Krabbe’s disease; A rare case report

Jaiswani, Arun Kumar; Kulkarni, Vishal; Paliwal, Ankit

doi:10.1016/j.legalmed.2022.102155

Cited by 2 publications

(1 citation statement)

References 7 publications

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“…40 Therefore, magnetic resonance (MR) images showing abnormal signals, as well as the presence of globoid cells must be done before final diagnosis of the disease. 41 For instance, MR imaging diagnosed A 32-year-old woman with headache as adult onset KB with two pathogenic variants in GALC. 42 There was a high increase in psychosine levels in infants diagnosed with KD.…”

Section: Clinical Observationsmentioning

confidence: 99%

Globoid Cell Leukodystrophy (Krabbe Disease): An Update

Maghazachi

2023

ITT

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Globoid cell leukodystrophy or Krabbe is a disease that affects children as well as adults who have mutations in the gene encoding the enzyme galactosylceramidase/galctocerebrosidase (GALC), resulting in the deposition of the toxic lipid D-galactosyl-beta1-1’ sphingosine (GalSph or psychosine). Several therapeutic modalities were used to treat patients with Krabbe disease, including hematopoietic stem cell transplantation, enzyme replacement therapy, autophagy activators, intravenous immunoglobulin, and inhibitors of the Pyroptosis process, among many other approaches. In this article, I will briefly discuss the disease in both human and animal model, describe recent clinical observations as well as methods utilizing genetic analysis for diagnosis, and finally review recent advances in treating this rare and devastating disease.

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Section: Clinical Observationsmentioning

confidence: 99%

Globoid Cell Leukodystrophy (Krabbe Disease): An Update

Maghazachi

2023

ITT

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From pathological mechanisms in Krabbe disease to cutting‐edge therapy: A comprehensive review

Ketata,

Ellouz

2024

Neuropathology

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Since its initial documentation by Knud Krabbe in 1916, numerous studies have scrutinized the characteristics of Krabbe disease (KD) until the identification of the mutation in the GALC gene. In alignment with that, we investigated the natural history of KD spanning eight decades to gain a deeper understanding of the evolutionary trajectory of its mechanisms. Through our comprehensive analysis, we unearthed additional novel elements in molecular biology involving the micropathological mechanism of the disease. This review offers an updated perspective on the metabolic disorder that defines KD. Recently, extracellular vesicles (EVs), autophagy impairment, and α‐synuclein have emerged as pivotal players in the neuropathological processes. EVs might serve as a cellular mechanism to avoid or alleviate the detrimental impacts of excessive toxic psychosine levels, and extracting EVs could contribute to synapse dysfunction. Autophagy impairment was found to be independent of psychosine and reliant on AKT and B‐cell lymphoma 2. Additionally, α‐synuclein has been recognized for inducing cellular death and dysfunction in common biological pathways. Our objective is to assess the effectiveness of advanced therapies in addressing this particular condition. While hematopoietic stem cells have been a primary treatment, its administration proves challenging, particularly in the presymptomatic phase. In this review, we have compiled information from over 10 therapy trials, comparing them based on their benefits and disadvantage.

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Krabbe’s disease; A rare case report

Cited by 2 publications

References 7 publications

Globoid Cell Leukodystrophy (Krabbe Disease): An Update

Globoid Cell Leukodystrophy (Krabbe Disease): An Update

From pathological mechanisms in Krabbe disease to cutting‐edge therapy: A comprehensive review

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