“…9 Recently, several families with this condition, but whose members did not exhibit overgrowth, have been reported to carry mutations in PDGFRB and SLA20A2, a gene encoding a type III Na/Pi transporter. 10 An impaired PDGFRB-Pit-1 pathway is thought to cause calcification in vascular smooth muscle cells (vSMCs) and blood-brain barrier disruption, resulting in delayed intracranial calcification and neuropsychiatric manifestations. 11,12 Because the 2 patients reported here were teenagers, the white matter lesion may represent the early disease stage of this PDGFRBvSMC pathology.…”