GNE myopathy (GNEM) is a late-onset distal myopathy possibly related to sialic acid deficiency. Clinicians in China report the observation of a patient with GNEM in whom a significant decrease in blood platelets was noted:
- the 29 year old patient had a muscle deficit that had been evolving for three years;
- the distribution of the deficit and the presence of bordered vacuoles on the muscle biopsy strongly suggested the diagnosis of GNEM;
- the diagnosis was confirmed by molecular biology due to the presence of two composite pathological variants of the GNE gene;
The authors point out that other cases associating thrombocytopenia and GNEM have already been reported in the literature and hypothesise a non-random association.
