Krabbe Disease: Report of a Rare Lipid Storage and Neurodegenerative Disorder.
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.
Biochemistry, Chalmeda Anandrao Institute of Medical Sciences.
Pratyusha
P
Pavuluri
Biochemistry, Chalmeda Anand Rao Institute of Medical Sciences.
Sabitha
S
Vadakedath
Biochemistry, Chalmeda Anandrao Institute of Medical Sciences.
Rajkumar
R
Gundu
Biochemistry, Chalmeda Anandrao Institute of Medical Sciences.
Sushmitha
S
Uppulety
Department of Microbiology, Prathima Institute of Medical Sciences.
Venkataramana
V
Kandi
autosomal recessive sphingolipidosis; galactosyl cerebroside; globoid cell leukodystrophy; krabbe disease; progressive neurologic degeneration