A Study of Congenital Protein C Deficiency With Infancy Onset of CADASIL in a Chinese Baby.

ABSTRACT:

Objective

The main objectives of this article were to study a severe congenital protein C deficiency (PCD) in a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and analyze the cause of this case.

Materials and methods

We had recorded clinical manifestations of the patient, laboratory tests, imaging studies, and gene sequencing of the PROC gene and NOTCH3 gene to study the disease in this family. We checked the change of NOTCH3 protein by immunohistochemistry.

Results

Laboratory studies of the patient had revealed that his PC activity was 3%. Magnetic resonance imaging results showed hyperintense lesions in the cerebral white matter of the patient. PROC gene and NOTCH3 gene sequencing was performed among

SUBMITTER: Yuan X 

PROVIDER: S-EPMC6493701 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature