Zobor Ditta, Kaufmann Dieter H, Weckerle Petra, Sauer Alexandra, Wissinger Bernd, Wilhelm Helmut, Kohl Susanne
Centre for Ophthalmology, University of Tübingen, Germany.
Ophthalmic Genet. 2012 Mar;33(1):34-8. doi: 10.3109/13816810.2011.592178. Epub 2011 Jul 5.
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.
报告一例9岁患有1型神经纤维瘤病（NF1）和贾利利综合征的儿童，后者指的是一种罕见的锥杆营养不良和牙釉质发育不全的组合。
进行了详细的眼科和电生理检查，并采集了患者及其父亲的血样，通过对NF1和古老保守结构域蛋白4（CNNM4）基因进行直接DNA测序进行分子遗传学分析。
1型神经纤维瘤病（NF1）的诊断可以通过临床和遗传学方法得到证实。此外，锥杆营养不良和牙釉质发育不全可作为一种罕见病症（即贾利利综合征）的典型特征被观察到。基于临床检查和对CNNM4基因的分子遗传学分析确诊，该基因先前已被证明可导致贾利利综合征。
我们的病例显示了NF1和贾利利综合征的独特组合。两种疾病的随机关联并不常见，值得关注。该病例不仅突出了详细临床检查的重要性，也强调了分子遗传学分析的重要性，两者共同提供了精确的诊断。
