open access

https://hdl.handle.net/2115/90681

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

英語

Krabbe disease

2022-11

John Wiley & Sons

Pathology international

72(11)

558-565

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 adult-onset case developed symptoms in her late thirties and was diagnosed by the identification of GALC D528N and L634S mutations and by T2-weighted magnetic resonance imaging; she had increased signal in the white matter along the pyramidal tract to the bilateral precentral gyrus, as well as from the triangular part to the posterior horn of the lateral ventricle. Microscopically, Kluver-Barrera staining was pale in the white matter of the precentral gyrus and occipito-thalamic radiation, and a few globoid cells were observed. The GALC mutations that were identified in the present adult-onset case do not completely inactivate GALC enzyme activity, resulting in focal demyelination of the brain.

学術雑誌論文

Accepted Manuscript

This is the peer reviewed version of the following article: Sasaki, M, Ebata, M, Tanei, Z-i, Oda, Y, Hamauchi, A, Tanikawa, S, et al. An autopsy case report of adult-onset Krabbe disease: comparison with an infantile-onset case. Pathol. Int. 2022; 72: 558– 565. which has been published in final form at https://doi.org/10.1111/pin.13275. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. This article may not be enhanced, enriched or otherwise transformed into a derivative work, without express permission from Wiley or by statutory rights under applicable legislation. Copyright notices must not be removed, obscured or modified. The article must be linked to Wiley’s version of record on Wiley Online Library and any embedding, framing or otherwise making available the article or pages thereof by third parties from platforms, services and websites other than Wiley Online Library must be prohibited.

1320-5463