[ albers shomberg syndrome. About 21 cases]

ABSTRACT

The authors report a retrospective survey concerning 21 cases of the Albers Shomberg syndrome. It is a rare hereditary disease which heterogeneous inheritance but autosomal dominant transmission seems to be most frequent. The average age of patients is of eight and a half [8.5] months, with a masculine prevalence. Circonstances of discovery have been marked by pallor, by megalo-spleno-hepathy [60 %] and by bronchial pneumopathy [35 %]. Under examination, have been noted the following o ponderal statural delay, in 65 % of cases; o pallor, in 100% of cases o enlarged liver, in 65 % of cases o enlarged spleen, in 85 % of cases. Treatment is symptomatic, based on polytransfusions. Development is unfavourable, with only four [4] survival cases