Adrenal insufficiency, myopathic hypotonia, severe psychomotor retardation, failure to thrive, constipation and bladder ectasia in 2 brothers: adrenomyodystrophy.
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.
D000309:Adrenal Insufficiency / Q000150:complications*; D002675:Child, Preschool; D003248:Constipation / Q000150:complications*; D004108:Dilatation, Pathologic; D006130:Growth Disorders / Q000150:complications*; D006801:Humans; D007223:Infant; D008297:Male; D008854:Microscopy, Electron; D009123:Muscle Hypotonia / Q000150:complications*; D009132:Muscles / Q000648:ultrastructure; D011596:Psychomotor Disorders / Q000150:complications*; D013577:Syndrome; D001745:Urinary Bladder Diseases / Q000150:complications*