ABSTRACT
Neonatal Marfan syndrome is a severe form of the syndrome mostly caused by de-novo mutations in the fibrillin-1 gene. We report a newborn with neonatal Marfan syndrome and functional pulmonary atresia who died from congestive heart failure on postnatal day 22 despite treatment. He had a mutation in exon 29 of the fibrillin-1 gene at position c.3602G>A. Functional pulmonary atresia may be a life-threatening cardiovascular manifestation of neonatal Marfan syndrome.
Subject(s)
Marfan Syndrome/genetics , Microfilament Proteins/genetics , Mutation, Missense , Pulmonary Atresia/complications , Fatal Outcome , Fibrillin-1 , Fibrillins , Heart/physiopathology , Heart Failure/etiology , Heart Failure/physiopathology , Humans , Infant, Newborn , Male , Marfan Syndrome/complications , Marfan Syndrome/pathology , Pulmonary Atresia/physiopathologyABSTRACT
Invasive fungal infection is one of the major causes of morbidity and mortality in immunocompromised patients. The occurrence of two invasive fungal infections in one patient at the same time is quite rare. Here the authors report on two adolescent patients with acute lymphoblastic leukemia who developed combined invasive pulmonary aspergillosis and hepatosplenic candidiasis during chemotherapy. They were treated with liposomal amphotericin B, but one of them died due to massive pulmonary hemorrhage during recovery from neutropenia.
Subject(s)
Aspergillosis/etiology , Candidiasis/etiology , Liver Diseases/etiology , Lung Diseases, Fungal/etiology , Precursor Cell Lymphoblastic Leukemia-Lymphoma/complications , Splenic Diseases/etiology , Typhlitis/etiology , Adolescent , Amphotericin B/administration & dosage , Antifungal Agents/administration & dosage , Aspergillosis/diagnostic imaging , Aspergillosis/drug therapy , Aspergillosis/microbiology , Candidiasis/diagnostic imaging , Candidiasis/drug therapy , Candidiasis/microbiology , Candidiasis/pathology , Fatal Outcome , Humans , Immunocompromised Host , Liver Diseases/diagnostic imaging , Liver Diseases/drug therapy , Liver Diseases/microbiology , Lung Diseases, Fungal/diagnostic imaging , Lung Diseases, Fungal/drug therapy , Lung Diseases, Fungal/microbiology , Male , Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnostic imaging , Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy , Precursor Cell Lymphoblastic Leukemia-Lymphoma/microbiology , Radiography , Splenic Diseases/diagnostic imaging , Splenic Diseases/drug therapy , Splenic Diseases/microbiology , Typhlitis/diagnostic imaging , Typhlitis/drug therapyABSTRACT
Transient myeloproliferative disorder is a self limiting disorder characterized by leukocytosis with the presence of megakaryoblasts in the peripheral blood and bone marrow, anemia, thrombocytopenia, and organomegaly. It occurs in approximately 10% of newborn infants with Down syndrome. Hepatic fibrosis is seen in the severe form of transient myeloproliferative disorder with Down syndrome that is characterized by diffuse intralobular sinusoidal fibrosis and extramedullary hematopoesis. We describe a patient with hydrops fetalis, Down syndrome, and transient myeloproliferative disorder. We suggest that patients with the severe form of transient myeloproliferative disorder should be examined for hepatic fibrosis.
Subject(s)
Down Syndrome/complications , Hydrops Fetalis/etiology , Liver Cirrhosis/etiology , Myeloproliferative Disorders/complications , Down Syndrome/physiopathology , Fatal Outcome , Humans , Hydrops Fetalis/physiopathology , Infant, Newborn , Infant, Premature , Liver Cirrhosis/pathology , Liver Cirrhosis/physiopathology , Male , Myeloproliferative Disorders/physiopathologyABSTRACT
PURPOSE: To evaluate the risk factors in the development of mild and severe retinopathy of prematurity (ROP). METHODS: All infants (n = 88) screened for ROP at a neonatal intensive care unit over a 2-year period with gestational age Subject(s)
Birth Weight
, Respiratory Distress Syndrome, Newborn/complications
, Retinopathy of Prematurity/etiology
, Disease Progression
, Gestational Age
, Humans
, Infant, Newborn
, Logistic Models
, Retinopathy of Prematurity/diagnosis
, Retrospective Studies
, Risk Factors
