Case reportSerial MRI and neurophysiological studies in late-infantile Krabbe disease
References (16)
- et al.
MRI and CT findings in Krabbe disease
Pediatr Neurol
(1991) - et al.
Serial MRI and CT findings in infantile Krabbe disease
Pediatr Neurol
(1992) - et al.
Auditory evoked responses in Krabbe disease
Pediatr Neurol
(1993) - et al.
Galactosylceramide lipidosis: Globoid cell leukodystrophy (Krabbe disease)
- et al.
Late-onset globoid cell leukodystrophy (Krabbe's disease). Clinical and genetic delineation of two forms and their relation to the early infantile form
Neuropediatrics
(1985) Enzymatic diagnosis of sphingolipidoses
Methods Enzymol
(1978)- et al.
Symptomatology of late onset Krabbe's leukodystrophy: The European experience
Dev Neurosci
(1991) - et al.
Specific CT findings in Krabbe disease
AJR
(1984)
Cited by (23)
Imaging Manifestations of the Leukodystrophies, Inherited Disorders of White Matter
2014, Radiologic Clinics of North AmericaCitation Excerpt :Additional distinctive features include enhancement and thickening of cauda equina nerve roots and the cranial nerves, particularly the optic nerves.229–233 Typical features of infantile Krabbe are shown in Fig. 21 and as with most leukodystrophies there is progression to atrophy with time.224,227,234 Later presentation forms of Krabbe manifest as signal abnormality confined to the posterior periventricular white matter and corticospinal tracts, resembling MLD or adrenomyeloneuropathy.227,235
Patterns of magnetic resonance imaging abnormalities in symptomatic patients with Krabbe disease correspond to phenotype
2014, Pediatric NeurologyCitation Excerpt :Although numbers are limited, these data suggest that those children with early involvement of the dentate and cerebellum white matter act more like children with the early infantile phenotype, whereas those with no or later involvement of the same area act more like children with the later onset phenotype. The literature on the late infantile phenotype (onset 7-12 months) is limited but supports our findings that involvement of the dentate nucleus and cerebellar white matter is variable and may occur either early or later in the course16,17 as opposed to those with typical early infantile Krabbe disease, in which changes in the hilum of the dentate and cerebellar white matter typically occur at an early stage of the illness. In contrast to patients with early infantile Krabbe disease, patients whose onset of symptoms is 13 months to 10 years (later onset Krabbe disease) have a distinctly different pattern on MRI.
Chapter 38 Neurophysiologic studies in Krabbe disease
2006, Supplements to Clinical NeurophysiologyOther inherited neuropathies
2006, Handbook of Clinical NeurophysiologyBrain-stem auditory and visual evoked potentials in children with Krabbe disease
2004, Clinical NeurophysiologyCurrent therapeutic strategies for patients with polyneuropathies secondary to inherited metabolic disorders
2003, Mayo Clinic ProceedingsCitation Excerpt :The CSF protein level is markedly elevated in patients with early-onset GLD. Brain computed tomography and MRI show extensive demyelination; proton magnetic resonance spectroscopy reveals evidence of demyelination, gliosis, and loss of axons in the involved white matter.4–6 Typically, NCS reveal a generalized, uniformly demyelinating polyneuropathy, regardless of age or clinical symptoms.2,7