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Authors Wang J, Li J, Kong F, Lv H, Guo Z
Received 22 May 2017
Accepted for publication 10 July 2017
Published 14 August 2017 Volume 2017:13 Pages 2175—2179
DOI https://doi.org/10.2147/NDT.S142321
Checked for plagiarism Yes
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Peer reviewers approved by Prof. Dr. Roumen Kirov
Peer reviewer comments 2
Editor who approved publication: Professor Wai Kwong Tang
Abstract: Mood disturbances have been documented in cerebral autosomal dominant
arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). The
highly varied morbidity indicates that the affective symptoms in CADASIL have
not been cataloged systematically, leading to ineffective treatment, affecting
the patients’ quality of life, and possibly resulting in suicide. We present a
case of CADASIL with bipolar II disorder as the first manifestation. A
middle-aged female reported recurrent depressive episodes and appeared
treatment resistant to adequate dosages and durations of antidepressants.
Following a structured psychiatric interview and neuropsychological assessment,
a past episode of hypomania was identified. Added treatment with sodium
valproate alleviated most symptoms. Considering late-onset bipolar disorder
with unexplained decline in cognition, a medical history of migraine, and a
suspected family history of stroke, further cranial magnetic resonance imaging
scan was performed and revealed severe leukoencephalopathy, prompting further
investigation. The diagnosis was revised to CADASIL after Arg587Cys NOTCH3 mutation was
confirmed. This case highlights the evolving process of affective disorder
diagnosis and underlying organic etiologies. Based on the overlap of white
matter hyperintensities, NOTCH3 mutation,
and valproate therapy in bipolar disorder and CADASIL, bipolar II depression
may be a poorly recognized manifestation of CADASIL. Well-designed clinical
trials are warranted to verify the current findings.
Keywords: leukoencephalopathy,
bipolar II disorder, hypomania, NOTCH3 , white
matter hyperintensities