hrp0089p2-p285 | Multisystem Endocrine Disorders P2 | ESPE2018
Wechsung Katja
, Lankes Erwin
, Kuhnen Peter
, Stackelberg Arend von
, Schnabel Dirk
Background: A somatic activating GNAS mutation leads to the triad of café au lait macules, fibrous dysplasia and precocious puberty known as Mc Cune Albright Syndrome (MAS). We present a patient with bone marrow failure as a rare non-endocrine complication of MAS.Clinical case: A 2-year-old girl with neonatal giant cell hepatitis, a large right sided café au lait spot and fibrous dysplasia was diagnosed with MAS. The severe polyostotoc fibrous ...