Gonzalez Clarissa, Cohen Madelyn J, Hong Juhee, Calame Daniel, Marri Kavitha, Harpavat Sanjiv, Wangler Michael F, Mysore Krupa
School of Medicine, Baylor College of Medicine, Houston, Texas, USA.
Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Texas Children's Hospital, Houston, Texas, USA.
Am J Med Genet A. 2025 Apr;197(4):e63941. doi: 10.1002/ajmg.a.63941. Epub 2024 Dec 5.
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.
过氧化物酶体生物发生障碍-泽尔韦格谱系障碍（PBD-ZSD）是一种由参与过氧化物酶体生物发生的基因突变引起的罕见遗传病。PBD-ZSD的临床表现严重程度各异，其治疗仍以针对特定并发症的支持治疗为主。已有少数关于使用肝移植治疗PBD-ZSD的神经症状或肝功能障碍及肝硬化的报道病例。在本病例报告中，我们记录了一名16岁男孩的病程，他被诊断为PBD-ZSD，并在因肝硬化接受原位肝移植（OLT）后出现了延迟且意外的神经病变。OLT后，患者的γ-谷氨酰转移酶（GGT）、天冬氨酸转氨酶（AST）、丙氨酸转氨酶（ALT）和白蛋白恢复正常；然而，他出现了多发性神经病变，对其病因进行了调查，考虑了诸如炎性神经病变（吉兰-巴雷综合征：GBS/慢性炎性脱髓鞘性多发性神经病变：CIDP）、药物作用或PBD-ZSD的潜在并发症等可能情况。他的神经病变症状有所改善，因此本病例代表了对PBD-ZSD患者OLT后出现的明显延迟且可缓解的亚急性神经病变的一次探索。
