Language

English

Publication Date

4-1-2025

Journal

American Journal of Medical Genetics Part A

DOI

10.1002/ajmg.a.63941

PMID

39632697

PMCID

PMC11885015

PubMedCentral® Posted Date

4-1-2026

PubMedCentral® Full Text Version

Author MSS

Abstract

Peroxisome biogenesis disorders-Zellweger spectrum disorder (PBD-ZSD) is a rare genetic disease caused by mutations in the genes involved in peroxisome biogenesis. PBD-ZSD presentations vary in severity, and treatment of PBD-ZSD remains supportive focused on specific complications. A few reported cases of the use of liver transplantation to treat either neurological symptoms or liver dysfunction and cirrhosis in PBD-ZSD have been published. In this case report, we document the course of a 16-year-old boy diagnosed with PBD-ZSD and a delayed and unexpected neuropathy that developed after undergoing orthotopic liver transplantation (OLT) for which the indication was liver cirrhosis. Following OLT, the patient's gamma-glutamyl transferase (GGT), aspartate aminotransferase (AST), alanine transaminase (ALT), and albumin normalized; however, he developed a polyneuropathy, the cause of which was investigated with conditions such as inflammatory neuropathies (Guillain Barré syndrome: GBS/chronic inflammatory demyelinating polyneuropathy: CIDP), drug effect, or underlying complication of PBD-ZSD all considered possible. His neuropathic symptoms improved and therefore this case represents an exploration of an apparent delayed and resolving subacute neuropathy in PBD-ZSD after OLT.

Keywords

Humans, Male, Liver Transplantation, Adolescent, Zellweger Syndrome, Polyneuropathies, Peroxisome Biogenesis Disorders, Zellweger Spectrum, liver transplantation, bile acids, very long-chain fatty acids

Published Open-Access

yes

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