RESUMO
Two patients who presented at birth with neonatal diabetes mellitus (NDM) are described: one with paternal uniparental disomy for chromosome 6 and one with normal, biparental inheritance. The first child presented with low birth weight, macroglossia, hypertelorism, and club foot in addition to NDM. In this patient hyperglycemia was transient, and insulin treatment was discontinued at 4 months of age. The second child also presented with low birth weight but was normal in appearance, and insulin dependence continues after 5 years. Genetic analysis with polymorphic DNA markers for chromosome 6 indicated the presence of paternal uniparental disomy (UPD) in the first case and normal, biparental inheritance in the second case. Paternal UPD 6 has been reported in 8 previous cases of which 6 showed NDM. Three cases with paternal UPD 6 also included additional anomalies, such as macroglossia, not usually associated with NDM. Therefore the simultaneous finding of NDM and macroglossia should be a strong indicator for genetic testing. The genetic finding of paternal UPD 6 allows prediction of a transient, rather than permanent, form of diabetes mellitus and no increased recurrence risk of transient NDM in subsequent pregnancies.
Assuntos
Aneuploidia , Cromossomos Humanos Par 6 , Diabetes Mellitus/genética , Diabetes Mellitus/tratamento farmacológico , Pai , Feminino , Testes Genéticos , Humanos , Recém-Nascido , Insulina/administração & dosagem , Masculino , Repetições de Microssatélites , Polimorfismo GenéticoRESUMO
One-hundred twenty-nine high-risk infants with thrombocytopenia and 238 control infants without thrombocytopenia were evaluated. Mothers of thrombocytopenic babies had similar history to those of nonthrombocytopenic babies, although fewer chronic narcotic abusers were found among mothers of thrombocytopenic babies. Thrombocytopenia was more common in babies less than 37 weeks' gestation and in sick babies compared to healthy babies. Sixty percent of infants had no recognizable cause of thrombocytopenia. Features associated with thrombocytopenia included umbilical line placement, respiratory assistance, hyperbilirubinemia, phototherapy, prematurity, respiratory distress syndrome, low Apgar score, sepsis, meconium aspiration, and necrotizing entercolitis. Thrombocytopenic babies had Apgar score, sepsis, meconium aspiration, and necrotizing entercolitis. Thrombocytopenic babies had more complications, more hemorrhage, and greater mortality than nonthrombocytopenic babies. Platelet size was increased in two babies with immune thrombocytopenia and in none of the others. This study shows that neonatal thrombocytopenia is often associated with high-risk factors and with increased hemorrhage, morbidity, and mortality. This relationship suggests an important prognostic value to platelet size was increased in two babies with immune thrombocytopenia and in none of the others. This study shows that neonatal thrombocytopenia is often associated with high-risk factors and with increased hemorrhage, morbidity, and mortality. This relationship suggests an important prognostic value to platelet counts, although the extent to which the thrombocytopenia contributed directly to morbidity and mortality is not clear.