice

Andrea Gómez Medical Student, Universidad de los Andes

The most likely diagnosis is CADASIL.
I would suggest the skin biopsy (because it is actually cheaper) or the genetic analysis.

Catalina Meléndez, Medicine student Medical Student, Other

GIven the signs and symptoms of the patient, in addition to certain factors like age, I would suspect a case of CADASIL. This disease presents in middle-aged adults and includes a decrease in cognitive skills, migraines, mood changes and lesions to the brain's white matter, among other things. Given these signs are present in the patient's case I would suggest a skin biopsy, as a method do diagnose CADASIL in its early stages, because of the finding of characteristic granular collections. In addition, a genetic analysis could be made in order to search of a NOTCH3 mutation.

Cristina Meneses Medical Student, Universidad de los Andes

What is the most likely diagnosis?

I think is CADASIL. The other options are less probable for several reasons. First, frontal dementia presents with atrophy that targets the anterior insula, anterior cingulate cortex, and amygdala. Additionally, the age of onset its a little bit later, there is no presence of migraines and the behavioral changes include hyperorality and compulsive behaviors. Second, alzheimer desease will feature reduced hippocampal volume or medial temporal lobe atrophy. Along with memory impairment, other symptoms like apraxia and olfatory, dysfuntion with no migrains. Finally, CARASIL have similar clinical symptoms but the most part of the patiens present gait disturbances (spasticity) and lower back pain.

On another hand, CADASIL presents with recurrent stroke, cognitive dysfuntion (dementia) and migrains with aura. Also, lacunar infarctions, chronic lacunes, and white matter hyperintensities, are very commonly seen on antero temporal lobe and external capsule. Some present microhemoragies and brain atrophy.

How should this patient be further evaluated?

It should be perform an skin biopsy and Notch3 screening.

Natalia Jiménez Medical Student, Universidad de los Andes

El diagnóstico más probable es este caso es CADASIL, teniendo en cuenta la presencia de migrañas, deterioro cognitivo, cambios en el comportamiento y los hallazgos que fueron encontrados en los estudios imagenológicos (infartos subcorticales).
A continuación, lo más pertinente a realizar sería un estudio genético, el cual en caso de presentar la enfermedad mostraría una mutación en el gen NOTCH 3.

Diana Patricia Rivera Medical Student, Universidad de los Andes

El paciente presenta Artropatía cerebral autosómica dominante con infartos subcorticales y leucoencefalopatía (CADASIL) ya que presenta síntomas característicos como dolores de cabeza repetitivos asociados a nauseas , vómito y alteraciones visuales. Por otro lado, el paciente mostrado tiene deterioro cognitivo y desordenes en el comportamiento que también se presentan en esta patología. En cuanto a las imágenes, en el CADASIL es común encontrar infartos lacunares, micro hemorragias y atrofia cerebral. Como esta enfermedad consiste en una mutación en el receptor Notch3 que genera una degeneración progresiva de las células musculares lisas en los vasos sanguíneos, su diagnóstico final se debe realizar con un análisis genético en busca de esta mutación.

María José Lizarazo Jimenez Medical Student, Universidad de los Andes

El diagnóstico más probable para el paciente del caso clínico es Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). En primer lugar la sintomatología del paciente es muy acorde a esta patología. Se presenta migraña con aura, que involucra dolores de cabeza repetitivos los cuales pueden ir acompañados de náuseas y vómitos , además de alteraciones visuales también manifestadas por el paciente. Por otro lado, el paciente presenta deterioro cognitivo que se puede presentar en el 60% de pacientes sintomáticos con CADASIL; los infartos lacunares que se encontraron en el paciente pueden estar relacionados con la presencia de este síntoma. Síntomas neuropsiquiatricos que se muestran en esta enfermedad también fueron manifestados por el paciente como la apatía y los desórdenes en el comportamiento. Otro factor importante que se debe tener en cuenta a la hora de realizar este diagnóstico es la edad de presentación de los síntomas, en el CADASIL, sucede en la adultez la mayoría de veces, como fue el caso de este paciente. En segundo lugar en la MRI, en el CADASIL es común encontrar lesiones en el lóbulo anterior temporal así como en la capsula externa, además de infartos lacunares , micro hemorragia y atrofia cerebral.
Cuando se tiene esta sospecha diagnostica se debe realizar un screening genético con el fin de identificar mutaciones que se localizan en la región extracelular de receptor transmembrana Notch3. Además se puede realizar un biopsia para identificar material osmófilo granular, presente en CADASIL .

