1. Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1
- Author
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Dieter Kaufmann, Ditta Zobor, Susanne Kohl, Bernd Wissinger, Alexandra Sauer, Petra Weckerle, and Helmut Wilhelm
- Subjects
congenital, hereditary, and neonatal diseases and abnormalities ,Pathology ,medicine.medical_specialty ,Neurofibromatosis 1 ,Amelogenesis Imperfecta ,Leber Congenital Amaurosis ,Hypertrichosis ,Polymerase Chain Reaction ,Jalili syndrome ,Retinal Dystrophies ,Electroretinography ,medicine ,Humans ,Amelogenesis imperfecta ,Neurofibromatosis ,Child ,Cone-Rod Dystrophy ,Cation Transport Proteins ,Genetics (clinical) ,Color Perception Tests ,Neurofibromin 1 ,business.industry ,Dystrophy ,Amelogenesis ,medicine.disease ,Magnetic Resonance Imaging ,Molecular analysis ,Ophthalmology ,Pediatrics, Perinatology and Child Health ,Female ,Visual Fields ,business ,Retinitis Pigmentosa ,Photoreceptor Cells, Vertebrate - Abstract
To report a case of a 9-year-old child with neurofibromatosis type 1 (NF1) and Jalili syndrome, the latter denoting a rare combination of cone-rod dystrophy and amelogenesis imperfecta.Detailed ophthalmological and electrophysiological examinations were carried out and blood samples were taken from the patient and her father for molecular genetic analysis by direct DNA sequencing of the NF1 and the ancient conserved domain protein 4 (CNNM4) gene.The diagnosis of neurofibromatosis type 1 (NF1) could be confirmed clinically and genetically. Furthermore, cone-rod dystrophy and amelogenesis imperfecta could be observed as typical features of a rare condition, acknowledged as Jalili syndrome. The diagnosis was assured on the basis of clinical examinations and molecular genetic analysis of the CNNM4 gene, which was previously shown to cause Jalili syndrome.Our case shows a unique combination of NF1 and Jalili syndrome. The random association of two diseases is unusual and deserves attention. This case highlights the importance not only of detailed clinical examination, but also of molecular genetic analysis, which together provide a precise diagnosis.
- Published
- 2011