Choroido-cerebral calcification syndrome with retardation.
Incidence
Very rare condition. Some 10 cases have been reported in 2 families. Consanguinity, a horizontal distribution, and expression in both sexes favor an autosomal recessive mode of inheritance. However, involvement of six of six children in one family and three of four in another makes this unlikely.
Clinical Characteristics
B. Singh et al in 1993 presented a sibship with a rare syndrome characterized by mental retardation, dense calcification of the lateral ventricular choroid plexus, and increased CSF protein. Neurophysiologic studies yielded nonspecific results, and endocrine studies, including parathormone levels, were normal. Simultaneous measurements of CSF and serum calcium, magnesium, and other electrolytes were normal, but the CSF/serum ratio of phosphate was low (patients showed phosphate levels in the CSF that were strikingly low, with a CSF/serum ratio of 0.25 compared with a reported normal ratio of 0.73), suggesting a possible role in the pathogenesis of this syndrome. Skull radiographs of the three patients revealed calcifications along the distribution of the choroid plexuses of the lateral ventricles. High-resolution CT showed that the calcification involved the entire choroid plexus of the lateral ventricles bilaterally and symmetrically. Consanguinity, a horizontal distribution, and expression in both sexes favor an autosomal recessive mode of inheritance. However, involvement of six of six children in one family and three of four in another makes this unlikely.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
It is a clinical and radiological diagnosis.