Congenital Cataract Facial Dysmorphism Neuropathy Syndrome: A Clinically Recognizable Entity

Shabo, George; Scheffer, Hans; Cruysberg, Johannes R.M.; Lammens, Martin; Pasman, Jaco W.; Spruit, Maarten; Willemsen, Michèl A.A.P.

doi:10.1016/j.pediatrneurol.2005.04.011

« Previous Next »Pediatric Neurology
Volume 33, Issue 4 , Pages 277-279, October 2005

Congenital Cataract Facial Dysmorphism Neuropathy Syndrome: A Clinically Recognizable Entity

George Shabo, MD
- Department of Paediatric Neurology, University Medical Centre Nijmegen, Nijmegen, The Netherlands
Hans Scheffer, PhD
- Department of Human Genetics, University Medical Centre Nijmegen, Nijmegen, The Netherlands
Johannes R.M. Cruysberg, MD, PhD
- Institute of Ophthalmology, University Medical Centre Nijmegen, Nijmegen, The Netherlands
Martin Lammens, MD, PhD
- Department of Neurology, University Medical Centre Nijmegen, Nijmegen, The Netherlands
- Department of Pathology, University Medical Centre Nijmegen, Nijmegen, The Netherlands
Jaco W. Pasman, MD, PhD
- Department of Clinical Neurophysiology, University Medical Centre Nijmegen, Nijmegen, The Netherlands
Maarten Spruit, MD, PhD
- Department of Orthopaedics, Sint Maartenskliniek, Nijmegen, The Netherlands
Michèl A.A.P. Willemsen, MD, PhD
- Department of Paediatric Neurology, University Medical Centre Nijmegen, Nijmegen, The Netherlands
- Communications should be addressed to: Dr. Willemsen; Department of Pediatric Neurology; University Medical Center Nijmegen; PO Box 9101; NL-6500 HB Nijmegen; The Netherlands.

Received 2 February 2005; accepted 18 April 2005.

Congenital cataracts facial dysmorphism neuropathy syndrome is a recently delineated autosomal recessive condition exclusively found in the Gypsy population. Congenital cataracts facial dysmorphism neuropathy syndrome is caused by a homozygous mutation in the CTDP1 gene, leading to disruption of the ribonucleic acid transcription machinery. This report presents a young Gypsy female affected by this rare disorder. Electromyography and sural nerve histology were in accordance with a hypomyelinating neuropathy. After clinical recognition of congenital cataracts facial dysmorphism neuropathy syndrome some years ago, we recently demonstrated the presence of the homozygous IVS6+389C→T mutation in the CTDP1 gene in this family.