title: A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentation.
abstract: 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.
authors.affiliation: Département de Pédiatrie, Pavillon S, Hôpital Edouard Herriot, Place d'Arsonval, 69437 Lyon Cedex 03, France. manuel.schiff@chu-lyon.fr
authors.forename: Manuel
authors.initials: M
authors.lastname: Schiff
authors.forename: Virginie
authors.initials: V
authors.lastname: Levrat
authors.forename: Cécile
authors.initials: C
authors.lastname: Acquaviva
authors.forename: Christine
authors.initials: C
authors.lastname: Vianey-Saban
authors.forename: Marie-Odile
authors.initials: MO
authors.lastname: Rolland
authors.forename: Nathalie
authors.initials: N
authors.lastname: Guffon
mesh_terms: 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*
chemical_list: D011766:Pyruvate Carboxylase