A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentation.
Pyruvate carboxylase (PC) is a key enzyme for gluconeogenesis and anaplerotic pathways in brain. PC deficiency is a rare autosomal recessive neurometabolic disorder with three described characteristic presentations. We report a patient with atypical clinical and neuroradiological aspects. He survived from neonatal lactic acidemia and is alive at 9 years of age with a mild developmental delay. A brain MRI performed by the age of 18 months disclosed an unusual subcortical leucodystrophic process.
Schiff
Manuel
M
Département de Pédiatrie, Pavillon S, Hôpital Edouard Herriot, Place d'Arsonval, 69437 Lyon Cedex 03, France. manuel.schiff@chu-lyon.fr
Levrat
Virginie
V
Acquaviva
Cécile
C
Vianey-Saban
Christine
C
Rolland
Marie-Odile
MO
Guffon
Nathalie
N
D001921:Brain / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D011596:Psychomotor Disorders / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D011766:Pyruvate Carboxylase / Q000235:genetics*; D015324:Pyruvate Carboxylase Deficiency Disease / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics*
D011766:Pyruvate Carboxylase