Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You and Your Team.

Learn More →

Adrenoleukodystrophy: A Clinical and Pathological Study of 17 Cases

Adrenoleukodystrophy: A Clinical and Pathological Study of 17 Cases Abstract • Adrenoleukodystrophy was diagnosed pathologically in 17 male patients. The diagnosis was suggested by clinical and laboratory signs of primary adrenal failure and by neurological signs referable to the degeneration of white matter. Neurological findings usually predominated over clinical stigmata of adrenal failure. Adrenal biopsy has proved to be the most reliable diagnostic test, while brain biopsy has often been misleading. The histological picture of the brain lesion differs substantially from that of the adrenal, but the presence of similar ultrastructural cytoplasmic inclusions suggests a common metabolic disorder. Morphological analysis of the cerebral lesion indicates that the destruction may spread in a caudal-rostral direction. The intense inflammatory cell response occurs within the demyelinated areas, behind the area of active myelin breakdown, and appears to be a secondary feature of white matter degeneration. References 1. Siemerling E, Creuzfeldt HG: Bronzenkrankenheit und sklerosierende Encephalomyelitis . Arch Psychiatr Nervenkr 68:217-244, 1923. 2. Pfister R: Beitrag zur kenntnis der diffusen Hirnskerose . Arch Psychiatr Nervenkr 105:1-16, 1936. 3. Hampel E: Morbus Addisonii und sklerosierende Erkrankung des Hemisphärenmarks . Dtsch Z Nervenheilik 142:186-208, 1937.Crossref 4. Adams RD, Kubik CS: The morbid anatomy of the demyelinating diseases . Am J Med 12:510-546, 1952.Crossref 5. Lichtenstein BW, Rosenbluth PR: Schilder's disease with melanoderma . J Neuropathol Exp Neurol 18:384-396, 1959.Crossref 6. Gagnon J, Leblanc R: Sclérose cérébrale diffuse avec melanodermie et atrophie surrénale . Un Med Can 88:392-415, 1959. 7. Brun A, Voight GD: Entzundiliche cerebral Sklerose mit Nebenniereninsuffizienz . Dtsch Z Nervenheilik 180:654-668, 1960. 8. Hoefnagel D, Vanden Noort S, Ingbar SH: Diffuse cerebral sclerosis with endocrine abnormalities in young males . Brain 85:553-569, 1962.Crossref 9. Fanconi VA, Prader A, Iser W, et al: Morbus Addison mit Hirnsklerose im Kindersalter: Ein heriditäres Syndrom mit X-chromosomaler Verebung? Helv Paediatr Acta 18:480-501, 1963. 10. Blaw M, Osterberg K, Kozak P, et al: Sudanophilic leukodystrophy and adrenal cortical atrophy . Arch Neurol 11:626-631, 1964.Crossref 11. Dubois PR, Loeb H, Périer O, et al: Maladie d'Addison et sclerosie diffuse de Schilder . Helv Paediatr Acta 19:528-555, 1964. 12. Gordon N, Marsden HB: Diffuse cerebral sclerosis and adrenal atrophy . Dev Med Child Neurol 8:719-723, 1966.Crossref 13. Turkington RW, Stempfel RS: Adrenocortical atrophy and diffuse cerebral sclerosis (Addison-Schilder's disease) . J Pediatr 69:406-412, 1966.Crossref 14. Hoefnagel D, Brun A, Ingbar SH, et al: Addison's disease and diffuse cerebral sclerosis . J Neurol Neurosurg Psychiatry 30:56-60, 1967.Crossref 15. Aguilar MJ, O'Brien JS, Taber P: The syndrome of familial leucodystrophy, adrenal insufficiency and cutaneous melanosis , in Aronson SM, Volk BW (eds): Inborn Errors of Sphingolipid Metabolism , New York, Pergamon Press, 1967, pp 149-166. 16. Farkas-Bargeton E, Sarrut S, Philippart M, et al: Demyelination du systéme nerveux central associé à une atrophic cortico-surrénale . Rev Neurol 117:627-641, 1967. 17. Vick NA, Moore RA: Diffuse sclerosis with adrenal insufficiency . Neurology 18:1066-1074, 1968.Crossref 18. Riedel H: Beitrag zur Frage der diffusen kindlichen Hirnsklerose mit primärer Nebennierendystrophyie . Psychiat Neurol Med Psychol 20:67-75, 1968. 