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Case Reports
. 2017 Jan 1;9(1):e949.
doi: 10.7759/cureus.949.

Krabbe Disease: Report of a Rare Lipid Storage and Neurodegenerative Disorder

Pratyusha Pavuluri  1 , Sabitha Vadakedath  2 , Rajkumar Gundu  1 , Sushmitha Uppulety  1 , Venkataramana Kandi  3
Affiliations
Case Reports

Krabbe Disease: Report of a Rare Lipid Storage and Neurodegenerative Disorder

Pratyusha Pavuluri et al. Cureus. .

Abstract

Krabbe disease is a rare (one in 100,000 births) autosomal recessive condition, usually noticed among children. It causes sphingolipidosis (dysfunctional metabolism of sphingolipids) and leads to fatal degenerative changes affecting the myelin sheath of the nervous system. We report a case of a six-year-old male child who presented with symptoms of muscle spasticity and irritability. Diagnosis of this disease can only be made with clinical suspicion. Laboratory diagnosis includes brain magnetic resonance imaging (MRI), magnetic resonance (MR) spectroscopy, biochemical analysis of cerebrospinal fluid, and genetic analysis for detecting mutation in genes coding for galactosyl cerebroside (GALC). We report a case of late infantile Krabbe disease.

Keywords: autosomal recessive sphingolipidosis; galactosyl cerebroside; globoid cell leukodystrophy; krabbe disease; progressive neurologic degeneration.

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Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. The pathway depicting consequences of mutation at chromosome 14
See this image and copyright information in PMC

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