Novel mutations in a Chinese girl with rare symptoms of microcephaly-capillary malformation syndrome and Mowat-Wilson syndrome.

Microcephaly-capillary malformation syndrome (MIC-CAP) and Mowat-Wilson syndrome (MWS) are both rare hereditary diseases with several overlapping symptoms. We here report a Chinese patient simultaneously affected by MIC-CAP and MWS, presenting with moderate anaemia because of repeated, unilateral refractory epistaxis. The girl was initially diagnosed with MWS after discovery of a pathogenic nonsense mutation in . Starting from the age of 3 years old, the child experienced repeated epistaxis on the right side without obvious incentive or trauma. The bleeding was quite difficult to stop and her hemoglobin dropped from 124 g/L to 64 g/L in three months. Both coagulation disorders and allergic rhinitis were excluded by extensive workup and experimental therapeutics. Retrospective genetic analysis revealed that she carried two novel compound heterozygous mutations in (c.610T > C: p.Ser204Pro and c.945C > G: p.Asn315Lys). This case report demonstrates a rare presentation of MIC-CAP in the pediatric population and enriches the variant spectrum of .