Improved neurologic prognosis for a patient with propionic acidemia who received early living donor liver transplantation.

Abstract

Despite medical therapy, patients with propionic academia (PA) still display a tendency to develop epilepsy. Patients with neonatal-onset PA who have received early living donor liver transplantation (LDLT) are limited in number, and the effect on neurologic prognosis, including epilepsy, is not clear. We report a patient with PA whose EEG findings improved dramatically after undergoing LDLT at age 7 months. The patient's neurologic development and brain MRI findings were quite satisfactory at age 2 years and 3 months. LDLT is effective not only in preventing metabolic decompensation, but also in improving neurologic function to ensure better quality of life.

• Authors: Masayoshi Nagao, Toju Tanaka, Mayuko Morii, Shuji Wakai, Reiko Horikawa, Mureo Kasahara
• Journal: Molecular genetics and metabolism (Mol Genet Metab) Vol. 108 Issue 1 Pg. 25-9 (Jan 2013) ISSN: 1096-7206 [Electronic] United States
• PMID: 23151386 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2012 Elsevier Inc. All rights reserved.

Topics

• Epilepsy
• Female
• Humans
• Infant
• Infant, Newborn
• Liver Transplantation
• Living Donors
• Magnetic Resonance Imaging
• Prognosis
• Propionic Acidemia (physiopathology, surgery)