Adrenal insufficiency,myopathic hypotonia,severe psychomotor retardation,failure to thrive,fatty liver, megalocornea,chronic constipation and terminal bladder ectasia in 2 brothers

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. ARTICLE PDF AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Childrens Hospita1, Dept. Pediatric Muscle Diseases, Institutes

of Pathology and of Human Genetics, University of Freiburg, West Germany W V Petrykowski, R Beckmann, N Böhm, U P Ketelsen, H H Ropers & M Sauer Authors * W V Petrykowski View author

publications You can also search for this author inPubMed Google Scholar * R Beckmann View author publications You can also search for this author inPubMed Google Scholar * N Böhm View

author publications You can also search for this author inPubMed Google Scholar * U P Ketelsen View author publications You can also search for this author inPubMed Google Scholar * H H

Ropers View author publications You can also search for this author inPubMed Google Scholar * M Sauer View author publications You can also search for this author inPubMed Google Scholar

RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE 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 Download citation * Issue Date: 01 October 1979 * DOI: https://doi.org/10.1203/00006450-197910000-00090 SHARE THIS ARTICLE Anyone you share

the following link with will be able to read this content: Get shareable link Sorry, a shareable link is not currently available for this article. Copy to clipboard Provided by the Springer

Nature SharedIt content-sharing initiative