Abstract
The above problems were observed in 2 of 5 siblings from early infancy until death at ages 3.25 and 1.6 years.Both were the product of uneventful pregnancies and had normal weight at term.First admissions were at 3 resp.9 weeks of age because of severe emaciation with hyponatremia and hyperkalemia.Adrenal insufficiency developed gradually during the first year of life,as documented with insulin-and Synacthentests.Neither child learned to sit and both were markedly autistic.Failure to thrive could only partially be improved by cortisol substitution.Floppiness was a leading symptom throughout.Muscle enzyme activities were strongly elevated.Electromyography showed a myopathic pattern.Muscle-biopsy revealed dystrophic changes in light-and electron-microscopy.Progressive bladder ectasia(1000 ml) finally appeared.At autopsy brain and spinal cord findings were normal,lipid analysis however suggested demyelinisation.No similar cases could be found in the literature.
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Petrykowski, W., Beckmann, R., Böhm, N. et al. Adrenal insufficiency,myopathic hypotonia,severe psychomotor retardation,failure to thrive,fatty liver, megalocornea,chronic constipation and terminal bladder ectasia in 2 brothers. Pediatr Res 13, 1195 (1979). https://doi.org/10.1203/00006450-197910000-00090
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DOI: https://doi.org/10.1203/00006450-197910000-00090