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An autopsy case report of adult-onset Krabbe disease: Comparison with an infantile-onset case.

Pathology international - 1 Nov 2022

Sasaki Miu, Ebata Miori, Tanei Zen-Ichi, Oda Yoshitaka, Hamauchi Akiko, Tanikawa Satoshi, Sugino Hirokazu, Ishida Yusuke, Abe Takenori, Arai Nobutaka, Sako Kazuya, Tanaka Shinya

Abstract excerpt

Krabbe disease is a lysosomal storage disease caused by a deficiency of the galactocerebrosidase (GALC) enzyme, which leads to demyelination of the central and peripheral nervous systems. Almost all patients with Krabbe disease are infants, and this is the first report of adult-onset cases that describe pathological findings. Here, we present two autopsy cases: a 73-year-old female and a 2-year-old male. The...

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PMID: 36200664
DOI: 10.1111/pin.13275

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