CADASIL with Atypical Clinical Symptoms, Magnetic Resonance Imaging, and Novel Mutations: Two Case Reports and a Review of the Literature
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Date
2019
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Abstract
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary microangiopathy with adult onset caused by a missense mutation in the NOTCH3 gene in chromosome 19p13. It presents with autosomal dominant arteriopathy, subcortical infarctions, and leukoencephalopathy. Its common clinical presentations are seen as recurrent strokes, migraine or migraine-like headaches, progressive dementia, pseudobulbar paralysis, and psychiatric conditions. Two patients with CADASIL syndrome, whose diagnosis was made based on clinical course, age of onset, imaging findings, and genetic assays in the patients and family members, are presented here because of new familial polymorphisms. The first patient, with cerebellar and psychotic findings, had widespread non-confluent hyperintense lesions as well as moderate cerebellar atrophy in cranial magnetic resonance scanning. The other patient, with headache, dizziness, and forgetfulness, had gliotic lesions in both cerebral hemispheres. CADASIL gene studies revealed a new polymorphism in exon 33 in the first patient. In the other patient, the NOTCH3 gene was identified as a new variant of p.H243P (c.728A > C heterozygous). By reporting a family presenting with various clinical symptoms in the presence of new polymorphisms, we emphasize that CADASIL syndrome may present with various clinical courses and should be considered in differential diagnoses. © 2019, Springer Science+Business Media, LLC, part of Springer Nature.
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Adult , CADASIL , Female , Humans , Magnetic Resonance Imaging , Mutation , Phenotype , Receptor, Notch3 , acetazolamide , acetylsalicylic acid , antidepressant agent , blood clotting factor 13 , clopidogrel , corticosteroid , donepezil , escitalopram , flunarizine , genomic DNA , homocysteine , lamotrigine , memantine , metoprolol , nonsteroid antiinflammatory agent , Notch3 receptor , quetiapine , risperidone , rivastigmine , valproic acid , venlafaxine , vitamin B complex , NOTCH3 protein, human , Notch3 receptor , 3' untranslated region , adult , aged , alpha rhythm , amino acid substitution , anticonvulsant therapy , apathy , Article , auditory hallucination , Beck Depression Inventory , benign paroxysmal positional vertigo , CADASIL , case report , cerebellar ataxia , cerebellum atrophy , clinical article , clock drawing test , corona radiata (brain) , daily life activity , depression , diabetes mellitus , differential diagnosis , diplopia , dizziness , DNA sequence , drug dose increase , electroencephalography , epileptic state , episodic tension headache , facial nerve paralysis , family history , female , gene mutation , genetic screening , headache , hemisphere , heterozygote , hippocampus , homozygote , human , hypertension , male , medical history , membrane stabilization , middle aged , migraine , Mini Mental State Examination , nausea , nuclear magnetic resonance imaging , panic , paresthesia , phonophobia , photophobia , senile dementia , suspiciousness , symptom , temporal lobe , tension headache , tonic clonic seizure , trail making test , transient ischemic attack , uncus , very elderly , visual analog scale , visual hallucination , vomiting , weakness , CADASIL , diagnostic imaging , genetics , mutation , nuclear magnetic resonance imaging , phenotype