Magnetic resonance of metabolic and degenerative diseases in children

Topics in Magnetic Resonance Imaging

Volumn 13, Issue 1, 2002, Pages 3-22

  Faerber, Eric N ^a   Poussaint, Tina Young ^b  

^a ST CHRISTOPHER'S HOSPITAL FOR CHILDREN   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Children; Degenerative disorder; Magnetic resonance imaging; Metabolic disorder

Indexed keywords

ADRENOLEUKODYSTROPHY; ALEXANDER DISEASE; ALPER DISEASE; ARTICLE; CANAVAN DISEASE; CELL FUNCTION; CELL STRUCTURE; CEPHALOMETRY; CHILD; CHILDHOOD DISEASE; CLINICAL FEATURE; COCKAYNE SYNDROME; DEGENERATIVE DISEASE; DIAGNOSTIC VALUE; DISEASE CLASSIFICATION; FAHR DISEASE; GANGLIOSIDOSIS; HALLERVORDEN SPATZ DISEASE; HEREDITARY OPTIC ATROPHY; HUMAN; HUNTINGTON CHOREA; IMAGE ANALYSIS; INBORN ERROR OF METABOLISM; KEARNS SAYRE SYNDROME; LEIGH DISEASE; LIPIDOSIS; MELAS SYNDROME; MENKES SYNDROME; MERFF SYNDROME; METABOLIC DISORDER; MUCOPOLYSACCHARIDOSIS; NEUROANATOMY; NEURONAL CEROID LIPOFUSCINOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PELIZAEUS MERZBACHER DISEASE; PRIORITY JOURNAL; ZELLWEGER SYNDROME;

ADULT; BRAIN; BRAIN DISEASES, METABOLIC; CHILD; CHILD, PRESCHOOL; FEMALE; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE;

EID: 0036188049     PISSN: 08993459     EISSN: None     Source Type: Journal    
DOI: 10.1097/00002142-200202000-00002     Document Type: Article

References (111)

