Oral health in two heterozygote female twins with congenital lactic acidosis

  • Marta Mazur
  • Fabrizio Guerra
  • Artnora Ndokaj
  • Antonio Pizzuti
  • Livia Ottolenghi
Keywords: congenital lactic acidosis, twins, hypomineralization, fluorescence camera, caries


Introduction: Congenital lactic acidosis (CLA) is a rare disease caused by mutations in Mithocondrial DNA (mtDNA), which
affects the ability of cells to use energy that causes accumulation of lactic acid in the body. No oral manifestations have been
documented in these patients.
Methods: We report the oral health status of two young adolescent heterozygote female twins, one of them being diagnosed at 8
weeks of life by muscle biopsy with a severe neonatal form of CLA. In order to avoid biopsy-related complications, the second twin
did not undergo a diagnostic procedure and both girls were treated for CLA. They underwent clinical oral health examination at
the age of 12, for caries evaluation (diagnostic threshold D1 - early enamel demineralization) by ICDAS II clinical assessment,
photographic documentation and fluorescence intra-oral camera.
Results: Among the two twins, the CLA-diagnosed one presented with severe enamel carious hypomineralizations on upper and
lower vestibular smooth surfaces. Moreover, deep occlusal enamel carious lesions were detected by intra-oral fluorescence camera.
The second twin had no obvious decay lesions, neither on pit and fissures nor on vestibular smooth surfaces.
Conclusions: Congenital lactic acidosis might be associated with hypomineralized defects and caries susceptibility in young
adolescents. Preventive measures and personalized caries risk assessment should be encouraged and implemented in these patients
following current caries management systems protocols, as ICCMS (International Caries Classification and Management System).