A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentation

• Published in: Molecular genetics and metabolism Vol. 87; no. 2; pp. 175 - 177
• Main Authors: Schiff, Manuel, Levrat, Virginie, Acquaviva, Cécile, Vianey-Saban, Christine, Rolland, Marie-Odile, Guffon, Nathalie
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01-02-2006
• Subjects: Anaplerosis; Brain - abnormalities; Child; Child, Preschool; Diagnosis, Differential; Gluconeogenesis; Humans; Infant; Infant, Newborn; Lactic acidemia; Magnetic Resonance Imaging; Male; Neuroimaging; Psychomotor Disorders - diagnosis; Psychomotor Disorders - genetics; Psychomotor Disorders - physiopathology; Pyruvate Carboxylase - genetics; Pyruvate carboxylase deficiency; Pyruvate Carboxylase Deficiency Disease - diagnosis; Pyruvate Carboxylase Deficiency Disease - enzymology; Pyruvate Carboxylase Deficiency Disease - genetics; Subcortical Leucodystrophy; Subcortical white matter; Neuroimaging; Pyruvate carboxylase deficiency; Subcortical Leucodystrophy; Subcortical white matter; Lactic acidemia; Anaplerosis; Gluconeogenesis
• ISSN: 1096-7192; 1096-7206
• DOI: 10.1016/j.ymgme.2005.10.007

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.