Atypical presentation of multisystem disorders in two girls with mitochondrial DNA deletions

摘要: We describe two girls with atypical presentations of multisystem disorders due to deletions in mitochondrial DNA (mtDNA). One presented painful carpopedal spasms hypoparathyroidism at the age 4 years. The disease was rapidly progressive development truncal and limb ataxia, spastic paraparesis, muscle weakness wasting, pigmentary retinal degeneration sensorineural hearing loss. She had short stature vitiligo patches, hirsutism, anaemia, diabetes mellitus exocrine pancreatic dysfunction. other girl 6 years polydipsia, polyuria fatigue renal tubular insidiously poor growth loss, ataxia. Morphological, enzyme histochemical biochemical investigations indicated dysfunction skeletal muscle, liver kidney one patient other. Both patients large proportions mtDNA molecules deletion liver, kidney, blood cells. It may be concluded that symptoms from several different organs first manifestation a disorder.