OBJECTS: We hoped to itemize the clinical and neuroradiological features of six neonates with mitochondrial disorders. METHODS: We examined a case series of six neonates. The diagnosis of mitochondrial cytopathy was made on the basis of spectrophotometric measurements of respiratory chain enzyme activities in skeletal muscle biopsy specimens. Magnetic resonance (MR) imaging was performed in all cases. CONCLUSIONS: The antenatal onset in five cases and the lack of any symptom-free interval are suggestive of fetal expression of the disease. No specific symptoms were found: arthrogryposis congenita multiplex in one, progressive hepatocellular dysfunction in three, encephalomyelopathy and cardiomyopathy in four. Complex I deficiency was found in three patients, while one patients had a defect of complex IV and the last a combined defect of complexes I and IV. Neuroradiological findings were either cerebral atrophy or white matter abnormalities of the brain stem in all cases but one and gave additional information, because clinical symptoms are not quite specific. The combination of clinical and MRI findings in neonatal cases can rule out hypoxic ischemic encephalopathy, which suggests an additional screening method to look for mitochondrial disorder.
OBJECTS: We hoped to itemize the clinical and neuroradiological features of six neonates with mitochondrial disorders. METHODS: We examined a case series of six neonates. The diagnosis of mitochondrial cytopathy was made on the basis of spectrophotometric measurements of respiratory chain enzyme activities in skeletal muscle biopsy specimens. Magnetic resonance (MR) imaging was performed in all cases. CONCLUSIONS: The antenatal onset in five cases and the lack of any symptom-free interval are suggestive of fetal expression of the disease. No specific symptoms were found: arthrogryposis congenita multiplex in one, progressive hepatocellular dysfunction in three, encephalomyelopathy and cardiomyopathy in four. Complex I deficiency was found in three patients, while one patients had a defect of complex IV and the last a combined defect of complexes I and IV. Neuroradiological findings were either cerebral atrophy or white matter abnormalities of the brain stem in all cases but one and gave additional information, because clinical symptoms are not quite specific. The combination of clinical and MRI findings in neonatal cases can rule out hypoxic ischemicencephalopathy, which suggests an additional screening method to look for mitochondrial disorder.
Authors: Maarten H Lequin; Jeroen R Vermeulen; Ruurd M van Elburg; Frederik Barkhof; René F Kornelisse; Renate Swarte; Paul P Govaert Journal: AJNR Am J Neuroradiol Date: 2005-09 Impact factor: 3.825
Authors: Andrea Poretti; Susan I Blaser; Maarten H Lequin; Ali Fatemi; Avner Meoded; Frances J Northington; Eugen Boltshauser; Thierry A G M Huisman Journal: J Magn Reson Imaging Date: 2012-05-07 Impact factor: 4.813
Authors: Gregory M Enns; Vandana Shashi; Matthew Bainbridge; Michael J Gambello; Farah R Zahir; Thomas Bast; Rebecca Crimian; Kelly Schoch; Julia Platt; Rachel Cox; Jonathan A Bernstein; Mena Scavina; Rhonda S Walter; Audrey Bibb; Melanie Jones; Madhuri Hegde; Brett H Graham; Anna C Need; Angelica Oviedo; Christian P Schaaf; Sean Boyle; Atul J Butte; Rui Chen; Rong Chen; Michael J Clark; Rajini Haraksingh; Tina M Cowan; Ping He; Sylvie Langlois; Huda Y Zoghbi; Michael Snyder; Richard A Gibbs; Hudson H Freeze; David B Goldstein Journal: Genet Med Date: 2014-03-20 Impact factor: 8.822