Domingues Sara, Isidoro Lara, Rocha Dalila, Sales Marques Jorge
Pediatrics Department, Centro Hospitalar do Tâmega e Sousa, EPE, Unidade Padre Américo 4564-007 Penafiel, Portugal.
Pediatrics Department, Centro Hospitalar de Vila Nova de Gaia/Espinho, EPE, Unidade II, 4400-129 Vila Nova de Gaia, Portugal.
Case Rep Genet. 2014;2014:423071. doi: 10.1155/2014/423071. Epub 2014 Mar 4.
Background. Neurofibromatosis type 1 is a multisystemic, progressive disease, with an estimated incidence of 1/3500-2500. Mitochondrial diseases are generally multisystemic and may be present at any age, and the global prevalence is 1/8500. The diagnosis of these disorders is complex because of its clinical and genetic heterogeneity. Case Report. We present a rare case of the association of these two different genetic diseases, in which a heterozygous missense mutation in the NF1 gene was identified which had not yet been described (p.M1149 V). Additionally, the patient is suspected of carrying an unspecified mutation causing respiratory chain complex I deficiency. Clinical presentation included hypotonia, global development delay, reduced growth rate, progressive microcephaly, and numerous café-au-lait spots. Discussion. To the best of our knowledge this is the first report of complex I deficiency in a patient with neurofibromatosis type 1. It is very important to maintain a high index of suspicion for the diagnosis of mitochondrial disorders. In this patient, both the laboratory screening and muscle histology were normal and only the biochemical study of muscle allowed us to confirm the diagnosis.
背景。1型神经纤维瘤病是一种多系统进行性疾病，估计发病率为1/3500 - 1/2500。线粒体疾病通常也是多系统疾病，可在任何年龄出现，全球患病率为1/8500。由于这些疾病的临床和遗传异质性，其诊断较为复杂。病例报告。我们报告了一例这两种不同遗传疾病关联的罕见病例，其中鉴定出NF1基因的一个杂合错义突变（p.M1149V），此前尚未见报道。此外，该患者疑似携带一种导致呼吸链复合体I缺陷的未明确突变。临床表现包括肌张力减退、全面发育迟缓、生长速率降低、进行性小头畸形以及大量咖啡牛奶斑。讨论。据我们所知，这是首例1型神经纤维瘤病患者合并复合体I缺陷的报告。对于线粒体疾病的诊断保持高度怀疑指数非常重要。在该患者中，实验室筛查和肌肉组织学检查均正常，仅通过肌肉生化研究才得以确诊。
