Incidental magnetic resonance imaging findings leading to an unusual diagnosis: Adult onset Krabbe disease

• Published in: European journal of neurology Vol. 29; no. 6; pp. 1859 - 1862
• Main Authors: Paiva, Anderson Rodrigues Brandão, Fonseca Neto, Ronald Edington, Afonso, Clara Lima, Freua, Fernando, Nóbrega, Paulo Ribeiro, Kok, Fernando
• Format: Journal Article
• Language: English
• Published: England John Wiley & Sons, Inc 01-06-2022
• Subjects: Adult; Age of Onset; Diagnosis; Female; Galactosylceramidase - genetics; Heredity; Humans; Krabbe disease; leukodystrophies; Leukodystrophy; Leukodystrophy, Globoid Cell - diagnostic imaging; Leukodystrophy, Globoid Cell - genetics; Lysosomal storage diseases; Magnetic Resonance Imaging; Medical imaging; Mutation; Neuroimaging; Resonance; leukodystrophies; Krabbe disease
• ISSN: 1351-5101; 1468-1331
• DOI: 10.1111/ene.15298

Background and purpose
Krabbe disease (KD), or globoid cell leukodystrophy (Online Mendelian Inheritance in Man #245200), is an autosomal recessive lysosomal storage disease caused by mutations in GALC leading to galactocerebrosidase deficiency. Age at onset can vary from early infancy (3–6 months of age) to adulthood, which has rarely been reported. Little is known about the natural history and early manifestations of adult onset KD (AOKD).
Methods
Here, we report a patient with an incidental diagnosis of AOKD and discuss management options in this scenario.
Results
A 32‐year‐old woman came to medical attention because of headache and had brain magnetic resonance imaging findings compatible with AOKD, two pathogenic variants in GALC, and reduced activity of galactocerebrosidase. The jury is still out about the best management of such cases, and clinicians should be aware of this diagnosis, as AOKD is a potentially treatable condition.
Conclusions
AOKD is a rare and potentially treatable condition. More studies on natural history of AOKD are urgently needed to guide the best management of this disease.
Adult‐onset Krabbe disease is a very rare entity. Brain MRI findings can antedate the clinical presentation and early recognition of this condition is paramount as it is a potentially treatable disease.