Prolonged Survival and Serial Magnetic Resonance Imaging/Magnetic Resonance Spectroscopy Changes in Infantile Krabbe Disease

Abstract Krabbe disease may present during infancy, late infancy, or adulthood. Earlier-onset disease is associated with shorter survival times. We present a case of infantile onset Krabbe disease with prolonged survival, initial intracranial optic nerves and optic chiasm hypertrophy, and serial cha...

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Veröffentlicht in:	Pediatric neurology 2012-10, Vol.47 (4), p.299-302
Hauptverfasser:	Udow, Sean, MD, Bunge, Martin, MD, Ryner, Lawrence, PhD, Mhanni, Aizeddin A., MBChB, PhD, Salman, Michael S., MBBS, PhD
Format:	Artikel
Sprache:	eng
Schlagworte:	Anticonvulsants - therapeutic use Aspartic Acid - analogs & derivatives Aspartic Acid - analysis Biological and medical sciences Brain Chemistry Choline - analysis Combined Modality Therapy Creatine - analysis Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA Mutational Analysis Enteral Nutrition Epilepsy - drug therapy Epilepsy - etiology Galactosylceramidase - genetics Humans Hypertrophy Indexing in process Infant Inositol - analysis Leukocytes - enzymology Leukodystrophy, Globoid Cell - pathology Leukodystrophy, Globoid Cell - therapy Magnetic Resonance Imaging - methods Magnetic Resonance Spectroscopy Male Medical sciences Neurology Optic Chiasm - pathology Optic Nerve - pathology Oxygen Inhalation Therapy Pediatrics Physical Therapy Modalities Survivors
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Zusammenfassung:	Abstract Krabbe disease may present during infancy, late infancy, or adulthood. Earlier-onset disease is associated with shorter survival times. We present a case of infantile onset Krabbe disease with prolonged survival, initial intracranial optic nerves and optic chiasm hypertrophy, and serial changes on cranial magnetic resonance imaging and magnetic resonance spectroscopy.
ISSN:	0887-8994 1873-5150
DOI:	10.1016/j.pediatrneurol.2012.06.015