4 documents found, page 1 of 1
TANGO2 Deficiency Disorder: Two Cases of Developmental Delay Preceding Metaboli...
Dias, JV; Carvalho, AA; Freixo, JP; Antunes, D; Martins, AA; Painho, T; Jacinto, SBackground: TANGO2 deficiency disorder is a rare genetic disease caused by biallelic defects in TANGO2 gene. Methods: We report the clinical phenotype of two children with TANGO2 deficiency disorder. Results: Patient 1 is a female child presenting with developmental delay and microcephaly during the second year of life, who evolved with severe cognitive impairment, facial dysmorphisms, spastic paraparesis, and ...
Unusual Presentation in Cow’s Milk Protein Allergy
Carvalho, AA; Faustino, J; Bota, S; Ferreira, ST
Spontaneous Neonatal Humeral Artery Thromboembolism: a Case Report
Faustino, J; Carvalho, AA; Ferreira, ST; Kjöllerström, P
Congenital Cytomegalovirus Infection in Twin Pregnancy
Carvalho, AA; Silva, CB; Martins, ML; Cassiano Santos, GCassianoCytomegalovirus (CMV) infection is one of the preeminent congenital viral infections, and despite its potential morbidity, uncertainty about its physiopathology, prevention and treatment remains until now. We report a case of a dichorionic and diamniotic twin pregnancy in which only one of the fetus had signs of being affected. The first twin had prenatal diagnosis of intrauterine growth restriction and hyperec...