Summary
The Ct appearance of adrenoleukodystrophy is discussed on the basis of 16 personal observations and a review of the literature. CT appearance was typical in 10 of the 16 cases, atypical but suggestive of adrenoleukodystrophy in four cases, and misleading in two cases. Atypical CT presentations were most often observed at an early phase of the disease and included unilateral lesions or lesions without opacification at the periphery of the edemalike areas after contrast enhancement. In three cases, neurological signs, CT scans, and conjunctival and skin biopsies were highly suggestive of adrenoleukodystrophy, but there was no adrenal insufficiency. These cases may correspond to an evolutive or phenotypic variant of adrenoleukodystrophy.
Similar content being viewed by others
References
Aguilar MJ, O'Brien JS, Tabes P (1967) The syndrome of familial leucodystrophy, adrenal insufficiency and cutaneous melanosis. In: Aronson SM, Vol BW (eds) Inborn errors in sphingolipid metabolism. Pergamon Press, New York, pp 149–166
Aubourg P, Chaussain JL, Dulac O, Arthuis M (1982) Adrenoleucodystrophy in childhood: a review of 20 cases. Arch Fr Pediatr (in press)
Arsenio Nunes ML, Goutieres F, Aicardi J (1981) An ultramicroscopic study of skin and conjunctival biopsies in chronic neurological disorder of childhood. Ann Neurol 9:163–173
Blaw ME (1970) Melanodermic type leucodystrophy (adrenoleucodystrophy) In: Vinken PJ, Bruyen GW (eds) Handbook of clinical neurology, Vol 10. North Holland, Amsterdam, pp 128–133
Brooks BS, El Gammal T (1982) An additional case of adrenoleukodystrophy with both Type I and Type II CT features. J Comput Assist Tomogr 6:385–388
Case Records of the Massachusetts General Hospital (1962) N Engl J Med 266:191–196
Case Records of the Massachusetts General Hospital (1963) N Engl J Med 300:1037–1045
Crome L, Zapella M (1963) Schilder's disease in five male members of one family. J Neurol Neurosurg Psychiatry 26: 431–438
Davis LE, Snyder RD, Orth DN, Nicholson WE, Kornfeld M, Seelinger DF (1979) Adrenoleucodystrophy and adrenomyeloneuropathy associated with partial adrenal insufficiency in three generations of a kindred. Am J Med 66:342–347
Di Chiro G, Eiben RM, Manz HJ, Jacobs IB, Schellinger D (1980) A new CT pattern in adrenoleukodystrophy. Radiology 137:687–692
Dubois PJ, Freemark M, Lewis D, Drayer BP, Heinz ER, Osborne D (1981) Atypical findings in adrenoleukodystrophy. J Comput Assist Tomogr 5:888–891
Duda FF, Huttenlocher PR (1976) Computed tomography in adrenoleucodystrophy: correlation of radiological and histological findings. Radiology 12:349–350
Eiben RM, Di Chiro G (1977) Computer assisted tomography in adrenoleukodystrophy. J Comput Assist Tomogr 1:308–314
Fanconi A, Prader A, Isler W (1963) Morbus Addison mit Hirnsklerose im Kindesalter. Helv Paediatr Acta 18:480–501
Furuse M, Obayashi T, Tsuji S, Miyatake R (1978) Adrenoleucodystrophy: a correlative analysis of computed tomography and radionuclide studies. Radiology 126:707–710
Gagnon J, Leblanc R (1959) Sclerose cérébrale diffuse avec mélanodermie et atrophie surrenale. Union Med Can 88:392–415
Gerhard L, Meinhardt V, Sollsach HG (1970) Zur Morphologie und Aetiologie der Encephalopathie bei Morbus-Addison. Verh Dtsch Ges Pathol 54:305–312
Greenberg S, Halverson D, Lane B (1977) CT scanning and diagnosis of adrenoleucodystrophy. Neurology 27:884–886
Heinz ER, Drayer BP, Haengeli CA, Pamter MJ, Crumrine P (1979) Computed tomography in white matter disease. Radiology 130:371–378
Hoefnagel D, Van Den Noort S, Ingbar SH (1962) Diffuse cerebral sclerosis with endocrine abnormalities in young males. Brain 85:553–568
Igarashi M, Schaumburg HH, Powers J et al (1976) Fatty acid abnormality in adrenoleucodystrophie. J Neurochem 26: 851–860
Lane B, Caroll BA, Pedley TA (1978) Computerized cranial tomography in cerebral diseases of white matter. Neurology 28:534–544
Martin JJ, Ceuterik C, Martin L et al (1977) Skin and conjunctival biopsies in adrenoleucodystrophy. Acta Neuropathol 38: 247–250
