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Multiple cranial nerve enhancement in early infantile Krabbe’s disease

Authors: Oscar G. Bernal; Nicholas J. Lenn;

Multiple cranial nerve enhancement in early infantile Krabbe’s disease

Abstract

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 …

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Keywords

Cranial Nerves, Humans, Infant, Female, Gadolinium, Image Enhancement, Magnetic Resonance Imaging, Cranial Nerve Diseases, Galactosylceramidase, Leukodystrophy, Globoid Cell

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    26
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    influence
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Powered by OpenAIRE graph
Found an issue? Give us feedback
citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
26
Average
Top 10%
Average
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