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

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

Content Provider	Europe PMC
Author	Pavuluri, Pratyusha Vadakedath, Sabitha Gundu, Rajkumar Uppulety, Sushmitha Kandi, Venkataramana
Editor	Muacevic, Alexander Adler, John R
Copyright Year	2017
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.
Journal	Cureus
Volume Number	9
DOI	10.7759/cureus.949
PubMed Central reference number	PMC5289898
Issue Number	1
PubMed reference number	28168127
e-ISSN	21688184
Language	English
Publisher	Cureus
Publisher Date	2017-01-01
Publisher Place	Palo Alto (CA)
Access Restriction	Open
Subject Keyword	krabbe disease autosomal recessive sphingolipidosis progressive neurologic degeneration galactosyl cerebroside globoid cell leukodystrophy
Content Type	Text
Resource Type	Case study
Subject	Medicine

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