Kearns-Sayre syndrome "plus": classical clinical findings and dystonia

Abstract

We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia. The skeletal muscle biopsy demonstrated ragged red fibers, cytochrome C oxidase-negative and succinate dehydrogenase-positive fibers. The magnetic resonance imaging showed symmetrical signal alteration in tegmentum of brain stem, pallidum and thalamus. Mitochondrial DNA analysis from skeletal muscle showed a deletion in heteroplasmic condition. The association of dystonia to KSS, confirmed by molecular analysis, is first described in this case, and the importance of oxidative phosphorylation defects in the physiopathogenesis of this type of movement disorder is stressed.

Movement disorders and inborn errors of metabolism in adults: A diagnostic approach

“…Leigh syndrome is genetically and biochemically heterogeneous and has been reported in association with complex I, complex IV and complex V defects (Hanna and Bhatia 1997). Dystonia has been also reported in association with the primary LHON mutations G14459A, T14459A, T14596A, and G11778A, with or without blindness (Jun et al 1994;Shoffner et al 1995;De Vries et al 1996;McFarland et al 2007), the MELAS mutation A3243G (Sudarsky et al 1999) and in association with Kearns-Sayre syndrome (Marie et al 1999). A novel C4716G mutation has been described recently in patients with dystonia, bilateral basal ganglia lesions, epilepsy, and ptosis (McFarland et al 2007).…”

Brain Magnetic Resonance Imaging Findings in Patients With Mitochondrial Cytopathies

“…Brainstem MRI abnormalities were identified by several authors in a few cases. 25,26 Kapeller et al 11 reported abnormalities in glossopharyngeal nuclei in a patient with dysphagia, and Chu et al 25 reported brainstem hyperintensity in two patients. On the other hand, CbA was frequently identified in patients with KSS.…”

Síndrome de Kearns-Sayre: Relato de um caso

“…Em revisão feita por Berenberg et al, apud Marie et al, incluindo cinco casos de sua casuística e mais 30 da literatura, BAVT foi a causa de morte em 20% dos pacientes. 9 A grande maioria dos estudos mostrou melhora clínica, e estes são mais recentes quando comparados com estudos que não demonstraram a eficácia da CoQ 10. No caso relatado, ocorreu melhora clínica significativa dos sintomas de fadiga muscular relatados pelo paciente e contribuiu para uma sutil melhora do quadro de oftalmoplegia.…”