Summary
This is the first description of a connatal case of adrenoleukodystrophy. The clinical picture consisted of severe psychomotor retardation, convulsions and hypsarrhythmia, but no obvious signs of adrenal insufficiency. Pathologically, the adrenals were small. The entire cortex was largely replaced by large round cells. Ultrastructurally, some cells in the adrenal cortex contained inclusions with electron-lucent clefts surrounded by a membrane. The anterior pituitary lobe could be demonstrated to have produced ACTH. The central nervous system showed extensive zones of demyelination in the brainstem, the cerebellum and the right-sided capsula interna. In the demyelinated areas there was sudanophilic breakdown and an intense gliosis. Ongoing demyelination could also be demonstrated by the chemical analysis. In the gray matter there were micropolygyria of the insular cortex and swollen nerve cells in the nucleus arcuatus. Ultrastructure revealed the type of inclusions in the microglia of the same type as in the adrenals, and a different type of inclusions in unidentifiable cells, possibly neurons. These latter inclusions consisted of loosely stacked lamellar material.
The findings are interpreted as further evidence of storage taking place in this disease.
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Aguilar, M. J., O'Brian, J. S., Tabor, P.: The syndrome of familial leukodystrophy, adrenal insufficiency and cutaneous melanosis. In: Aronson and Volk, eds.: Inborn disorders of sphingolipid metabolism. New York: Pergamon Press 1967
Budka, H., Sluga, E., Heiss, W. D.: Spastic paraplegia associated with Addison's disease: Adult variant of adreno-leukodystrophy. J. Neurol.213, 237–250 (1976)
Burton, B. K., Nadler, H. L.: Schilder's disease: Abnormal cholesterol retention and accumulation in cultivated fibroblasts. Pediat. Res.8, 170–175 (1974)
Cohadon, F., Vital, C., Loiseau, P., Henry, P., Rivel, J., Bonnard, E.: Leukodystrophie avec insuffisance surrénalienne (adrenoleucodystrophie). Rev. Neurol. (Paris)131, 407–418 (1975)
Coppoletta, J. M., Wolbach, S. B.: in: Crome, L., J. Stern: Pathology of mental retardation, 2nd edition, p. 486. Livingstone: Churchill 1972
Domagk, J., Lincke, J., Argyrakis, F., Spaar, W., Rahlf, G., Schulte, F. J.: Adrenoleukodystrophy. Neuropädiatrie6, 41–64 (1975)
Eviatar, L., Harris, D. R., Menkes, J. H.: Diffuse sclerosis and Addison's disease: Biochemical studies on gray matter, white matter and myelin. Biochem. Med.8, 268 (1973)
Farkas-Bargeton, E., Sarrut, S., Philippart, M., Lanney, C.: Démyélinisation du système nerveux central associée à une atrophie cortico-surrénale. Rev. Neurol. (Paris)117, 627–641 (1967)
Hauw, J. J., Escourolle, R.: Filamentous and multilamellated cytoplasmic inclusions in progressive multifocal leukoencephalopathy. Acta neuropath. (Berl.)37, 263–265 (1977)
Herschkowitz, N., McKhann, G. M., Saxena, S., Shooter, E. M.: Synthesis of sulphatide-containing lipoproteins in rat brain. J. Neurochem.16, 1049–1057 (1969)
Igarashi, M., Schaumburg, H. H., Powers, J., et al.: Fatty acid abnormality in adrenoleukodystrophy. J. Neurochem.26, 851 (1976)
Martin, J. K., Norman, R. M.: Maple syrup urine disease in an infant with microgyria. Dev. Med. Child Neurol.9, 152–159 (1967)
Martin, J. J., Ceuterick, C., Martin, L., Libert, J.: Skin and conjunctival biopsies in adrenoleukodystrophy. Acta neuropath. (Berl.)38, 247–250 (1977)
Menkes, J. H., Corbo, L. M.: Adrenoleukodystrophy: Accumulation of cholesterol esters with very long chain fatty acids. Neurology27, 928–932 (1977)
Norman, R. M., Tingey, A. H., Danby, T. A.: Sudanophilic leukodystrophy in a pachygyric brain. J. Neurol. Neurosurg. Psychiat.29, 157–163 (1962)
Pilz, B., Schiener, P.: Kombination von Morbus Addision und Morbus Schilder bei einer 43jährigen Frau. Acta neuropath. (Berl.)26, 357–360 (1973)
Powell, H., Tindall, R., Schultz, P., et al.: Adrenoleukodystrophy: Electron microscopic findings. Arch. Neurol.32, 250–260 (1975)
Powers, J. M., Schaumburg, H. H.: The adrenal cortex in adrenoleukodystrophy. Arch. Path.96, 305–310 (1973)
Powers, J. M., Schaumburg, H. H.: Adrenoleukodystrophy (sexlinked Schilder's disease). A pathogenetic hypothesis based on ultrastructural lesions in adrenal cortex, peripheral nerve and testis. Am. J. Pathol.76, 481–500 (1974)
Powers, J. M., Schaumburg, H. H.: Adrenoleukodystrophy (similar ultrastructural changes in adrenal cortical and Schwann cells). Arch. Neurol.30, 406–408 (1974)
Prineas, J.: Pathology of the early lesion in multiple sclerosis. Hum. Pathol.6, 531–554 (1975)
Prineas, J. W., Raine, C. S.: Electron microscopy and immunoperoxydase studies of early multiple sclerosis lesions. Neurology26, 29–32 (1976)
Siemerling, E., Creutzfeldt, H. G.: Bronzekrankheit und sklerosierende Encephalomyelitis. Arch. Psych.68, 217 (1923)
Sternberger, L. A.: Immunocytochemistry, New Jersey: Prentice-Hall 1974
Suzuki, Y., Tucker, S. H., Rorke, L. B. etal.: Ultrastructural and biochemical studies of Schilder's disease. J. Neuropath. Exp. Neurol.29, 404 (1970)
Terry R. D.: Electron microscopy of selected neurolipidoses. Handbook of clinical neurology (P. J. Vinken and G. W. Bruyn eds.), Bd. 10, 362–378. Amsterdam: North Holland 1970
Ulrich, J.: Die Entmarkungskrankheiten des Kindesalters. Berlin-Heidelberg-New York: Springer 1971
Ulrich, J., Isler, W.: Sudanophile Leukodystrophie bei Knaben und ihre Kombination mit Morbus Addison. Nervenarzt42, 378–382 (1971)
Zeman, W., Donahue, S., Dyken, P., Green, J.: The neuronal ceroid lipofuscinoses (Batten-Vogt syndrome). Handbook of clinical neurology, Bd. 10 (P. J. Vinken and G. W. Bruyen, eds.), 588–679. Amsterdam: North Holland 1970
Schaumburg, H. H., Richardson, E. P., Johnson, P. C., Cohen, R. B., Powers, J. M., Raine, C. S.: Schilder's disease: sex-linked transmission with specific adrenal changes. Arch. Neurol.27, 458–460 (1972)
Schaumburg, H. H., Powers, J. M., Raine, C. S. et al.: Adrenoleukodystrophy: A clinical and pathological study of cases. Arch. Neurol.33, 577 (1975)
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Ulrich, J., Herschkowitz, N., Heitz, P. et al. Adrenoleukodystrophy. Acta Neuropathol 43, 77–83 (1978). https://doi.org/10.1007/BF00685001
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DOI: https://doi.org/10.1007/BF00685001