Neuropediatrics 2006; 37 - TP15
DOI: 10.1055/s-2006-945608

FETAL BRAIN MRI FINDINGS IN TWO CASES OF PYRUVATE DEHYDROGENASE DEFICIENCY

E Tsekoura 1, C Panousopoulou 1, H Michelakakis 1, K Schoulpis 1, K Skiadas 1, GK Brown 1, M Anagnostakou 1
  • 1B' Nicu, Department Enzymology and Cellular Function-Institute of Child Health, 'Agia Sofia' Children's Hospital, Athens, Greece; Genetics Unit, Department of Biochemistry, University of Oxford, England

Background: Pyruvate Dehydrogenase Deficiency (PDHD) is one of the most common neurodegenerative inborn errors of metabolism. Symptoms start usually in infancy or in later childhood, but it may be present at birth. We present the fetal MRI findings in two cases diagnosed soon after birth.

Case 1: Female infant born at 37 weeks GA presented at birth with metabolic lactic acidosis, generalized seizures and dysmorphic features. Laboratory tests revealed increased levels of serum and CSF lactate, serum pyruvate, and serum ammonia. Diagnosis of PDHD was confirmed by low PDH activity in fibroblasts (0.1 nmol/mg protein/min, normal range 0.7–1.1) and sequencing of the E1 alpha gene mutation (base substitution G>A in exon 9). Fetal brain ultrasound and MRI at 25 weeks GA had revealed ventricular dilatation, corpus calossum dysgenesis, and intraventricular diaphragms with cystic formations.

Case 2: Female infant born at 37 weeks GA presented at birth with generalized hypotonia. Investigations for inborn errors of metabolism revealed low PDH activity in cultured fibroblasts (0.44 nmol/mg/protein/min) results compatible with an E1 alpha subunit gene mutation in a heterozygous female with 50% of cells expressing the mutant X chromosome. This was confirmed with monoclonal antibodies to E1 alpha and E2 subunits. Fetal brain MRI at 32 weeks GA revealed mild ventricular dilation and asymmetry, dilated third ventricle and intraventricular diaphragms with an isolated cystic formation in the frontal horns.

Conclusion: Both cases presented antenatally with abnormal fetal brain MRI findings. Fetal brain MRI could bring new insights in the early diagnosis of PDHD disorders.