RESUMO
Transposition of the great arteries with left ventricle outflow tract obstruction in combination with situs inversus totalis and dextrocardia is a very rare anomaly and carries high morbidity and mortality. Only few cases have been reported with this anomaly. We describe a 21-day of infant girl with transposition of the great arteries and mirror image dextrocardia and pulmonary stenosis who underwent successful neonatal arterial switch operation and left ventricle outflow tract obstruction resection following PDA stent implantation.
Assuntos
Transposição das Grandes Artérias , Dextrocardia , Situs Inversus , Transposição dos Grandes Vasos , Lactente , Recém-Nascido , Feminino , Humanos , Transposição dos Grandes Vasos/complicações , Transposição dos Grandes Vasos/cirurgia , Situs Inversus/complicações , Dextrocardia/complicações , ArtériasRESUMO
BACKGROUND: Malignant infantile osteopetrosis (MIOP) presents early in life with extreme sclerosis of the skeleton and reduction of bone marrow spaces. Since there is a defect in the bone marrow, the disease can cause anemia, extramedullary hematopoiesis secondary to anemia leading to hepatosplenomegaly, cranial nerves compression and severe growth failure. This disorder is often lethal within the first decade of life because of secondary infections. Stem cell transplantation (SCT) remains the only curative therapy. CASE PRESENTATION: We report a two-month old male infant, diagnosed as MIOP while investigating the cause of hepatosplenomegaly. The patient was referred for stem cell transplantation. CONCLUSION: Malignant infantile osteopetrosis should be kept in mind as a rare cause of hepatosplenomegaly and the patient should be referred for stem cell transplantation before neurologic or visual impairment develops.