1. Value of neuroimaging in metabolic diseases affecting the CNS
2. Imaging of metabolic diseases of the brain
3. Localized MR spectroscopy of neurodegenerative disease and tumors
4. Clinical proton MR spectroscopy of neurodegenerative disease in childhood
5. Metabolic and neurodegenerative disorders and disorders with abnormal Myelination
6. Metabolic and degenerative disorders
7. Alexander's disease: A disease of astrocytes
8. Infantile Alexander disease: MR appearance of a biopsy-proved case
9. Alexander's disease: A report and reappraisal
10. Computed tomography in Alexander's disease
11. Metabolic and destructive brain disorders in children: Findings with localized proton of MR spectroscopy
12. Defective biosynthesis of proleolipid protein in Pelizaeus-Merzbacher disease
13. Pelizaeus Merzbacher disease
14. Pattern recognition in magnetic resonance imaging of white matter disorders in children and young infants
15. MR imaging of the brain in five members of a family with Pelizaeus-Merzbacher disease
16. MR imaging of adrenoleukodystrophy
17. Adrenoleukodystrophy: Correlating MR imaging with CT
18. Adrenoleukodystrophy: From bedside to molecular radiology
19. Adrenoleukodystrophy: A clinical and pathological study of 17 cases
20. Reversal of early neurologic and neuroradiologic manifestations of x-linked adrenoleukodystrophy by bone marrow transplantation
21. Dwarfism with retinal atrophy and deafness
22. Cerebral degenerations of childhood
23. MRI in Cockaynes syndrome, type I
24. Aspartocyclase deficiency and N-acetylaspartic aciduria in patients with Canavan's disease
25. Use of computed tomography, magnetic resonance imaging and localized IH magnetic resonance spectroscopy in Canavan's disease: A case report
26. Electron microscopic and enzyme histochemical studies of the cerebellum in spongy degeneration
27. Lysosomes peroxisomes and mitochondria: Function and disorder
28. Peroxisomal diseases: Zellweger syndrome. Adrenoleukodystrophy and Refum disease
29. MR of Zellweger syndrome
30. Peroxisomal disorders in neurology
31. Disorders of lysosomes, peroxisomes and mitochondria
32. Mitochondrial myopathies
33. Lysosomes, peroxisomes, and mitochondria: Function and disorder
34. Magnetic resonance imaging in subacute necrotizing encephalomyelopathy (Leigh's disease)
35. Subacute necrotizing encephalomyelopathy. A review and a study of two families
36. Subacute necrotizing encephalomyeopathy (Leigh disease): CT study
37. Leigh disease (subacute necrotizing encephalomyelopathy): MR documentation of the evolution of an acute attack
38. Cerebral dysgenesis and lactic academia: An MRI/MRS prototype associated with pyruvate dehydrogenase deficiency
39. Proton spectroscopy in five patients with Leigh's disease and mitochondrial enzyme deficiency
40. Melas syndrome involving a mother and two children
41. Molecular genetics, pseudogenetics and clinical neurology
42. CT and MRI of MELAS syndrome
43. Metabolic and endocrine diseases
44. Mitochondrial disorders: Analysis of their clinical and imaging characteristics
45. Genetic disorders of mitochondrial function
46. Retinitis pigmentosa, external ophthalmoplegia and complete heart block
47. Leber hereditary optic atrophy
48. Mitochondria and Leber's heriditary optic neuropathy
49. Neurological studies in families with Leber's optic atrophy
50. Leber's hereditary optic neuropathy and complex 1 deficiency in muscle
51. MR and CT in cytoplasmically inherited striatal degeneration
52. A sex-linked recessive disorder with retardation of growth, peculiar hair and focal and cerebellar degeneration
53. Trichopoliodystrophy: Report of a case and biochemical studies
54. Cerebral MR of Menkes kinky-hair disease
55. The neuronal ceroid lipofuscinosis
56. Neuronal ceroid lipofusinosis: A clinical and morphological study of 19 patients
57. Clinical classification of neuronal ceroid lipofuscinosis
58. MRI and localized proton MRS in early infantile form of neuronal ceroid lipofusinosis
59. EEG sleep spindles and SPEC in the early diagnosis of infantile neuronal lipofuscinosis
60. Localized proton magnetic resonance spectroscopy of cerebral metabolic disturbances in children with neuronal ceroid lipofuscinosis
61. Cytochrome C oxidase in a floppy infant
62. Progressive infantile poliodystrophy: Association with disturbed pyruvate oxidation in muscle and liver
63. Mitochondrial encephalomyopathies in childhood: Biochemical and morphological investigations
64. Computed tomography studies on patients with mucopolysaccaridoses
65. Mucopolysaccharidoses: Characterized by cranial MR imaging
66. MRI of the brain and craniocervical junction in Morquio's disease
67. Clinical proton MR spectroscopy of neurodegenerative disease in childhood
68. Neurologic degenerative diseases
69. Sulfatide lipidosis: Metachromatic leukodrystophy
70. Metachromatic leukodystrophy: Comparison of early and late onset forms
71. Metachromatic leukodystrophy: Review of 38 cases
72. MR of childhood metachromatic leukodystrophy
73. MRI appearances of metachromatic leukodystrophy
74. Krabbe's disease: Clinical presentation of neurological variants
75. Adult G1 gangliosidosis: Clinical and biochemical studies on two patients and comparison to other patients called variant or adult. GM1 gangliosidosis
76. Generalized gangiosidosis
77. Sandhoff's disease (GM 2 gangliosidosis Type 2): Clinical, chemical and enzyme studies in five patients
78. MRI in the early stage of Tay-Sachs disease
79. Magnetic resonance imaging of metabolic and primary white matter disorder in children
80. The influence of mutations in enzyme activity and phenylalanine tolerance in phenylalalnine hydroxylase deficiency
81. Tetrahydrobiopterin deficiencies: Preliminary analysis from an international survey
82. Cerebral MRI appearances in phenylketonuria
83. Maternal phenylketonuria: Magnetic resonance imaging of the brain in offspring
84. Magnetic resonance imaging in phenylketonuria: Reversal of cerebral white matter change
85. Phenylketonuria: Findings of MR imaging and localized in vivo H-1 MR spectroscopy of the brain in patients with early treatment
86. Maple syrup urine disease: Findings on CT and MR scans in 10 infants
87. Newborn screening for maple syrup disease (branched chain ketoaciduria)
88. Abnormalities of amino acid metabolism
89. Maple syrup urine disease: Metabolic decompensation monitored by proton magnetic resonance imaging and spectroscopy
90. Proton MR spectroscopy of the brain: Clinically useful information obtained in assessing CNS diseases in children
91. Glutaric aciduria type I: MR findings in two cases
92. Glutaric aciduria type I: Brain CT features and a diagnostic pitfall
93. Recurrent hypoglycemia associated with glutaric aciduria type II in an adult
94. Glutaric academia type II: Neuroimaging and spectroscopy evidence for developmental encephalomyopathy
95. Huntington's chorea in childhood
96. Juvenile Huntington's chorea
97. Juvenile Huntington's disease: CT and MR features
98. Observations in Huntington's chorea in childhood
99. Excitotoxic injury of the neostriatum: A model for Huntington's disease
100. Bilateral basal ganglia lesions: Pediatric differential considerations
101. Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20 p 12.3-p-13
102. Hallervorden-Spatz disease
103. Hallervorden-Spatz disease: MR and pathologic findings
104. MR imaging of Hallervorden-Spatz disease
105. Heredodegenerative diseases
106. Case report: MR imaging in Fahr's disease
107. Magnetic resonance of the brain in Wilson's disease
108. Clinical assessment of 31 patients with Wilson's disease: Correlation with structural changes on magnetic resonance imaging