ATYPICAL PRESENTATION OF MULTISYSTEM DISORDERS IN 2 GIRLS WITH MITOCHONDRIAL-DNA DELETIONS

We describe two girls with atypical presentations of multisystem disor ders due to deletions in mitochondrial DNA (mtDNA). One presented with painful carpopedal spasms due to hypoparathyroidism at the age of 4 y ears. The disease was rapidly progressive with development of truncal and limb ataxia, spastic paraparesis, muscle weakness and wasting, pig mentary retinal degeneration and sensorineural hearing loss. She had s hort stature and vitiligo patches, hirsutism, anaemia, diabetes mellit us and exocrine pancreatic dysfunction. The other girl presented at th e age of 6 years with polydipsia, polyuria and fatigue due to renal tu bular dysfunction. The disease was insidiously progressive with poor g rowth and development of sensorineural hearing loss, muscle weakness a nd truncal and limb ataxia. Morphological, enzyme histochemical and bi ochemical investigations indicated mitochondrial dysfunction of skelet al muscle, liver and kidney in one patient and of skeletal muscle and liver in the other. Both patients had large proportions of mtDNA molec ules with deletion in liver, kidney, skeletal muscle and blood cells. Conclusion It may be concluded that symptoms from several different or gans may be the first manifestation of a mtDNA deletion disorder