
pmid: 10881274
Krabbe’s disease or globoid-cell leukodystrophy is an autosomal recessive disorder caused by a mutation of the galactocerebroside beta-galactosidase gene located at chromosome 14q31.1 The reduction of enzymatic activity affects the catabolism of galactosylceramide to ceramide and galactose.1 This disorder is characterized by an abnormal breakdown and turnover of central and peripheral myelin. Neuroradiologic features have been described repeatedly and can be quite characteristic.2 We present a case of infantile Krabbe’s disease with typical MRI findings in association with unexpected abnormalities after contrast administration. A 6-month-old girl was seen for intermittent episodes of unexplained fever, irritability, and psychomotor regression over the previous 2 months. Her prenatal, birth, and medical histories were unremarkable. She was the only child of nonconsanguineous parents with no relevant family history. On examination, she was awake but irritable. She had poor visual fixation and tracking, but complete spontaneous extraocular movements. Mild optic atrophy and hyperactive gag reflex were noted. Her lower extremities …
Cranial Nerves, Humans, Infant, Female, Gadolinium, Image Enhancement, Magnetic Resonance Imaging, Cranial Nerve Diseases, Galactosylceramidase, Leukodystrophy, Globoid Cell
Cranial Nerves, Humans, Infant, Female, Gadolinium, Image Enhancement, Magnetic Resonance Imaging, Cranial Nerve Diseases, Galactosylceramidase, Leukodystrophy, Globoid Cell
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