Role of electron microscopy in the diagnosis of metabolic storage diseases affecting the nervous system of children

Ultrastructural Pathology

Volumn 21, Issue 4, 1997, Pages 345-354

  Mierau, Gary W ^a,b   Weeks, Douglas A ^b  

^a CHILDREN S HOSPITAL   (United States)

^b LOMA LINDA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Childhood; Electron microscopy; Metabolic staorage disease; Nervous system

Indexed keywords

ADOLESCENT; ARTICLE; CLINICAL ARTICLE; CONJUNCTIVA; FEMALE; HUMAN; HUMAN TISSUE; LIVER BIOPSY; MALE; METABOLIC ENCEPHALOPATHY; MYOCLONUS EPILEPSY; NEURONAL CEROID LIPOFUSCINOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; REFSUM DISEASE; SKIN BIOPSY; STORAGE DISEASE; ULTRASTRUCTURE;

EID: 0030923274     PISSN: 01913123     EISSN: None     Source Type: Journal    
DOI: 10.3109/01913129709021932     Document Type: Article

References (17)

1. Lake BD. Lysosomal and peroxisomal disorders. In: Adams JH, Duchen LW, ed. Greensfield's Neuropathology, 5th ed. New York: Oxford University Press; 1992:709-810.
2. Dustin P. Storage diseases. In: Papadimitrou JM, Henderson DW, Spagnolo DV, ed. Diagnostic Ultrastructure of Non-neoplastic Diseases. Edinburgh: Churchill Livingstone; 1992.
3. Iancu TC. The ultrastructural spectrum of lysosomal storage diseases. Ultrastruct Pathol. 1992;16:231-244.
4. Carpenter S, Karpati G. Sweat gland duct cells in Lafora disease: diagnosis by skin biopsy. Neurology. 1981;31:1564-1568.
5. Ghadially FN. Ultrastructural Pathology of the Cell and Matrix, 3d ed. London: Butterworths; 1988:1340.
6. Brimijoin WS. Research review. Abnormalities of axonal transport: Are they a cause of peripheral nerve disease? Mayo Clin Proc. 1982;57:707-714.
7. Kimura S. Terminal axon pathology in infantile neuroaxonal dystrophy. Pediatr Neurol. 1991;7:116-120.
8. Ramaekers VT, Lake BD, Harding B, et al. Diagnostic difficulties in infantile neuroaxonal dystrophy: a clinicopathological study of eight cases. Neuropediatrics. 1987;18:170-175.
9. Ferreira RC, Mierau GW, Bateman JB. Conjunctival biopsy in infantile neuroaxonal dystrophy. Am J Opthalmol. 1997;123:264-266.
10. Rapola J. Neuronal ceroid-lipofuscinoses in childhood. In: Landing BH, Haust MD, Bernstein J, Rosenberg HS, ed. Genetic Metabolic Diseases. Basel: Karger; 1993: 7-44 (Bernstein J, Rosenberg HS, eds. Perspect Pediatr Pathol, vol 17).
11. Rapola J. Neuronal ceroid-lipofuscinoses in childhood. In: Landing BH, Haust MD, Bernstein J, Rosenberg HS, ed. Genetic Metabolic Diseases. Basel: Karger; 1993: 7-44 (Bernstein J, Rosenberg HS, eds. Perspect Pediatr Pathol, vol 17).
12. Hall NA, Lake BD, Patrick AD. Recent biochemical and genetic advances in our understanding of Batten's disease (ceroid-lipofuscinosis). Dev Neurosci. 1991;13:339-344.
13. Goebel HH. Prenatal ultrastructural diagnosis in the neuronal ceroid-lipofuscinoses. Pathol Res Pract. 1994;190:728-733.
14. Dimmick JE, Applegarth DA. Pathology of peroxisomal disorders. In: Landing BH, Haust MD, Bernstein J, Rosenberg HS, ed. Genetic Metabolic Diseases. Basel: Karger; 1993: 45-98 (Bernstein J, Rosenberg HS, eds. Perspect Pediatr Pathol, vol 17).
15. Dimmick JE, Applegarth DA. Pathology of peroxisomal disorders. In: Landing BH, Haust MD, Bernstein J, Rosenberg HS, ed. Genetic Metabolic Diseases. Basel: Karger; 1993: 45-98 (Bernstein J, Rosenberg HS, eds. Perspect Pediatr Pathol, vol 17).
16. Jaeken J, Stibler H, Hagberg B, eds. The carbohydrate-deficient glycoprotein syndrome: a new inherited multi-system disease with severe nervous system involvement. Acta Paediatr Scand Suppl 1991;375:1-67.
17. Conradi N, de Vos R, Jaeken J, Lundin P, Kristiansson B, VanHoof F. Liver pathology in the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr Scand Suppl 1991; 375:50-54.