GNE-related severe congenital macro-thrombocytopenia in pregnancy

Congenital thrombocytopenia results from mutations in genes implicated in megakaryocyte differentiation and/or platelet formation and clearance. We report the case of a 25 year old primigravida who presented with severe macro-thrombocytopenia from the age of 12 years. She delivered an alive female baby at 35 weeks of gestation. She was diagnosed to have GNE gene mutation. GNE gene encodes the key enzyme in sialic acid biosynthesis, glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE/MNK). The mutation is responsible for the reduction in sialic acid biosynthesis and consequently leads to severe congenital thrombocytopenia and/or myopathy. Although no sign of myopathy was observed in this patient; it is possible myopathy can be developed later, thus long-term follow-up with neurology is highly advisable. We recommend the genetic counselling and a segregation analysis of this variant in other affected individuals in the family.