Abstract

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.