Diego Chamorro Medical Student, Universidad de los Andes

Debido a la presentacion clínica y a los antecedentes del paciente es probable que padezca una arteriopatía cerebral autosómica dominante con infartos subcorticales y leucoencefalopatía (CADASIL , por sus siglas en ingles).
La edad de presentacion de esta patología oscila entre la quinta y sexta de la vida, generalmente el paciente refiere antecedentes familiares de migraña y se presenta clínicamente con episodios recurrentes de migraña con aura, alteraciones en la marcha o manifestaciones de tipo psiquiátrico.
En este caso, el paciente reporta el episodio de migraña y se refieren manifestaciones de alteración en el comportamiento (apatía, desordenes en el comportamiento, el hecho de salir de casa desnudo); sumado a los resultados de las imágenes diagnosticas que evidencian lesiones lacunares predominantemente los ganglios basales y la materia blanca profunda, con un claro compromiso de los lóbulos anteriores, capsula externa y regiones frotnoparietales sugiere la presencia de un trastorno en las arterias menores del cerebro.
El siguiente paso seria realizar un análisis genético que permita identificar mutaciones o alteraciones en el gen NOTCH3.

Danna Puerto Medical Student

Given the characteristics of the lesions shown (lacunar infarcts, hyperintensities in the white matter ...), the headaches and the uninhibited behavior suggest a diagnosis of CADASIL. I would suggest skin biopsy or genetic studies.

Natalia Herrera Medical Student, Unspecified, Universidad de los Andes

La cefalea tipo migraña y los cambios en el comportamiento, con las asociaciones de las imágenes diagnósticas (infartos lacunares subcorticales y alteraciones en el lóbulo temporal anterior) indican seguramente un diagnóstico de CADASIL. EL CARASIL lo descarto porque no son muy comunes las migrañas y generalmente hay alopecia.
El examen más apropiado para confirmar el diagnóstico es un estudio genético

Rafael Toro Medical Student

El diagnostico más probable de este paciente es CADASIL de acuerdo a la presentación, historia y a los hallazgos en las imágenes. El paciente debería ser evaluado con un estudio genético específicamente estudiar el NOTCH3

Sara Medellin Medical Student

De acuerdo a la historia clínica del paciente el diagnóstico más probable para este caso es CADASIL. La presentación de migrañas y la historia familiar del paciente concuerdan con la patología. Adicionalmente las imágenes diagnosticas confirman múltiples lesiones relacionadas con alteraciones vasculares. Debido a que es una enfermedad hereditaria debe ser evaluado mediante estudios genéticos, más específicamente NOTCH3.

Nathaly Moreno Arenas Medical Student

According to the presented history, the patient age, symptoms and findings on the MRI, it is highly possible the diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). However, further research must be done with genetic analysis and a skin biopsy to confirm the diagnosis.

Dr Amjad Iqbal Physician, Neurology, Sindh social security institution Pakistan

Autoimmune small vessels disorder , this age is not in favour of Casals or cadasl
Or this more in favour of small vessels disease /Wilson's disease

Hon sou

Carasil
Genetic testing

Andrea Salazar Medical Student, Colombia

The most likely diagnosis that better explains the whole clinical presentation of the patient ( the migraine like headache, the cognitive impairment and behavioural changes, family history ) alongside the findings in brain images (diffuse brain atrophy, microhemorrhages and leukoencephalopathy) is CADASIL.
Diagnosis can be confirmed either with documentation of a NOTCH3 mutation by genetic analysis or documentation of ultrastructural GOM deposits within small blood vessels by skin biopsy.

Manuela Jaramillo P. Medical Student, Colombia

Most likely: CADASIL.
The patient had the four main symptoms seen in these hereditary disease. 1. migraines 2. psychiatric symptoms 3. dementia 4. recurrent strokes.
He would need a skin biopsy, which has a 100% of specificity but only 45% of sensibility.

Mohammed AlKhateeb MD, Ass. Prof. Internal Medicine & Cardiology Physician, Internal Medicine, AlKhateeb Private Clinic, Iraq

The most likely diagnosis is CADASIL.

