Background: The CCFDN Syndrome is a rare autosomal recessive developmental disorder which was
recently identified genetically.
Purpose: To determine the nature and course of the neurological abnormalities in CCFDN Syndrome.
Methods: In 9 affected male individuals aged 1.5 to 16.5 years, who were recruited during
a study of congenital cataracts, genetic analysis of the CCFDN locus was done. All
patients underwent a standardized neurological examination, as well as magnetic resonance
imaging of the brain, nerve conduction velocity, electroencephalography, and neuropsychological
testing. Additionally, muscle biopsy was done in some patients.
Results: All patients were homozygous for the IVS6+389 C>T mutation in CTDP1 on chromosome 18qter and showed bilateral congenital cataracts, a peripheral demyelinating
neuropathy, varying degrees of ataxia and a developmental delay. In the older children
facial dysmorphism, muscular atrophies in distal muscles, short stature, skeletal
deformities and mild intellectual deficit were evident.
Conclusion: Awareness of the described symptoms (congenital cataracts, delayed motor skills,
progressive peripheral neuropathy) by pediatric neurologists may lead to an early
diagnosis, which is of great benefit in terms of specialised medical care and genetic
counselling.
Keywords: CCFDN, neuropathy, congenital cataract