RESUMO
Respiratory Syncytial Virus (RSV is the most common cause of respiratory infections in infants, causing bronchiolitis and pneumonia. Premature infants have an increased risk for developing severe illness and even death. A monoclonal antibody vaccination named Palivizumab is available for preventing RSV infection. We describe an outbreak and control of RSV infections in one of our neonatal intensive care units, involving three patients and two medical team members.
Assuntos
Surtos de Doenças/prevenção & controle , Unidades de Terapia Intensiva Neonatal , Infecções por Vírus Respiratório Sincicial/prevenção & controle , Humanos , Masculino , Palivizumab/administração & dosagem , Equipe de Assistência ao Paciente , Infecções por Vírus Respiratório Sincicial/epidemiologiaRESUMO
Transaldolase (TALDO) deficiency has various clinical manifestations including liver dysfunction, hepatosplenomegaly, anemia, thrombocytopenia, and dysmorphic features. We report a case presenting prenatally with hyperechogenic bowel and intrauterine growth restriction. The infant was born small for gestational age, with cutis laxa and hypertrichosis. Postnatally, meconium plug was identified, complicated with intestinal obstruction necessitating laparotomy, partial resection of the intestine, and ileostomy. Liver biopsy revealed cholangiolar proliferation and portal fibrosis. He also suffered from persistent congenital thrombocytopenia requiring platelet transfusions and severe hypothyroidism with normal anatomical and structural gland responding only to the combination of T3 and T4 treatment. Neurologically, severe hypotonia and anisocoria were noted at the age of 2 months. Brain MRI was normal. Shortly after the abdominal surgery, a rapid liver failure ensued, which eventually led to his death. Specific metabolic tests ruled out glycosylation disorders, yet urine analysis using 1H NMR showed accumulation of sedoheptulose which was previously described in patients with transaldolase deficiency. Sequencing of the gene-encoding transaldolase (TALDO1) revealed a homozygous stop mutation c.669C>G; p.Tyr223*. In conclusion, we present an infant with a novel homozygous mutation in TALDO1, causing TALDO deficiency, and extend the clinical characteristics of this rare syndrome.