Familial incidence of juvenile diabetes mellitus and primary optic atrophy
Vormittag, W.; Schwab, F.; Ferlitsch, A.
Wiener Klinische Wochenschrift 90(13): 445-448
1978
ISSN/ISBN: 0043-5325 PMID: 664711 Document Number: 127927
The syndrome of juvenile diabetes mellitus, primary optic atrophy and hydronephrosis, hydroureter and megacystis was observed in two brothers. One patient showed consistent elevation of the plasma creatine phosphokinase activity (isoenzymes MM 71%, MB 29%), without any sign of myocardial or skeletal muscle disease. This rare syndrome is inherited in an autosomal recessive manner. It has not yet been reported in Austria, to our knowledge.