Martin JJ, Ceuterik C (1978) Morphological study of skin biopsy specimens: a contribution to the diagnosis of metabolic disorders with involvement of the nervous system. J Neurol Neurosurg Psychiatry 41:232–248
Martin JJ, Ceuterik C, Libert J (1980) Skin and conjunctival nerve biopsies in adrenoleucodystrophy and its variants. Ann Neurol 8:291–295
Menkes JH, Eviatar L (1969) Diffuse sclerosis and Addison's disease: evidence for the presence of an abnormal sterol in white matter. Pediatr Res 3:359
Menkes JH, Corbo LM (1977) Adrenoleucodystrophy: accumulation of cholesterolesters with very long chain fatty acid. Neurology 27:928–932
Moser HW, Moser AB, Kawamura N, Murphy J, Suzuki J, Schaumburg HH, Kishimoto Y (1980) Adrenoleucodystrophy: elevated C26 fatty acid in cultured skin fibroblasts. Ann Neurol 7:542–548
Moser HW, Moser AB, Kawamura N, Migeon B, O'Neill B, Fenselan C, Kishimoto Y (1980) Adrenoleucodystrophy: delineation of the phenotype and implications of recent genetic and biochemical studies. John Hopkins Med J 147:217–224
Moser HW, Moser AB, Brown FR et al (1981) Adrenoleukodystrophy: prenatal diagnosis and heterozygote detection. Ann Neurol 10:283
Moser HW, Moser AB, Frayer KK, Chen W, Sailman JC, O'Neill BP, Kishimoto Y (1981) Adrenoleucodystrophy: increased plasma content of saturated very long chain fatty acids. Neurology 31:1241–1249
Poser CM, Van Bogaert L (1956) Natural history and evolution of the concept of Schilder's diffuse sclerosis. Acta Psychiatr Scand 31:285–331
Poser CM (1960) The differential diagnosis of diffuse sclerosis in children. Am J Dis Child 100:380–388
Poser CM (1960) Diseases of the myelin sheath. In: Minckler J (ed) Pathology of the nervous system. McGraw Hill, New York, pp 777–821
Powell H, Tindall R, Schultz P et al (1975) Adrenoleukodystrophy: electron microscopic findings. Arch Neurol 32:250–260
Powers JM, Schaumburg HH (1973) The adrenal cortex in adrenoleucodystrophy. Arch Pathol 96:305–310
Powers JM, Schaumburg HH (1974) Adrenoleucodystrophy: similar ultrastructural changes in adrenal cortical cells and Schwann cells. Arch Neurol 30:406–408
Powers JM, Schaumburg HH (1974) Adrenoleucodystrophy (sex-linked Schilder's disease): a pathogenic hypothesis based on ultrastructural lesions in adrenal cortex, peripheral nerve and testis. Am J Pathol 76:481–500
Probst A, Ulrich J, Hertz PU, Herschkowitz N (1980) Adrenomyeloneuropathy: a protracted variant of adrenoleucodystrophy. Acta Neuropathol (Berl) 49:105–115
Quisling RG, Audriola MR (1979) Computed tomographic evaluation of the early phase of adrenoleucodystrophy. Neuroradiology 17:285–288
Robertson JR, Gomez WC, Meese DF, Okazaki H (1977) Computerized tomography in demyelinating disease of the young. Neurology 27:838–842
Schaumburg HH, Richardson EP, Johnson PC et al (1972) Schilder's disease: sex-linked recessive transmission with specific adrenal changes. Arch Neurol 27:458–460
Schaumburg HH, Powers JM, Raine CS et al (1975) Adrenoleucodystrophy: a clinical and pathological study of 17 cases. Arch Neurol 32:577–591
Schaumburg HH, Powers JM, Raine CS et al (1977) Adrenomyeloneuropathy: a probable variant of adrenoleucodystrophy. II. General pathologic, neuropathologic and biochemical aspects. Neurology 27:1114–1119
Suzuki Y, Tucker SH, Moske LB et al (1970) Ultrastructural and biochemical studies in Schilder disease. J Neuropathol Exp Neurol 29:404–419
Ulrich J (1971) Die zerebralen Entmarkungskrankheiten des Kindesalters. Springer, Berlin Heidelberg New York, S42, 378
Valenstein E, Mosman NP, Caster AP (1971) Schilder's disease: positive brain scan. JAMA 217:1699–1700
Weiss GM, Nelson RL, O'Neill BP, Carney JA, Edis AJ (1980) Use of adrenal biopsy in diagnosing adrenoleucomyeloneuropathy. Arch Neurol 37:634–636
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Aubourg, P., Diebler, C. Adrenoleukodystrophy — Its diverse CT appearances and an evolutive or phenotypic variant: The leukodystrophy without adrenal insufficiency. Neuroradiology 24, 33–42 (1982). https://doi.org/10.1007/BF00344581
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00344581