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

Autor:	Pavuluri P; Biochemistry, Chalmeda Anandrao Institute of Medical Sciences., Vadakedath S; Biochemistry, Chalmeda Anand Rao Institute of Medical Sciences., Gundu R; Biochemistry, Chalmeda Anandrao Institute of Medical Sciences., Uppulety S; Biochemistry, Chalmeda Anandrao Institute of Medical Sciences., Kandi V; Department of Microbiology, Prathima Institute of Medical Sciences.
Jazyk:	angličtina
Zdroj:	Cureus [Cureus] 2017 Jan 01; Vol. 9 (1), pp. e949. Date of Electronic Publication: 2017 Jan 01.
DOI:	10.7759/cureus.949
Abstrakt:	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. Competing Interests: The authors have declared that no competing interests exist.
Databáze:	MEDLINE
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