Thea #

A female child with a proven genetic neurodegenerative disease – pyruvate dehydrogenase deficiency (identified homozygous for mutation p.R446* (c.1291C>T).  She was born from the 15 th pregnancy, 12 th birth. . On the second day after birth, transferred to the intensive care unit due to hyperexcitability, hypertonus of the limbs, with convulsive equivalents. With evidence of respiratory distress syndrome and metabolic acidosis. Held oxygen therapy for 5 days. A delay in the NPR was found, mainly in the motor development, with axial hypotonia and hypertonia of the limbs, combined with lactatemia. Submitted material for genetic testing and metabolic screening.Abdominal ultrasound: Pyelectasis (mild) of the left kidney. with microcephaly, developmental delay, tonus changes, elevated lactate and proven pyruvate dehydrogenase deficiency (identified homozygous for mutation p.R446* (c.1291C>T). At the age of 1, a severe retardation in the NPR with quadripyramidal syndrome and microcephaly was formed. Currently, the child has no apparent epileptic seizures, and the EEG shows no epileptiform changes. Remedial nutrition with KetoCal is recommended; reduction of carbohydrate intake. A new hospitalization is forthcoming to start a ketogenic diet with KetoCal.