PMC7500095_01
Summary of presentation and diagnosis for Case 1.
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F1
The patient's data were reviewed for the past 19 years when she was first diagnosed with MS (Figure 1).
(A) Case 1: Axial cerebral T2-FLAIR image demonstrates T2 hyperintense signal in periventricular area. (B) Case 1: Axial T2-FLAIR image after 10 years demonstrates significant worsening of T2 hyperintense signal in periventricular and subcortical areas with multiple prominent lacunar infarcts as well as cortical atrophy. (C) Case 2: Axial cerebral T2-FLAIR showing confluent white matter hyperintensities in bilateral temporal lobes. (D) Case 3: Axial cerebral T2-FLAIR: small foci of T2-FLAIR hyperintensity in the frontal lobe.
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F2
T2 hyperintense lesions in the frontal and parietal lobes (Figure 2D). The clinicians diagnosed her as having an aggressive form of relapsing-remitting MS and decided to start dimethyl fumarate (disease-modifying therapy).
PMC7500095_02
(A) Case 1: Axial cerebral T2-FLAIR image demonstrates T2 hyperintense signal in periventricular area. (B) Case 1: Axial T2-FLAIR image after 10 years demonstrates significant worsening of T2 hyperintense signal in periventricular and subcortical areas with multiple prominent lacunar infarcts as well as cortical atrophy. (C) Case 2: Axial cerebral T2-FLAIR showing confluent white matter hyperintensities in bilateral temporal lobes. (D) Case 3: Axial cerebral T2-FLAIR: small foci of T2-FLAIR hyperintensity in the frontal lobe.
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F2
T2 hyperintense lesions in the frontal and parietal lobes (Figure 2D). The clinicians diagnosed her as having an aggressive form of relapsing-remitting MS and decided to start dimethyl fumarate (disease-modifying therapy).
Summary of clinical presentations and diagnosis for Case 2.
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F3
Fifteen years after the initial episode, the patient started complaining of mild memory loss, increased numbness in hands and feet, and worsening migraine headaches (Figure 3).
PMC7500095_03
(A) Case 1: Axial cerebral T2-FLAIR image demonstrates T2 hyperintense signal in periventricular area. (B) Case 1: Axial T2-FLAIR image after 10 years demonstrates significant worsening of T2 hyperintense signal in periventricular and subcortical areas with multiple prominent lacunar infarcts as well as cortical atrophy. (C) Case 2: Axial cerebral T2-FLAIR showing confluent white matter hyperintensities in bilateral temporal lobes. (D) Case 3: Axial cerebral T2-FLAIR: small foci of T2-FLAIR hyperintensity in the frontal lobe.
fneur-11-00860-g0002.jpg
PMC7500095_03_fneur-11-00860-g0002.jpg
F2
T2 hyperintense lesions in the frontal and parietal lobes (Figure 2D). The clinicians diagnosed her as having an aggressive form of relapsing-remitting MS and decided to start dimethyl fumarate (disease-modifying therapy).
Summary of clinical presentations and diagnosis for Case 3.
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F4
The genetic testing revealed that the patient had a cysteine altering mutation in higher domains of the NOTCH3 gene (NM_000435.2:c.3691C>T [p.Arg1231Cys]) that causes a milder form of CADASIL (Figure 4).