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European Journal of Pediatrics

, Volume 154, Issue 1, pp 35–42 | Cite as

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

  • Már H. Tulinius
  • Anders Oldfors
  • Elisabeth Holme
  • Nils-Göran Larsson
  • Massoud Houshmand
  • Per Fahleson
  • Lars Sigström
  • Bengt Kristiansson
Metabolic Diseases Original Paper

Abstract

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

Conclusion

It may be concluded that symptoms from several different organs may be the first manifestation of a mtDNA deletion disorder.

Key words

Mitochondrial DNA Renal tubular disease Hypoparathyroidism Diabetes mellitus Liver disease 

Abbreviations

COX

cytochrome c oxidase

KSS

Kearns-Sayre syndrome

mtDNA

mitochondrial DNA

SDH

Succinate dehydrogenase

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Copyright information

© Springer-Verlag 1995

Authors and Affiliations

  • Már H. Tulinius
    • 1
  • Anders Oldfors
    • 2
  • Elisabeth Holme
    • 3
  • Nils-Göran Larsson
    • 1
    • 3
  • Massoud Houshmand
    • 3
  • Per Fahleson
    • 4
  • Lars Sigström
    • 1
  • Bengt Kristiansson
    • 1
  1. 1.Department of PaediatricsUniversity of Göteborg Östra HospitalGöteborgSweden
  2. 2.Department of PathologyUniversity of Göteborg, Sahlgrenska HospitalGöteborgSweden
  3. 3.Department of Clinical ChemistryUniversity of Göteborg, Sahlgrenska HospitalGöteborgSweden
  4. 4.Department of PaediatricsBoden HospitalBodenSweden

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