Medicine · 2019
Vascular cognitive impairment associated with NOTCH3 Exon 33 mutation: A case report.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Sun Yong, Wei Yan-Jun, Xing Ying
Аннотация
RATIONALE: Vascular cognitive impairment (VCI) is a common cause of dementia. Research suggests that hereditary factors (gene mutations) play an important role in the pathogenesis of VCI, and a mutation of the NOTCH3 locus is frequently identified in affected patients. Herein, we report the case of a patient with confirmed VCI associated with a NOTCH3 exon 33 gene mutation and review the relevant VCI literature.
PATIENT CONCERNS: A 48-year-old man presented to our neurology clinic with gradually progressive cognitive impairment.
DIAGNOSES: Brain magnetic resonance imaging revealed multiple punctate hyperintensities in the patient's periventricular white matter. Genetic analysis showed a c.6744C > T, p. Ala2223Val substitution in exon 33 of the NOTCH3 gene. We diagnosed thepatient with VCI secondary to a NOTCH3 gene mutation.
INTERVENTIONS: Donepezil (5 mg) and memantine (5 mg) daily.
OUTCOMES: The patient showed symptom improvement at his 3-month and 6-month follow-up appointments.
LESSONS: This patient may have a new type of mutation that is different from the one seen in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, although it involves a NOTCH3 defect. We propose that the entire NOTCH3 gene should be sequenced in patients with suspected hereditary VCI. This practice could facilitate the discovery of newpathogenic mutations and diseases.
PATIENT CONCERNS: A 48-year-old man presented to our neurology clinic with gradually progressive cognitive impairment.
DIAGNOSES: Brain magnetic resonance imaging revealed multiple punctate hyperintensities in the patient's periventricular white matter. Genetic analysis showed a c.6744C > T, p. Ala2223Val substitution in exon 33 of the NOTCH3 gene. We diagnosed thepatient with VCI secondary to a NOTCH3 gene mutation.
INTERVENTIONS: Donepezil (5 mg) and memantine (5 mg) daily.
OUTCOMES: The patient showed symptom improvement at his 3-month and 6-month follow-up appointments.
LESSONS: This patient may have a new type of mutation that is different from the one seen in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, although it involves a NOTCH3 defect. We propose that the entire NOTCH3 gene should be sequenced in patients with suspected hereditary VCI. This practice could facilitate the discovery of newpathogenic mutations and diseases.