RESUMO
We cared for a term female newborn, who at 108 hours of age, with a total serum bilirubin of 15.4 mg/dL, was discharged from the hospital on home phototherapy. At a return appointment 44 hours later, her total serum bilirubin was 41.7 mg/dL and signs of acute kernicterus were present. Maternal/fetal blood group O/B incompatibility was identified, with a negative direct antiglobulin test, which was positive on retesting. She had abundant spherocytes on blood smear, and these persisted at follow-up, but neither parent had spherocytes identified. A heterozygous SLC4A1(E508K) mutation (gene encoding erythrocyte membrane protein band 3) was found, and in silico predicted to result in damaged erythrocyte cytoskeletal protein function. No mutations were identified in other red cell cytoskeleton genes (ANK1, SPTA1, SPTB, EPB41, EPB42) and the UGT1A1 promoter region was normal. Neurologic follow-up at 2 and 4 months showed developmental delays consistent with mild kernicterus.
Assuntos
Antiporters/genética , Incompatibilidade de Grupos Sanguíneos/sangue , Incompatibilidade de Grupos Sanguíneos/genética , Análise Mutacional de DNA , Kernicterus/sangue , Kernicterus/genética , Sistema ABO de Grupos Sanguíneos/genética , Bilirrubina/sangue , Deficiências do Desenvolvimento/sangue , Deficiências do Desenvolvimento/genética , Feminino , Seguimentos , Triagem de Portadores Genéticos , Humanos , Recém-Nascido , Proteínas de Membrana/genética , Regiões Promotoras Genéticas/genética , Proteínas de Protozoários/genética , Esferocitose Hereditária/sangue , Esferocitose Hereditária/genéticaRESUMO
Children with Crigler-Najjar syndrome type I are at increased risk for neurologic deficits. Cerebellar symptoms are not prominent and appear in adolescent or adult patients with this syndrome. We report a 2-year-old female with Crigler-Najjar syndrome type I who presented severe cerebellar symptoms revealing bilirubin encephalopathy. The patient improved slowly with the duration of phototherapy. Cerebellar symptoms can be the initial manifestation of kernicterus in children with Crigler-Najjar syndrome type I.