Abstract
An ACTH stimulation test was performed in six patients suffering from the cerebro-hepato-renal syndrome of Zellweger. In contrast to controls, no rise in cortisol was observed. None of these patients showed clinical symptoms of adrenal insufficiency. The sudden death, which occurs in this syndrome, can probably be explained by an impaired stress reaction. In stress situations, such as respiratory infection, corticosteroids should be administered to these patients.
A striking resemblance exists between the Zwellweger syndrome and the neonatal form of adrenoleukodystrophy.
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Abbreviations
- CHR-S:
-
cerebro-hepato-renal syndrome
- ALD:
-
adrenoleukodystrophy
References
Agamanolis D, Robinson H, Timmons S (1976) Cerebro-hepatorenal syndrome, report of a case with histochemical and ultrastructural observations. J Neuropath Exp Neurol 35:226–246
Bakkeren J, Monnens L, Trijbels J, Maas J (1984) Serum very long chain fatty acid pattern in Zellweger syndrome. Clin Chim Acta 138:325–331
Bertrand J, Rappaport R, Sizonenko P (1982) Endocrinologie pédiatrique, physiologie, physiopathologie, clinique. Payot Lausanne edn. Paris, pp 690–691
Benke P, Reyes P, Parker J (1981) New form of adrenoleuko-dystrophy. Hum Genet 58:204–208
Bowen P, Lee C, Zellweger H, Lindenberg R (1964) A familial syndrome of multiple congenital defects. Bull John Hopkins Hosp 114:402–414
Brown F III, McAdams A, Cummins J, Konkol R, Singh I, Moser A, Moser H (1982) Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids. John Hopkins Med J 151:344–361
Cohen S, Brown F III, Martyn L, Moser H, Chen W, Kistenmacher M, Punnett H, Grover W, de la Cruz Z, Chan N, Green W (1983) Ocular histopathologic and biochemical studies of the cerebrohepatorenal syndrome (Zellweger's syndrome) and its relationship to neonatal adrenoleukodystrophy. Am J Ophthal mol 96:488–501
Goldfischer S (1979) Peroxisomes in disease. J Histochem Cytochem 27:1371–1373
Goldfischer S, Moore C, Johnson A, Spiro A, Valsamis M, Wisniewski H, Ritch R, Norton W, Rapin I, Gartner L (1973) Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome. Science 182:62–64
Goldfischer S, Powers J, Johnson A, Axe S, Brown F, Moser H (1983) Striated adrenocortical cells in cerebro-hepato-renal (Zellweger) syndrome. Virchows Arch (Pathol Anat) 401:355–361
Govaerts L, Monnens L, Tegelaers W, Trijbels J, van Raay-Selten A (1982) Cerebro-hepato-renal syndrome of Zellweger: clinical symptoms and relevant laboratory findings in 16 patients. Eur J Pediatr 139:125–128
Heymans H, Schutgens R, Tan R, van den Bosch H, Borst P (1983) Severe plasmologen deficiency in tissues of infants without peroxisomes (Zellweger syndrome). Nature 306:69–70
Kelley R (1983) Review: The cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects. Am J Med Gen 16:503–517
Knazek R, Rizzo W, Schulman J, Dave J (1983) Membrane microviscosity is increased in the erythrocytes of patients with adrenoleukodystrophy and adrenomyeloneuropathy. J Clin Invest 72:245–248
Molzer B, Bernheimer H, Heller R, Toifl K, Vetterlien M (1982) Detection of adrenoleukodystrophy by increased C26:0 fatty acid levels in leukocytes. Clin Chim Acta 125:299–305
Moser H, Moser A, Kawamura N, Murphy J, Suzuki K, Schaumburg H, Kishimoto Y (1980) Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts. Ann Neurol 7:542–549
Moser H, Moser A, Frayer K, Chen W, Schulman J, O'Neill B, Kishimoto Y (1981) Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids. Neurology 31:1241–1249
Moser H, Moser A, Powers J, Nitowsky H, Schaumburg H, Norum R, Migeon B (1982) The prenatal diagnosis of adrenoleukodystrophy. Demonstration of increased hexacosanoic acid levels in cultured amniocytes and fetal adrenal gland. Pediatr Res 16:172–175
Partin J, McAdams A (1983) Absence of hepatic peroxisomes in neonatal onset adrenoleukodystrophy. Pediatr Res 17:294A
Powers J, Schaumburg H, Johnson A, Raine C (1980) A correlative study of the adrenal cortex in adrenoleukodystrophy —evidence for a fatal intoxication with very long chain saturated fatty acids. Invest Cell Pathol 3:353–376
Russo J, Black V (1982) Hormone-dependent changes in peroxisomal enzyme activity in guinea pig adrenal. J Biol Chem 257:3883–3889
Schaumburg H, Powers J, Raine C, Suzuki K, Richardson E (1975) Adrenoleukodystrophy. A clinical and pathological study in 17 cases. Arch Neurol 32:577–591
Singh I, Moser H, Moser A, Kishimoto Y (1981) Adrenoleukodystrophy: impaired oxidation of long chain fatty acids in cultured fibroblasts and adrenal cortex. Biochem Biophys Res Commun 102:1223–1229
Trijbels J, Berden J, Monnens L, Willems J, Janssen A, Schutgens R, van den Broek-van Essen M (1983) Biochemical studies in the liver and muscle of patients with Zellweger syndrome. Pediatr Res 17:514–517
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Govaerts, L., Monnens, L., Melis, T. et al. Disturbed adrenocortical function in cerebro-hepato-renal syndrome of Zellweger. Eur J Pediatr 143, 10–12 (1984). https://doi.org/10.1007/BF00442740
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DOI: https://doi.org/10.1007/BF00442740