A family of three children with mental retardation, calcification of the choroid plexus, and increased CSF protein is reported from the Riyadh Armed Forces Hospital, and Maternity and Children’s Hospital, Riyadh, Saudi Arabia. A 7-year-old Saudi girl born to nonconsanguinous parents showed delayed development. She sat at 3 years, walked at 5, and spoke two- to three-word phrases at 7 years of age. An 8-year-old brother and 5-year-old-sister were similarly affected. Skull radiographs, CT, and MRI showed calcifications along the distribution of choroid plexuses of the lateral ventricles, and calcification involving the caudate nucleus and septum pellucidum. In one child, these findings at 1 year were unchanged over the next 7 years. CSF protein was 180 mg/dl, while phosphate levels in the CSF were low, with a CSF/serum ratio of 0.25 cf normal of 0.73. [1]

COMMENT. Two previous reports of a family of 6 children with a similar syndrome are cited. An autopsy on one patient had shown multiple small subcortical heterotopias and adrenal atrophy [2]. That phosphate metabolism may be involved in the pathogenesis is suggested by Singh and co-authors.