Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1
Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1
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DOI：
10.3109/13816810.2011.592178
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发表时间：
2012-03-01
影响因子：
1.2
通讯作者：
Kohl, Susanne
中科院分区：
文献类型：
--
作者：
Zobor, Ditta;Kaufmann, Dieter H.;Kohl, Susanne
目的：报告1例9岁儿童神经纤维瘤病1型（NF 1）和Jalili综合征，后者是锥杆营养不良和釉质发育不全的罕见组合。进行了详细的眼科和电生理检查，并从患者及其父亲采集血样，通过NF 1和古老保守结构域蛋白4的直接DNA测序进行分子遗传学分析结果：1型神经纤维瘤病（NF 1）的诊断可以通过临床和遗传学证实。此外，锥-杆营养不良和釉质发育不全可以被观察到作为一种罕见疾病的典型特征，被认为是贾利利综合征。CNNM 4基因，这是以前被证明会导致Jalili syndrome.Conclusion：我们的情况下，显示了一个独特的组合NF 1和Jalili综合征的临床检查和分子遗传学分析的基础上的诊断是有保证的。两种疾病的随机关联是不寻常的，值得关注。该病例不仅强调了详细的临床检查的重要性，而且还强调了分子遗传分析的重要性，这些分析共同提供了精确的诊断。
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.