Neurological features of the CCFDN (congenital cataracts facial dysmorphism neuropathy)-syndrome

• Published in: Neuropediatrics
• Main Authors: Krammer, U, Neophytou, B, Gadner, H, Müllner-Eidenböck, A, Moser, E, Walter, M, Lochmüller, H, Gooding, R, Kalaydjieva, L
• Format: Conference Proceeding
• Language: German
• Published: 04.03.2004
• ISSN: 0174-304X; 1439-1899
• DOI: 10.1055/s-2004-819359

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