Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1.

Abstract

PURPOSE:

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.

METHODS:

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.

RESULTS:

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.

CONCLUSION:

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.

• Authors: Ditta Zobor, Dieter H Kaufmann, Petra Weckerle, Alexandra Sauer, Bernd Wissinger, Helmut Wilhelm, Susanne Kohl
• Journal: Ophthalmic genetics (Ophthalmic Genet) Vol. 33 Issue 1 Pg. 34-8 (Mar 2012) ISSN: 1744-5094 [Electronic] England
• PMID: 21728811 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• CNNM4 protein, human
• Cation Transport Proteins
• Neurofibromin 1

Topics

• Amelogenesis Imperfecta (complications, diagnosis, genetics)
• Cation Transport Proteins (genetics)
• Child
• Color Perception Tests
• Electroretinography
• Female
• Humans
• Hypertrichosis (complications, diagnosis, genetics)
• Leber Congenital Amaurosis (complications, diagnosis, genetics)
• Magnetic Resonance Imaging
• Neurofibromatosis 1 (complications, diagnosis, genetics)
• Neurofibromin 1 (genetics)
• Photoreceptor Cells, Vertebrate (pathology)
• Polymerase Chain Reaction
• Retinal Dystrophies (complications, diagnosis, genetics)
• Retinitis Pigmentosa (complications, diagnosis, genetics)
• Visual Fields