19. Gray AM: Addison's disease and diffuse sclerosis . J Neurol Neurosurg Psychiatry 32:344-347, 1969.Crossref 20. Cotrufo R, Salvati G, Morealdi L, et al: Che cosa e la malattia di Schilder? Acta Neurol 24:301-304, 1969. 21. Gerhard L, Reinhard K, Solbach HG: Zur Morphologie und Athiologie der Encephalopathie beim Morbus Addison . Verh Dtsch Ges Pathol 54:305-312, 1970. 22. Suzuki K, Grover WD: Ultrastructural and biochemical studies of Schilder's disease . J Neuropathol Exp Neurol 29:392-404, 1970.Crossref 23. BugianiO, Balestreri R: Addison-Schilder's disease . Confin Neurol 33:208-220, 1971.Crossref 24. Chamoles ND, Hainaut H, Hariga J: Contribution génétique à l'étude de la maladie d'Addison-Schilder . J Neurol Sci 14:457-462, 1971.Crossref 25. Forsyth CD, Forbes M, Cumings JN: Adrenocortical atrophy and diffuse cerebral sclerosis . Arch Dis Child 46:273-389, 1971.Crossref 26. Schaumburg HH, Richardson EP, Johnson PC, et al: Schilder's disease: Sex-linked transmission with specific adrenal changes . Arch Neurol 27:458-460, 1972.Crossref 27. Powers JM, Schaumburg HH: The adrenal cortex in adreno-leukodystrophy . Arch Pathol 96:305-310, 1973. 28. Powers JM, Schaumburg HH: Adreno-leukodystrophy: Similar ultrastructural changes in adrenal cortical cells and Schwann cells . Arch Neurol 30:406-408, 1974.Crossref 29. Powers JM, Schaumburg HH: Adreno-leukodystrophy (sex-linked Schilder's disease): A pathogenetic hypothesis based on ultrastructural lesions in adrenal cortex, peripheral nerve and testis . Am J Pathol 76:481-500, 1974. 30. Schaumburg HH, Powers JM, Suzuki K, et al: Adreno-leukodystrophy (sex-linked Schilder disease): Ultrastructural demonstration of specific cytoplasmic inclusions in the central nervous system . Arch Neurol 31:210-213, 1974.Crossref 31. Powell H, Tindall R, Schultz P, et al: Adrenoleukodystrophy: A storage disease involving white matter . J Neuropathol Exp Neurol , to be published. 32. Blaw ME: Melanodermic type leukodystrophy (adreno-leukodystrophy) , in Vinken PJ, Bruyn GW (eds): Handbook of Clinical Neurology . New York, American Elsevier, 1970, vol 10, pp 128-133. 33. Richardson EP: Schilder's disease: What is it? J Neuropathol Exp Neurol to be published . 34. Pilz P, Scheiner P: Kombination von Morbus Addison und Morbus Schilder bei einer 43 jährigen Frau . Acta Neuropathol 26:357-360, 1973.Crossref 35. Harris-Jones JN, Nixon PGF: Familial Addison's disease with spastic paraplegia . J Clin Endocrinol 15:739-743, 1955.Crossref 36. Penman RWB: Addison's disease in association with spastic paraplegia . Br Med J 1:402, 1960.Crossref 37. Nellhaus G: Cerebrospinal fluid immunoglobulin G in childhood . Arch Neurol 24:441-448, 1971.Crossref 38. Poser CM: Myelinoclastic diffuse and transitional sclerosis , in Vinken PJ, Bruyn GW (eds): Handbook of Clinical Neurology , New York, American Elsevier, 1970, vol 9, pp 469-484. 39. Poser CM: Diseases of the myelin sheath , in Minckler J (ed): Pathology of the Nervous System . New York, McGraw Hill Book Co Inc, 1968, pp 767-821. 40. Suzuki Y, Tucker SH, Rorke LB, et al: Ultrastructural and biochemical studies of Schilder's disease . J Neuropathol Exp Neurol 29:404-419, 1970. 41. Eto Y, Suzuki K: Fatty acid composition of cholesterol esters in brains of patients with Schilder's disease, GM1 gangliosidosis and TaySachs disease . J Neurochem 18:1008-1016, 1971. 42. Burton BK, Nadler HL: X-linked Schilder's disease: A generalized disorder of cholesterol metabolism? Pediatr Res 8:170-175, 1974.Crossref 43. Arnason BGW, Oger J, Kistler P, et al: Increased B cells in multiple sclerosis and Schilder's disease . Neurology 24:385, 1974. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

