Minoia Francesca, Bertamino Marta, Picco Paolo, Severino Mariasavina, Rossi Andrea, Fiorillo Chiara, Minetti Carlo, Nesti Claudia, Santorelli Filippo Maria, Di Rocco Maja
Second Division of Pediatrics, Istituto Giannina Gaslini, Genoa, Italy.
Rare Diseases Unit, Istituto Giannina Gaslini, Genoa, Italy.
JIMD Rep. 2017;37:37-43. doi: 10.1007/8904_2017_9. Epub 2017 Mar 1.
Leigh syndrome (LS) is an early-onset progressive neurodegenerative disorder, characterized by a wide clinical and genetic heterogeneity, and is the most frequent disorder of mitochondrial energy production in children. Beside its great variability in clinical, biochemical, and genetic features, LS is pathologically uniformly characterized by multifocal bilateral and symmetric spongiform degeneration of the basal ganglia, brainstem, thalamus, cerebellum, spinal cord, and optic nerves. Isolated complex I deficiency is the most common defect identified in Leigh syndrome. In 2011, the first child with a mutation of NDUFA10 gene, coding for an accessory subunits of complex I, was described. Here, we present an additional description of a child with Leigh syndrome harboring a homozygous mutation in NDUFA10, providing insights in clinical, biochemical, and neuroradiologic features for future earlier recognition.
Leigh综合征（LS）是一种早发性进行性神经退行性疾病，具有广泛的临床和遗传异质性，是儿童最常见的线粒体能量产生障碍。除了在临床、生化和遗传特征上具有很大的变异性外，LS在病理上的特征是基底神经节、脑干、丘脑、小脑、脊髓和视神经多灶性双侧对称海绵状变性。孤立性复合体I缺乏是Leigh综合征中最常见的缺陷。2011年，首次描述了一名患有编码复合体I辅助亚基的NDUFA10基因突变的儿童。在此，我们对一名患有Leigh综合征且NDUFA10基因纯合突变的儿童进行了补充描述，为未来更早识别提供了临床、生化和神经放射学特征方面的见解。
