Abstract
Krabbe disease (globoid cell leukodystrophy) is an inherited recessive autosomal leukodystrophy caused by deficiency of the enzyme galactocerebrosidase. The lack of this enzyme leads to the build-up of galactolipids that will promote the death of oligodendrocytes and the demyelination of the central and peripheral nervous systems. There are two clinical forms: early onset and late onset. This article reports a case of late onset Krabbe disease and discusses the importance of early diagnosis for its prognosis.
Highlights
Krabbe disease (DK) is a lysosome deposit disease caused by the deficiency of the enzyme galactocerebrosidase (GALC)
Galactocerebrosides are hydrolyzed by GM1-gangliosidase and do not degrade psychosine; there is a greater accumulation of this substance
DK is rare, with an incidence of 1/100,000 liveborns[4]. It presents as a hereditary recessive autosomal disorder, with a deficiency of GALC due to the mutation of the GALC gene located in chromosome 14q31 – there are more than 60 known mutations in this gene[5]
Summary
Krabbe disease (DK) is a lysosome deposit disease caused by the deficiency of the enzyme galactocerebrosidase (GALC) It was first described in 1916, when Krabbe reported an uncommon form of familial diffuse brain sclerosis[1]. In the late onset form there are alterations in gait, motor development delay, stiffness, loss of vision, dysphagia, and seizures[4]. The patient was referred to the hematopoietic cell transplant group (HCT) of the Pediatric Hematology Team, and received a transplant from a related donor. She evolved with no disease progression to date, with a significant improvement of dysphagia and visual acuity
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
