Adrenomyodystrophy
| Classification according to ICD-10 | |
|---|---|
| G71.2 | Congenital myopathies |
| ICD-10 online (WHO version 2019) | |
The Adrenomyodystrophie is an extremely rare inherited disorder with congenital muscular dystrophy , disorder of adrenal cortex , liver , cornea , of the nervous system , the gastrointestinal tract and the urinary bladder .
So far, only two children have been described by the Freiburg pediatrician Wolfgang von Petrykowsky and his colleagues in 1979 .
Clinical manifestations
Clinical criteria are:
- Manifestation in infancy
- Primary adrenal insufficiency with hyperpigmentation
- Muscular dystrophy
- Psychomotor retardation
- Chronic failure to thrive
- Fatty liver
- Megalocornea
- Chronic constipation
Differential diagnosis
The following are to be distinguished:
- Congenital adrenal hyperplasia
- Myotonic dystrophy type 1 and myotonic dystrophy type 2
- Zellweger Syndrome
- Spinal muscular atrophy Werdnig-Hoffmann type
- Adrenoleucodystrophy
- Glycerol kinase deficiency
Prospect of healing
The children described died within a few years.
Individual evidence
- ↑ a b c Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ W. von Petrykowski, R. Beckmann, N. Böhm, UP Ketelsen, HH Ropers, M. Sauer: Adrenal insufficiency, myopathic hypotonia, severe psychomotor retardation, failure to thrive, constipation and bladder ectasia in 2 brothers: adrenomyodystrophy. In: Helvetica paediatrica acta. Vol. 37, No. 4, September 1982, ISSN 0018-022X , pp. 387-400, PMID 7153060 .
Web links
- Adrenomyodystrophy. In: Orphanet (Rare Disease Database).
- Adrenomyodystrophy. In: Online Mendelian Inheritance in Man . (English)
