Рентгенология & Радиология, 2012, LI 101-106

Brain imaging findings of patients with
congenital cataracts, facial dysmorphism
neuropathy syndrom
  1. Zlatareva, T. Chamova, V. Guergeltcheva, V. Bojinova,
    A. Kaprelian, D. Tzoneva, L. Penev, I. Tournev, V. Hadjidekov

Congenital cataracts, facial dysmorphism neuropathy (CCFDN) syndrome is a rare genetic disorder of autosomal recessive inheritance, observed in patients of Gypsy ancestry. All patients are homozygous for the same mutation in the CTDP1 gene mapping to 18qter. The clinical manifestations of the disease include congenital cataracts, facial dysmorphism, peripheral neuropathy due to primary hypomyelination, intellectual impairment and involvement of central nervous system. The aim of this study is to analyze CNS magnetic resonance imaging findings of patients with CCFDN syndromeand to apply severity score system.MRI of 20 patients (10 children – 4 girls and 6 boys and 10 adults – 6 women and 4 men with CCFDN was performedon 1.5T unit. We apply severity score system (previouslyused for metachromatic leukodystrophy) to evaluate patientswith CCFDN which was adapted to the changes observed in CCFDN patients. This score system assessed WM involvement, as well as the presence of cerebral and cerebellar atrophy. We have found pathologic findings in 19 patients (95%). White matter hyperintensities were found in 18 and cerebral
atrophy in 18 patients. The severity score have varied from 0 to 18 points. In contrast to previous studies we have found higher frequency of white matter hyperintensities. The findings aremore prominent with patients’ age.

The most common MRI findings are cerebral atrophy and periventricular hyperintensities. This study gives the first detailed description of MRI findings in CCFDN syndrome patients where severity score system was applied. The score system could be applied in follow-up studies to evaluate progression of CNS findings.