Literature DB >> 7153060

Adrenal insufficiency, myopathic hypotonia, severe psychomotor retardation, failure to thrive, constipation and bladder ectasia in 2 brothers: adrenomyodystrophy.

W von Petrykowski, R Beckmann, N Böhm, U P Ketelsen, H H Ropers, M Sauer.   

Abstract

Two brothers are described who manifested primary adrenal insufficiency, dystrophic myopathy, severe psychomotor retardation, failure to thrive, fatty degeneration of the liver, megalocornea, chronic constipation, and terminal bladder ectasia until their death at 3 8/12 and 1 7/12 years, respectively. The differential diagnosis to similar syndromes is discussed. This combination of problems apparently has not yet been described. The term adrenomyodystrophy is suggested.

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Mesh:

Year:  1982        PMID: 7153060

Source DB:  PubMed          Journal:  Helv Paediatr Acta        ISSN: 0018-022X


  5 in total

1.  Infantile glycerol kinase deficiency--a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases.

Authors:  A Kohlschütter; H P Willig; D Schlamp; K Kruse; E R McCabe; H J Schäfer; G Beckenkamp; R Rohkamm
Journal:  Eur J Pediatr       Date:  1987-11       Impact factor: 3.183

Review 2.  Isolated and contiguous glycerol kinase gene disorders: a review.

Authors:  D R Sjarif; J K Ploos van Amstel; M Duran; F A Beemer; B T Poll-The
Journal:  J Inherit Metab Dis       Date:  2000-09       Impact factor: 4.982

3.  Congenital muscular dystrophy, brain malformation and ocular problems (muscle, eye and brain disease) in two German families.

Authors:  R Korinthenberg; D Palm; W Schlake; J Klein
Journal:  Eur J Pediatr       Date:  1984-04       Impact factor: 3.183

4.  Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.

Authors:  U Francke; J F Harper; B T Darras; J M Cowan; E R McCabe; A Kohlschütter; W K Seltzer; F Saito; J Goto; J P Harpey
Journal:  Am J Hum Genet       Date:  1987-03       Impact factor: 11.025

5.  Rare disease-based scientific annotation knowledge graph.

Authors:  Qian Zhu; Chunxu Qu; Ruizheng Liu; Gunjan Vatas; Andrew Clough; Ðắc-Trung Nguyễn; Eric Sid; Ewy Mathé; Yanji Xu
Journal:  Front Artif Intell       Date:  2022-08-11
  5 in total

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