The history of migraine, aura plus behavioral changes including memory impairment of organic cause correlated with MRI findings of lesions in white matter, the atrophy and multiple lacunar strokes.
Skin biopsy & further bu genetic analysis of NOTCH 3 gene would be essential.
Regards

Laura Aldana, Medical Student Medical Student

The diagnostic that I think it is most likely to have this patient is cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy or CADASIL. The patient has migraine and psychiatric disturbances which are common in this disease, 55-75% of caucasians and 20-41% respectively. Also, the patient has personality disturbances that are less common but can be present in this disease. It is important to mention that CADASIL is a form of cerebral small vessel disease, which is an important cause of stroke, cognitive impairment, and mood disorders as seen in the patient by his wife. Despite, that the most common forms of cerebral small vessel disease are sporadic, due to age and hypertension, a minority of the etiologies of this disease can be genetic. For that reason, a positive factor that make us think in this diagnostic is that the patient has a positive family history because his sister and father had long histories of headache.
In addition, the literature report that there is no pathognomonic lesions but usually in this pathology, cerebral MRI shows extensive white matter changes, with frequent involvement of external capsule and confluent bilateral anterior temporal pole T2-hyperintensities. In this patient, the report says that the MRI showed confluent periventricular and subcortical white matter lesions on T2-weighted and there was involvement of the anterior temporal lobes, external capsules, frontoparietal regions, corpus callosum, and pons. As we said before the first and second findings are really common in this disease.
In my opinion this patient should be further evaluated with a genetic analysis, not only to confirm the diagnostic (a mutation in NOTCH3) but also to offer genetic counseling to him and his relatives.

references: Di Donato I, Bianchi S, De Stefano N, et al. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects. BMC Medicine. 2017;15:41. doi:10.1186/s12916-017-0778-8.

Laura Aldana, Medical Student Medical Student, Colombia

The diagnostic that I think it is most likely to have this patient is cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy or CADASIL. The patient has migraine and psychiatric disturbances which are common in this disease, 55-75% of caucasians and 20-41% respectively. Also, the patient has personality disturbances that are less common but can be present in this disease. It is important to mention that CADASIL is a form of cerebral small vessel disease, which is an important cause of stroke, cognitive impairment, and mood disorders as seen in the patient by his wife. Despite, that the most common forms of cerebral small vessel disease are sporadic, due to age and hypertension, a minority of the etiologies of this disease can be genetic. For that reason, a positive factor that make us think in this diagnostic is that the patient has a positive family history because his sister and father had long histories of headache.
In addition, the literature report that there is no pathognomonic lesions but usually in this pathology, cerebral MRI shows extensive white matter changes, with frequent involvement of external capsule and confluent bilateral anterior temporal pole T2-hyperintensities. In this patient, the report says that the MRI showed confluent periventricular and subcortical white matter lesions on T2-weighted and there was involvement of the anterior temporal lobes, external capsules, frontoparietal regions, corpus callosum, and pons. As we said before the first and second findings are really common in this disease.
In my opinion this patient should be further evaluated with a genetic analysis, not only to confirm the diagnostic (a mutation in NOTCH3) but also to offer genetic counseling to him and his relatives.

Mohamad Anadani Resident, Neurology

Clinical picture already no with MRI findings suggest CADASL. I will proceed with skin bx

Nohemi Caballero Medical Student

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. The blood vessels damage explains que migraine symptoms. His father and sister had similar history of headaches which would imply an autosomal dominant inheritance pattern. Genetic test would show mutations in NOTCH3, which have been identified as the underlying cause of CADASIL.

Renn Holness

sounds like cadasil ;would do skin biopsy

Juliana Machado Resident, Infectious Disease, Brasil

IT's necessary more dates about familiar hystory of tis patient, but my impression about the diagnose is CARASIL, because the patient is a male. Then I will evaluate a skin biopsy about norch to confirm my impression.

Taweevat Assavapokee Physician, Geriatrics

CADASIL

Genetic testing to detect mutations in NOTCH3

Immunostaining skin biopsy specimens for NOTCH3 protein

Senol,MD Physician, Neurology, Training Hospital

Migraine occurs in approximately 35% of individuals with CADASIL.In the MR examination, u fibers were retained, the temporal area affected. MRI We will check genetic test and skin biopsy.

Natalia Botero Medical Student
Competing Interests: I am a medical student from Universidad de los Andes and recently had my clinical rotation at the Department of Neurology, Fundación SantaFe de Bogota. However, I didn't met the case or had access to the medical record.

Most likely diagnosis: CADASIL.
It's a young patient in his 50s with headache and dementia. Headache has migraine characteristics with aura, he has cognitive decline and psychiatric manifestations. Images show vascular compromise of small arteries and their territories, and brain atrophy as well. There is family history of headaches, one affected parent, that would suggest an inherited disorder. No known family history of dementia, but in CADASIL not every mutation carrier develops dementia.
I would suggest a skin biopsy to study small blood vessels: GOM deposits.

