Figure 36-2. Krabbe disease. Axial T2-weighted MRI of a 6-month old with difficulty feeding, irritability, upper extremity hypertonia and lower extremity hypotonia, which began at 3 months. Laboratory testing confirmed low levels of leukocyte galactocerebrosidase activity. There is abnormal hyperintensity of the cerebral peduncles (corticospinal tract atrophy) as well as enlargement of the prechiasmatic optic nerves. Thalamic hypointensity, not shown here, is a common finding as well. (Image courtesy of Drs. Edward Yang and Sanjay Prabhu.)
Figure 36-3. Spongy degeneration of infancy (Canavan-van Bogaert-Bertrand disease). Axial T2-weighted MRI of a 5-week old with hypertonia, nystagmus, and macrocephaly. There is abnormal hyperintensity in the globus pallidus, ventrolateral thalamus, and internal capsule. Abnormal white matter hyperintensity extends to the cortex without sparing of the arcuate fibers. MR spectroscopy (not shown) revealed a markedly elevated N-acetyl aspartate peak. (Image courtesy of Drs. Edward Yang and Sanjay Prabhu.)
Figure 36-4. A schematic for diagnosis of the inherited metabolic diseases of infancy. (Courtesy of Dr. Edwin Kolodny.)
Figure 36-5. Metachromatic leukodystrophy. Axial T2-weighted MRI of a 2-year-old girl with developmental regression and EMG evidence of diffuse motor and sensory demyelination. There is abnormal symmetric central white matter hyperintensity with sparing of the subcortical arcuate fibers. (Image courtesy of Drs. Edward Yang and Sanjay Prabhu.)
Figure 36-6. Differential diagnosis of mucopolysaccharidoses from oligosaccharidoses. (Courtesy of Dr. Ed Kolodny.)
Figure 36-7. Kayser-Fleischer corneal ring in Wilson disease. Brown coloration is seen near the limbus of the cornea and represents copper deposition in Descemet’s membrane. (Reproduced from
Mackay D, Miyawaki E: Hyperkinetic Movement Disorders. ACP
Medicine, Online S12C17, Topic ID 1271. © Decker Intellectual Properties. Courtesy of Drs. Edison Miyawaki and Donald Bienfang.)
Figure 36-8. Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz disease). T2-weighted MRI showing areas of decreased signal intensity of the pallidum bilaterally (corresponding to iron deposition) and a central high signal area because of necrosis (“eye-of-the-tiger” sign). (Reproduced with permission from Lyon et al. Courtesy of Dr. C. Gillain.)
Figure 36-9. Idiopathic basal ganglionic and cerebellar calcification discovered in a 54-year-old woman with a slowly progressive rigid Parkinson syndrome.
Figure 36-10. Adrenoleukodystrophy. Axial T2-weighted MRI of an 8-year-old boy with headache. There is abnormal posterior periventricular white matter hyperintensity extending across the splenium of the corpus callosum. Laboratory testing confirmed adrenal insufficiency. (Image courtesy of Drs. Edward Yang and Sanjay Prabhu.)
Chapter  36    Inherited Metabolic Diseases of the Nervous System