Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease)

Ultrastructural Pathology
Mikako WarrenShoji Yano

Abstract

Zellweger spectrum disorders (ZSD) are rare autosomal recessive inherited metabolic disorders and include severe (Zellweger syndrome) and milder phenotypes [neonatal adrenoleukodystrophy and infantile Refsum disease (IRD)]. ZSD are characterized by impaired peroxisomal functions and lack of peroxisomes detected by electron microscopy (EM). ZSD are caused by mutations in any of the 14 PEX genes. Patients with ZSD commonly demonstrate nonspecific hepatic symptoms within the first year, often without clinical suspicion of ZSD. Thus, recognition of pathologic findings in the liver is critical for the early diagnosis. We herein demonstrate the histologic and ultrastructural features in liver biopsies in the early and advanced phases from a 16-year-old male with IRD. The initial biopsy at 5 months of age showed a lack of peroxisomes by EM, and this finding played a critical role in the early diagnosis. In contrast, the second biopsy at 14 years of age, after long-term diet therapy, demonstrated significant disease progression with near-cirrhotic liver. In addition to lack of peroxisomes, EM revealed abundant trilamellar inclusions within large angulated lysosomes in many of the hepatocytes and Kupffer cells. Mitochondrial abnormaliti...Continue Reading

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Citations

Jun 1, 2019·Journal of Inherited Metabolic Disease·Kevin BerendseBwee Tien Poll-The
Mar 27, 2020·Frontiers in Cellular Neuroscience·Ndidi-Ese UzorAndrey S Tsvetkov
Jan 6, 2021·Neurotoxicity Research·Rachayeeta DebShirisha Nagotu
Dec 7, 2018·Case Reports in Gastroenterology·James E Heubi, Warren P Bishop

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