Childhood Variegate Porphyria in Argentina: Other two new cases in heterozygosis

MELITO VA; CERBINO GABRIELA; BÁRBARA X GRANATA; CABALLERO FA; BATLLE A; PARERA VE; ROSSETTI MV

Dusseldorf

Congreso; INTERNACIONAL CONFERENCE ON PORPHYRINS AND PORPHYRIAS 2015; 2015

Porphyria Foundation

A deficiency in Protoporphyrinogen Oxidase, yields the mixed variegate porphyria (VP), the third more frequent in Argentina. This autosomal dominant disorder with incomplete penetrance is clinically characterized by skin lesions and/or acute attacks. The precise diagnosis of overt VP is essential to provide their right treatment. It is also critical its early identification to prevent acute attacks. VP, clinically manifests very rarely in children, so far 14 cases have been described, 12 in homozygosis and 2 in heterozygous compound form, besides only one case in heterozygosis diagnosed in our Center. Our aim was to study a girl, 20 months old, with cutaneous manifestations (P1) and a boy, 10 years old, with acute symptoms (P2), both since birth, to reach the exact diagnosis and detect the VP responsible mutation, to perform the presymptomatic studies in their families. In P1, ALA,PBG and total urinary porphyrins (TUP) were normal. Total fecal porphyrins, TFP=247µg/dw (NV≤130 µg/dw) with its typical pattern and its PPI=7.93 at 627nm, confirmed the diagnosis of VP. A new mutation C