AN ATYPICAL FRENCH FORM OF PYRUVATE-CARBOXYLASE DEFICIENCY

PINEDA M CAMPISTOL J VILASECA MA BRIONES P RIBES A TEMUDO T PONS M CUSI V ROLLAND MO

M. Pineda et al., AN ATYPICAL FRENCH FORM OF PYRUVATE-CARBOXYLASE DEFICIENCY, Brain & development, 17(4), 1995, pp. 276-279

13

INGLESE

Note

Neurosciences

Brain & development → ACNP

0387-7604

17

4

1995

276 - 279

ISI

0387-7604(1995)17:4<276:AAFFOP>2.0.ZU;2-Z

A further case of pyruvate carboxylase deficiency, French type, with a particular clinical presentation and evolution is described, The init ial neonatal symptoms started with respiratory distress, severe metabo lic acidosis and a tendency to hypoglycemia, However, the clinical cou rse was not rapidly deteriorating, At the age of 6 months he presented acute neurological symptoms, respiratory difficulty, lactic acidosis and hyperammonemia, Amino and organic acid abnormalities strongly sugg ested pyruvate carboxylase deficiency, which was confirmed by enzymati c studies in cultured fibroblasts and liver necropsy, Progressive dete rioration and bronchopneumonia with cardiac failure and renal insuffic iency led to death, Anatomic-pathologic studies revealed periventricul ar cysts and diffuse hypomyelination. Prenatal diagnosis of a further sibling was performed, The neonatal clinical presentation, biochemical abnormalities, and the presence of periventricular cysts suggested a French phenotype, However, the clinical course was less severe, sugges ting a residual enzymatic activity and a possible milder mutation.