Mannose phosphate isomerase deficiency-congenital disorder of glycosylation (MPI-CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophilia.

ABSTRACT: Mannose phosphate isomerase deficiency-congenital disorder of glycosylation (MPI-CDG; formerly named CDG type 1b) is characterized by the clinical triad of hepatopathy, protein-losing enteropathy, and hyperinsulinemic hypoglycemia in combination with coagulation disorder (thrombophilia, depletion of antithrombin, proteins C and S, factor XI). In the majority of patients, MPI-CDG manifests during early infancy or childhood. Here, we present a 15-year-old female patient with unremarkable medical history suffering from acute cerebral venous sinus thrombosis necessitating interventional thrombectomy and neurosurgical decompression. Diagnostic work-up of thrombophilia revealed deficiency of antithrombin (AT), proteins C and S, and factor XI. Detailed evaluation identified MPI-CDG as the underly

SUBMITTER: Muhlhausen C 

PROVIDER: S-EPMC7463055 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature