ABSTRACT
Objetivo: descrever caso raro de concomitância de síndrome de Beckwith-Wiedemann e deficiência de cobalamina C. Relato: menina, 4 anos, 19,5kg, 1,17m. Nasceu de cesariana, com 39+5 semanas e 3660g. Diagnosticada onfalocele intra-útero, corrigida no período neonatal. Realizada detecção genética neonatal de síndrome de Beckwith-Wiedemann. Com 2 meses, apresentou crises de ausência, eletroencefalograma anormal e ressonância evidenciando coleções subdurais crônicas e diminuição de substância branca. Apresentou hiper-homocisteinemia e aumento de ácido metilmalônico, confirmando deficiência de cobalamina C. Com 6 meses, crises convulsivas mudaram de padrão, apresentou acidose metabólica e hemorragias retinianas. Com 2 anos, diagnosticado autismo. Apresenta tônus central diminuído, tônus periférico normal, déficit neuropsicomotor, deficiência visual, nistagmo, microcefalia leve, macroglossia e crescimento excessivo. Em uso de hidroxicobalamina, betaína e ácido fólico. Conclusão: relatamos a concomitância de condições raras, sendo as complicações mais graves os déficits visuais e neuropsicomotores pela deficiência de cobalamina C
Objective: To describe a case of a patient presenting concomitantly with Beckwith-Wiedemann syndrome and cobalamin C deficiency. Report: Girl, 4 years old, 19.5kg, 1.17m. Born from cesarean section, with 39+5 weeks of gestation and weighing 3,660g. Diagnosed intra-uterus with omphalocele, which was repaired in the neonatal period. Neonatal Beckwith-Wiedemann syndrome detection was performed by genetic testing. With 2 months of age, she presented absence seizures, with abnormal electroencephalogram and MRI, evidencing chronic subdural collections and white matter decrease. She presented hyperhomocysteinemia and increased methylmalonic acid, with a subsequent diagnosis of cobalamin C deficiency. At 6 months of age, her seizures changed pattern, she presented metabolic acidosis and superficial retinal haemorrhages. At 2 years of age, she was diagnosed with autism. She presents reduced central tone, normal peripheral tonus, preserved reflexes, neuropsychomotor deficit, visual deficiency, nystagmus, mild microcephaly, macroglossia and excessive growth. In use of hydroxocobalamin, betaine and folic acid. Conclusion: in the case presented, rare conditions occurred concomitantly, with the most severe complications including visual and neuropsychomotor deficits, due to cobalamin C deficiency