María Martínez-Ruiz Physician, Other, Guadalajara, México

The most likely diagnosis is CADASIL because the history of migraine, aura and the behavioral disorders, that we can correlate with the MRI findings in the white matter, the atrophy and multiple lacunar strokes. I don't choose CARASIL because he don't have history of lumbago and alopecia. The diagnosis should confirm with genetic test.

Manuel Seijo-Martinez MD Physician, Neurology, Neurology Service, Complexo H. Pontevedra, Spain

Diagnosis: CADASIL, based on a clinical basis (middle-aged patient with episodic migraine, "subcortical" dementia) and neuroradiological imaging with a vascular leukoencephalopathy with extensive microangiopathy.

Diagnostic procedure: a genetic test of the NOTCH3 gene or skin biopsy with ME showing typical GROD deposits in the tunica media of the small arteries/NOTCH3 inmunostaining.

Miguel Jose Tejeda Camargo Physician, Cardiology, Hospital San Jose. Bogota Colombia.

I believe that the clinical history and the imaging findings as the first possibilities can be found in CADASIL and CARASIL. The diagnosis of Alzheimer's Early-Onset or frontotemporal dementia is not very common due to the multiple lacunar infarcts without this being exclusive. The clinical history of migraine is frequent in CADASIL, however there is no family history of dementia or stroke that supports clinical suspicion. There are no other clinical data suggesting fabry's disease (no angiokeratomas, renal failure, corn-like opacities or LVH). Finally the extent of the lesions; the temporalis lobes, external capsules, frontoparietal regions, corpus callosum, and pons would correlate more with the diagnosis of CARASIL in this condition the skin biopsy is not diagnosed so the study of evaluation would be a genetic analysis.

Figueredo, Med. Student Medical Student, Other, Colombia

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, usually called CADASIL, is an inherited condition that causes stroke and other impairments. Some characteristics are a the compromise of small vessels (associated with strokes) can cause migraine, and memory impairment with changes in behavior. It could be suspected in history of one affected parent. A genetic test could show a alteration in NOTCH3 gene.

Carolina Ferreira Atuesta Physician, Unspecified, London

The most likely diagnosis is CADASIL.

The behavioral variant of Frontotemporal Dementia presents with desinhibition and loss of apathy, but they MRI is normal in the early stages and usually presents with focal frontal and/or temporal atrophy, which is not the case (this patient presents wth diffuse atrophy).

Early onset AD must be included in the ddx of a patient with cognitive decline (specially episodic memory; behavioral and personality changes don’t present in the early stages of EO AD) and familial history of early onset dementia. Testing should include PSEN1, PSEN1 and APP genetic analysis. The patient’s history don’t follow this characteristics.

The clinical symptoms of glycosphingolipidoses like Fabry Disease develop in the early adolescent and usually presents with acroparesthesiae and severe pain in hand and feet commonly triggered by hot weathers. They also have renal and cardiac comorbities. Diagnosis would be through demonstration of reduced alpha galactosidase A enzyme activity. The patient’s presentation differs from the classic Fabry Disease natural history.

CADASIL is a small cerebral vessels arteriopathy caused by a mutation in the notch 3 gene of chromosome 19. The classic presentation is episodic migraine-like headaches and recurrent subcortical ischemic strokes. Age of presentation is mid-adulthood. Motor and sensory deficits develop, mainly cognitive impairment, pseudo bulbar palsy and subcortical dementia. The MRI shows confluent white matter disease involving the anterior temporal horn and external capsule and multiple small infarcts that spare the U fibers. The patient’s natural history, clinical signs and symptoms and imaging, precisely follow CADASIL’s presentation. Diagnosis can be confirmed with genetic testing of notch 3 mutations; skin biopsy can also be done and it would reveal non amyloid angiopathy with eosinophilic electron dense granular material in small arteries.
On the contrary, CARASIL presents with subcortical strokes but migraine is not common. This pathology is more common in patients with Japanese ancestry.

Vanessa Medical Student, Universidad catolica de santiago de guayaquil

Dx: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

Genetic analysis and Skin biopsy

Chris Hawkes MD Physician, Neurology, London

CADASIL
Gene analysis for major mutations

Juan David Vecino Mantilla Medical Student, Universidad de los Andes

El diagnóstico que considero más probable es: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Este diagnóstico coincide con la cefalea tipo migraña que presenta el paciente y también con los hallazgos que hacen pensar en una demencia frontotemporal. El vómito, las náuseas y la visión borrosa coinciden con la migraña y los cambios comportamentales están relacionados con la demencia frontotemporal. Este diagnóstico también coincide con los hallazgos en las imágenes de las lesiones vasculares en distribución cortical y subcortical.
El examen que se le debe realizar al paciente es un análisis genético.

