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DOI 10.1002/ajmg.a.63941

Медицинская библиотека · American journal of medical genetics. Part A · 2024

Subacute Neuropathy Post-Liver Transplantation in Zellweger Spectrum Disorder: A Case Report.

Gonzalez Clarissa, Cohen Madelyn J, Hong Juhee, Calame Daniel, Marri Kavitha, Harpavat Sanjiv, Wangler Michael F, Mysore Krupa

Клинический случайСтатьяПоддержка NIH: внешняя программаПеревод в очереди

Аннотация

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.

Для цитирования: Gonzalez Clarissa, Cohen Madelyn J, Hong Juhee, Calame Daniel, Marri Kavitha, Harpavat Sanjiv, Wangler Michael F, Mysore Krupa. Subacute Neuropathy Post-Liver Transplantation in Zellweger Spectrum Disorder: A Case Report.. American journal of medical genetics. Part A. 2024. DOI: 10.1002/ajmg.a.63941.

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