Neuropediatrics 2013; 44 - PS14_1102
DOI: 10.1055/s-0033-1337788

Complex I and IV deficiency in an athletic adolescent with mild global retardation, exertional dyspnea, hypertrophic cardiomyopathy, and slight dysdiadochokinesia

BM Bubl 1, EM Böhringer 2, JF Schneider 1, JA Mayr 3, AN Datta 1
  • 1Universitätskinderspital beider Basel, Basel, Switzerland
  • 2Schön Klinik Vogtareuth, Universitätskinderspital beider Basel, Vogtareuth, Germany
  • 3Salzburger Landeskliniken (SALK), Salzburg, Austria

Background: Mitochondriopathies are a group of disorders that affect the mitochondrial enzymes necessary for the energy generation of the cell. The phenotype can vary significantly, depending on the distribution in different organs and remaining activity. In general, high-energy consuming organs like the brain and muscles are most affected.

Case: We present a 15-year-old male, sent to our department from the reception camp for asylum seekers due to psychomotor retardation. At first sight, the history suggested a severe perinatal asphyxia (difficult breech delivery, 3 days of mechanical ventilation, several months of tube feeding, independent eating at 3, walking unassisted at 8, first words at 10 years). A few months ago, he started to complain about exertional dyspnea. Due to the rural environment, no further analysis, schooling or therapies other than physiotherapy were possible.

The physical examination showed a slight muscular hypotonia and, aside from a mild dysdiadochokinesia, no signs of ataxia. Despite a lack of physical training, the muscles were well-defined. Speech comprehension and production were limited. Neuropsychological testing revealed a mild mental retardation.

The patient has 4 healthy siblings: 3 siblings died in infancy of unknown reasons. The parents are consanguineous (first degree cousins).

Results: Due to exertional dyspnea, pneumologic and cardiologic examinations were performed, which showed normal results aside from a mild hypertrophic cardiomyopathy. A cerebral MR scan showed multiple, multifocal cortical infarctions. Lactic acidosis and high alanine levels were found in the blood, indicative for a mitochondriopathy. In the muscle biopsy, a complex I and IV deficiency in the respiratory chain was found. Genetic tests are ongoing.

Conclusion: Despite few clinical signs in a fairly athletic young man, a complex I and IV deficiency could be found as a cause for hypertrophic cardiomyopathy and global retardation.