Adrenoleukodystrophy: A Clinical and Pathological Study of 17 Cases

Loading next page...
 
/lp/american-medical-association/adrenoleukodystrophy-a-clinical-and-pathological-study-of-17-cases-IvUNGoYihi
Publisher
American Medical Association
Copyright
Copyright © 1975 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1975.00490510033001
Publisher site
See Article on Publisher Site

Abstract

Abstract • Adrenoleukodystrophy was diagnosed pathologically in 17 male patients. The diagnosis was suggested by clinical and laboratory signs of primary adrenal failure and by neurological signs referable to the degeneration of white matter. Neurological findings usually predominated over clinical stigmata of adrenal failure. Adrenal biopsy has proved to be the most reliable diagnostic test, while brain biopsy has often been misleading. The histological picture of the brain lesion differs substantially from that of the adrenal, but the presence of similar ultrastructural cytoplasmic inclusions suggests a common metabolic disorder. Morphological analysis of the cerebral lesion indicates that the destruction may spread in a caudal-rostral direction. The intense inflammatory cell response occurs within the demyelinated areas, behind the area of active myelin breakdown, and appears to be a secondary feature of white matter degeneration. References 1. Siemerling E, Creuzfeldt HG: Bronzenkrankenheit und sklerosierende Encephalomyelitis . Arch Psychiatr Nervenkr 68:217-244, 1923. 2. Pfister R: Beitrag zur kenntnis der diffusen Hirnskerose . Arch Psychiatr Nervenkr 105:1-16, 1936. 3. Hampel E: Morbus Addisonii und sklerosierende Erkrankung des Hemisphärenmarks . Dtsch Z Nervenheilik 142:186-208, 1937.Crossref 4. Adams RD, Kubik CS: The morbid anatomy of the demyelinating diseases . Am J Med 12:510-546, 1952.Crossref 5. Lichtenstein BW, Rosenbluth PR: Schilder's disease with melanoderma . J Neuropathol Exp Neurol 18:384-396, 1959.Crossref 6. Gagnon J, Leblanc R: Sclérose cérébrale diffuse avec melanodermie et atrophie surrénale . Un Med Can 88:392-415, 1959. 7. Brun A, Voight GD: Entzundiliche cerebral Sklerose mit Nebenniereninsuffizienz . Dtsch Z Nervenheilik 180:654-668, 1960. 8. Hoefnagel D, Vanden Noort S, Ingbar SH: Diffuse cerebral sclerosis with endocrine abnormalities in young males . Brain 85:553-569, 1962.Crossref 9. Fanconi VA, Prader A, Iser W, et al: Morbus Addison mit Hirnsklerose im Kindersalter: Ein heriditäres Syndrom mit X-chromosomaler Verebung? Helv Paediatr Acta 18:480-501, 1963. 10. Blaw M, Osterberg K, Kozak P, et al: Sudanophilic leukodystrophy and adrenal cortical atrophy . Arch Neurol 11:626-631, 1964.Crossref 11. Dubois PR, Loeb H, Périer O, et al: Maladie d'Addison et sclerosie diffuse de Schilder . Helv Paediatr Acta 19:528-555, 1964. 12. Gordon N, Marsden HB: Diffuse cerebral sclerosis and adrenal atrophy . Dev Med Child Neurol 8:719-723, 1966.Crossref 13. Turkington RW, Stempfel RS: Adrenocortical atrophy and diffuse cerebral sclerosis (Addison-Schilder's disease) . J Pediatr 69:406-412, 1966.Crossref 14. Hoefnagel D, Brun A, Ingbar SH, et al: Addison's disease and diffuse cerebral sclerosis . J Neurol Neurosurg Psychiatry 30:56-60, 1967.Crossref 15. Aguilar MJ, O'Brien JS, Taber P: The syndrome of familial leucodystrophy, adrenal insufficiency and cutaneous melanosis , in Aronson SM, Volk BW (eds): Inborn Errors of Sphingolipid Metabolism , New York, Pergamon Press, 1967, pp 149-166. 16. Farkas-Bargeton E, Sarrut S, Philippart M, et al: Demyelination du systéme nerveux central associé à une atrophic cortico-surrénale . Rev Neurol 117:627-641, 1967. 17. Vick NA, Moore RA: Diffuse sclerosis with adrenal insufficiency . Neurology 18:1066-1074, 1968.Crossref 18. Riedel H: Beitrag zur Frage der diffusen kindlichen Hirnsklerose mit primärer Nebennierendystrophyie . Psychiat Neurol Med Psychol 20:67-75, 1968. 