ea0037ep824 | Pituitary: clinical | ECE2015
Braha Elena
, Armasu Ioana
, Rusu Cristina
, Raileanu Daniela
, Manolachie Adina
, Constantinescu Georgiana
, Puiu Mirela
, Stefan Roxana
, Vulpoi Carmen
Introduction: Mucolipidoses II/III (ML) are rare autosomal recessive lysosomal storage disorders (incidence: 1/325 000 live births). They have overlapping clinical phenotypes with mucopolysaccharidosis disorders and include growth retardation, facial dysmorphism, skeletal abnormalities, respiratory and heart diseases, hepatosplenomegaly and abdominal hernias. There is no specific treatment and the management has been limited to supportive care.Case prese...