Picker-Minh Sylvie, Mignot Cyril, Doummar Diane, Hashem Mais, Faqeih Eissa, Josset Patrice, Dubern Béatrice, Alkuraya Fowzan S, Kraemer Nadine, Kaindl Angela M
Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany.
Sozialpädiatrisches Zentrum (SPZ), Center for Chronically Sick Children, Charité - Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany.
Orphanet J Rare Dis. 2016 Apr 29;11(1):52. doi: 10.1186/s13023-016-0433-z.
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) has been recently linked to biallelic mutation of the peptidyl-tRNA hydrolase 2 gene PTRH2. Two index patients with IMNEPD in the original report had multiple neurological symptoms such as postnatal microcephaly, intellectual disability, developmental delay, sensorineural deafness, cerebellar atrophy, ataxia, and peripheral neuropathy. In addition, distal muscle weakness and abnormalities of thyroid, pancreas, and liver were found. Here, we report five further IMNEPD patients with a different homozygous PTRH2 mutation, broaden the phenotypic spectrum of the disease and differentiate common symptoms and interindividual variability in IMNEPD associated with a unique mutation. We thereby hope to better define IMNEPD and promote recognition and diagnosis of this novel disease entity.
婴儿期起病的多系统神经、内分泌和胰腺疾病（IMNEPD）最近被发现与肽基-tRNA水解酶2基因（PTRH2）的双等位基因突变有关。原始报告中的两名IMNEPD索引患者有多种神经系统症状，如出生后小头畸形、智力残疾、发育迟缓、感音神经性耳聋、小脑萎缩、共济失调和周围神经病变。此外，还发现了远端肌无力以及甲状腺、胰腺和肝脏的异常。在此，我们报告另外五名患有不同纯合PTRH2突变的IMNEPD患者，拓宽了该疾病的表型谱，并区分了与独特突变相关的IMNEPD的常见症状和个体间变异性。我们希望借此更好地定义IMNEPD，并促进对这一新型疾病实体的认识和诊断。