19. Gray AM: Addison's disease and diffuse sclerosis . J Neurol Neurosurg Psychiatry 32:344-347, 1969.Crossref 20. Cotrufo R, Salvati G, Morealdi L, et al: Che cosa e la malattia di Schilder? Acta Neurol 24:301-304, 1969. 21. Gerhard L, Reinhard K, Solbach HG: Zur Morphologie und Athiologie der Encephalopathie beim Morbus Addison . Verh Dtsch Ges Pathol 54:305-312, 1970. 22. Suzuki K, Grover WD: Ultrastructural and biochemical studies of Schilder's disease . J Neuropathol Exp Neurol 29:392-404, 1970.Crossref 23. BugianiO, Balestreri R: Addison-Schilder's disease . Confin Neurol 33:208-220, 1971.Crossref 24. Chamoles ND, Hainaut H, Hariga J: Contribution génétique à l'étude de la maladie d'Addison-Schilder . J Neurol Sci 14:457-462, 1971.Crossref 25. Forsyth CD, Forbes M, Cumings JN: Adrenocortical atrophy and diffuse cerebral sclerosis . Arch Dis Child 46:273-389, 1971.Crossref 26. Schaumburg HH, Richardson EP, Johnson PC, et al: Schilder's disease: Sex-linked transmission with specific adrenal changes . Arch Neurol 27:458-460, 1972.Crossref 27. Powers JM, Schaumburg HH: The adrenal cortex in adreno-leukodystrophy . Arch Pathol 96:305-310, 1973. 28. Powers JM, Schaumburg HH: Adreno-leukodystrophy: Similar ultrastructural changes in adrenal cortical cells and Schwann cells . Arch Neurol 30:406-408, 1974.Crossref 29. Powers JM, Schaumburg HH: Adreno-leukodystrophy (sex-linked Schilder's disease): A pathogenetic hypothesis based on ultrastructural lesions in adrenal cortex, peripheral nerve and testis . Am J Pathol 76:481-500, 1974. 30. Schaumburg HH, Powers JM, Suzuki K, et al: Adreno-leukodystrophy (sex-linked Schilder disease): Ultrastructural demonstration of specific cytoplasmic inclusions in the central nervous system . Arch Neurol 31:210-213, 1974.Crossref 31. Powell H, Tindall R, Schultz P, et al: Adrenoleukodystrophy: A storage disease involving white matter . J Neuropathol Exp Neurol , to be published. 32. Blaw ME: Melanodermic type leukodystrophy (adreno-leukodystrophy) , in Vinken PJ, Bruyn GW (eds): Handbook of Clinical Neurology . New York, American Elsevier, 1970, vol 10, pp 128-133. 33. Richardson EP: Schilder's disease: What is it? J Neuropathol Exp Neurol to be published . 34. Pilz P, Scheiner P: Kombination von Morbus Addison und Morbus Schilder bei einer 43 jährigen Frau . Acta Neuropathol 26:357-360, 1973.Crossref 35. Harris-Jones JN, Nixon PGF: Familial Addison's disease with spastic paraplegia . J Clin Endocrinol 15:739-743, 1955.Crossref 36. Penman RWB: Addison's disease in association with spastic paraplegia . Br Med J 1:402, 1960.Crossref 37. Nellhaus G: Cerebrospinal fluid immunoglobulin G in childhood . Arch Neurol 24:441-448, 1971.Crossref 38. Poser CM: Myelinoclastic diffuse and transitional sclerosis , in Vinken PJ, Bruyn GW (eds): Handbook of Clinical Neurology , New York, American Elsevier, 1970, vol 9, pp 469-484. 39. Poser CM: Diseases of the myelin sheath , in Minckler J (ed): Pathology of the Nervous System . New York, McGraw Hill Book Co Inc, 1968, pp 767-821. 40. Suzuki Y, Tucker SH, Rorke LB, et al: Ultrastructural and biochemical studies of Schilder's disease . J Neuropathol Exp Neurol 29:404-419, 1970. 41. Eto Y, Suzuki K: Fatty acid composition of cholesterol esters in brains of patients with Schilder's disease, GM1 gangliosidosis and TaySachs disease . J Neurochem 18:1008-1016, 1971. 42. Burton BK, Nadler HL: X-linked Schilder's disease: A generalized disorder of cholesterol metabolism? Pediatr Res 8:170-175, 1974.Crossref 43. Arnason BGW, Oger J, Kistler P, et al: Increased B cells in multiple sclerosis and Schilder's disease . Neurology 24:385, 1974.

Journal

Archives of NeurologyAmerican Medical Association

Published: Sep 1, 1975

References