title: Facial dysmorphism in Leigh syndrome with SURF-1 mutation and COX deficiency.
abstract: Leigh syndrome is an inherited, progressive neurodegenerative disorder of infancy and childhood. Mutations in the nuclear SURF-1 gene are specifically associated with cytochrome C oxidase-deficient Leigh syndrome. This report describes two patients with similar facial features. One of them was a 2(1/2)-year-old male, and the other was a 3-year-old male with a mutation in SURF-1 gene and facial dysmorphism including frontal bossing, brachycephaly, hypertrichosis, lateral displacement of inner canthi, esotropia, maxillary hypoplasia, hypertrophic gums, irregularly placed teeth, upturned nostril, low-set big ears, and retrognathi. The first patient's magnetic resonance imaging at 15 months of age indicated mild symmetric T2 prolongation involving the subthalamic nuclei. His second magnetic resonance imaging at 2 years old revealed a symmetric T2 prolongation involving the subthalamic nuclei, substantia nigra, and medulla lesions. In the second child, at the age of 2 the first magnetic resonance imaging documented heavy brainstem and subthalamic nuclei involvement. A second magnetic resonance imaging, performed when he was 3 years old, revealed diffuse involvement of the substantia nigra and hyperintense lesions of the central tegmental tract in addition to previous lesions. Facial dysmorphism and magnetic resonance imaging findings, observed in these cases, can be specific findings in Leigh syndrome patients with cytochrome C oxidase deficiency. SURF-1 gene mutations must be particularly reviewed in such patients.
authors.affiliation: Department of Medical Genetic, Division of Pediatric Neurology, Cerrahpaşa Medical Faculty, Istanbul University, Turkey. ayuksel@istanbul.edu.tr
authors.forename: Adnan
authors.initials: A
authors.lastname: Yüksel
authors.forename: Mehmet
authors.initials: M
authors.lastname: Seven
authors.forename: Umran
authors.initials: U
authors.lastname: Cetincelik
authors.forename: Gözde
authors.initials: G
authors.lastname: Yeşil
authors.forename: Vedat
authors.initials: V
authors.lastname: Köksal
mesh_terms: D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000209:etiology*; D030401:Cytochrome-c Oxidase Deficiency / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000201:enzymology / Q000235:genetics* / Q000473:pathology*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D024101:Mitochondrial Proteins; C092928:Surf-1 protein