Radiological and electroencephalographic findings in mitochondrial complex III deficiency.

2 A 17 months old girl was in study by psychomotor retardation and phenotypic abnormalities. She pre- sented a severe intrauterine growth retardation and prematurity, respiratory distress, and severe hypocal- cemia. The patient obtained a cephalic support at 10 months and sitting at 13 months. Physical examination demonstrated a macrocephaly with width forehead, triangular face and broad nasal root and axial and mem- bers hypotonia. No other clinical manifestations were observed. Brain MRI revealed an increase of bilateral and symmetrical signal only in the sequence Flair located in the anterior portion of both putamens. The electroencephalogram showed a very disorganized and slowed background activity and persistent spike and multifocal spike-waves paroxysmal. The most relevant laboratory findings were the presence of hyperlac- tataemia with increased lactate / pyruvate ratio and an increase in urine beta-aminoisobutiric acid. Muscle biopsy demonstrated a mitochondrial complex III deficiency.