Serial MRI and CT findings in infantile Krabbe disease

• Published in: Pediatric neurology Vol. 8; no. 6; pp. 455 - 458
• Main Authors: Farley, Timothy J., Ketonen, Leena M., Bodensteiner, John B., Wang, David D.
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01.11.1992; Elsevier
• Subjects: Biological and medical sciences; Brain - pathology; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Female; Follow-Up Studies; Humans; Infant; Leukodystrophy, Globoid Cell - diagnosis; Magnetic Resonance Imaging; Medical sciences; Neurologic Examination; Neurology; Tomography, X-Ray Computed; Human; Case study; Nervous system diseases; Radiodiagnosis; Krabbe disease; Exploration; Infant; Degenerative disease; Computerized axial tomography; Nuclear magnetic resonance imaging; Brain (vertebrata); Genetic disease
• ISSN: 0887-8994; 1873-5150
• DOI: 10.1016/0887-8994(92)90009-N

Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive childhood disorder characterized by severe motor and mental deterioration. The disease has been divided into 3 main types and further subdivided into several subtypes based on age of onset and symptoms. Initial clinical findings and magnetic resonance imaging (MRI) with several follow-up scans are presented to identify the order and extent of white matter involvement and developing brain atrophy in a child with the floppy infant variant of Krabbe disease. When the patient's clinical condition proceeded to stage 2, MRI disclosed severe involvement of the deep white matter around the atria and posterior limbs of the internal capsules. At the same time there was progression of normal myelination around the frontal horns. At age 32 months, the patient's clinical condition proceeded to stage 3; she did not interact with her environment. MRI revealed a significant decrease of white matter volume, generalized atrophy, and abnormal high signal in all white matter areas except the anterior limbs of the internal capsules. At the same time the volume of the central gray nuclei was decreased and also demonstrated abnormal high signal. Despite its sensitivity, MRI could not differentiate the findings of this variant of Krabbe disease from the classic form; therefore, subclassifications of Krabbe disease should be made on clinical grounds because they cannot be distinguished by biochemical or radiologic (MRI) criteria.