Manuel García Physician, Neurology, Colombia

This patient has clinical features of CADASIL with a early onset cognitive decline, executive dysfunction and headache. Attacks of migraine with aura with headache lasting for hours are a feature in CADASIL but atypical presentation of headache is not uncommon. History of family headache is remarkable since this entity is a dominant autosomal disorder.
MRI shows classic findings with a simmetric and difusse pattern of leucoencefalophaty, atrophy and microhemorrhages. The next step with this patient could be to confirm the diagnosis with genetic analisys (NOTCH 3 mutation).

CARLA MARTINS Physician, Internal Medicine, Hospital de São Sebastião, SMF, Portugal

I think it's CADASIL. We should have a genetic test. In case of difficulties with this, we should do a skin biopsy

Katja Bryant NP Nurse/NP/PA, Neurology, Community Hospital/OP

•Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)
Diagnotic:
•Genetic analysis, CARASIL is caused by mutations in the HTRA1 gene
Stroke prevention, Antiplatelets, Statins based on labs, monitor leukocytes
Family history

Tiffany Krahn Other Healthcare Professional, Other

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

Genetic analysis

* * Other, Health Law/Ethics/Public Policy, Ratliff law office

CADASIL
genetic testing

James Dale

This is CADASIL, an inherited vascular disease of the cerebral microcirculation. The migraine headaches, cognitive decline, and apathy are classic symptoms. The lacunar infarcts in the subcortical areas are also typical of this fatal disorder.

Saumya Mittal. MD DM Resident, Neurology, KMC Mangalore

CADASIL.
Skin Biopsy

FLORIAN LANDERTSHAMMER Geriatrics, St. Elisabeth Hospital, Linz, Austria

Oligosymptomatic/prediagnostic Mb. Fabry?
Kind regards, F. Landertshammer

Himanshu Agarwal, MBBS, MD, DM Other Healthcare Professional, Neurology, Max Super Speciality Hospital, Saket

This Case seems to be a CADASIL, we should to do Genetic Analysis

saddek khellaf Physician, Neurology, Constantine, Algeria

CADASIL
Genetic analysis.

Faiss , Juergen Prof. Dr. Physician, Neurology, AFK Teupitz, Dept. Neurology, 15755 Teupitz, Germany

CADASIL, genetic analysis

Arathi R

CADASIL

Vijaya Lakshmi pokala Physician, Neurology, Hyderabad

Cadasil u ve to do skin biopsy

Vijayashankara CN. MD, MRCP Physician, Pediatrics/Adolescent Medicine, Bengaluru, India

Most likely to be Autosomal dominant subcortical infarction and leucoencephalopathy.
I would ask for a conventional cerebral arteriography and genetic analysis.

Sunil K.Narayan MBBS PhD Physician, Neurology, India

A Case of CADASIL. Further investigated by Genetic analysis by Notch 3 mutations and/or skin biopsy for Granular osmophilic material (GOM staining).

rolando cosacov Physician, Neurology, Argentina

Diagnosis: (CADASIL)

Test :Skin biopsy or gentetic test NOTCH3

rolando cosacov Physician, Neurology, Argentina

Diagnosis: (CADASIL)

Test :Skin biopsy or gentetic test NOTCH3

rolando cosacov Physician, Neurology, Argentina

Diagnosis: (CADASIL)

Test :Skin biopsy or gentetic test NOTCH3

rolando cosacov Physician, Neurology, Argentina

Diagnosis: (CADASIL)

Test :Skin biopsy or gentetic test NOTCH3

Sebastián Vásquez Resident, Neurology, Universidad del Rosario / Fundación CardioInfantil

In this patient, a history of migraine headaches, in addition to a cognitive decline (either in terms of mild cognitive impairment or dementia, by definition), extreme capsule and anterior temporal lobe involvement in MRI and images of lacunes in the basal ganglia, the most likely diagnosis is CADASIL (in my opinion, less probablity for CARASIL in a patient without alopecy and no spine abnormalities).
He could be evaluated further bu genetic analysis of NOTCH 3 gene; however, skin biopsy as I remember has also a great specificity, althpugh I´m not much familiar with that knowledge.

Regards.

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