ABSTRACT
Congenital cytomegalovirus infection is a cause of neonatal infection that can be asymptomatic; however, its complications are possible in some organs such as the nervous system and the liver. We report a case of a 2-month-old female infant with cytomegalovirus hepatitis characterized by abdominal distention, cholestasis, irritability, and poor breastfeeding. In the tests, liver involvement, periventricular microcalcifications, and sensorineural hearing loss were found. The diagnosis was determined by serum antibodies, confirmed with viral load in blood, urine, and liver tissue. Treatment with ganciclovir, vitamin K, and ursodeoxycholic acid was administered with adequate evolution. Cytomegalovirus hepatitis is a complication that may be associated with the involvement of other organs. Antiviral treatment for liver involvement is still controversial; however, it is recommended in children under one month of age if it is associated with neurological damage.
Subject(s)
Cytomegalovirus Infections , Hepatitis , Antiviral Agents/therapeutic use , Child , Cytomegalovirus , Cytomegalovirus Infections/complications , Cytomegalovirus Infections/diagnosis , Cytomegalovirus Infections/drug therapy , Female , Ganciclovir/therapeutic use , Humans , Infant , Infant, NewbornABSTRACT
La infección por citomegalovirus congénito es una causa de infección neonatal que puede cursar asintomático; sin embargo, es posible sus complicaciones en algunos órganos como el sistema nervioso y el hígado. Reportamos un caso de una lactante mujer de 2 meses, con hepatitis por citomegalovirus caracterizado por distensión abdominal, colestasis, irritabilidad y pobre lactancia. En los exámenes se evidenció compromiso hepático, microcalcificaciones periventriculares e hipoacusia neurosensorial. El diagnóstico se determinó mediante anticuerpos séricos, confirmado con carga viral en sangre, orina y en tejido hepático. Se administró tratamiento con ganciclovir, vitamina K y ácido ursodesoxicólico con adecuada evolución. La hepatitis por citomegalovirus es una complicación que puede estar asociado con el compromiso de otros órganos. El tratamiento antiviral para el compromiso hepático aún es controversial; sin embargo, está recomendado en menores de un mes si está asociado a daño neurológico.
Congenital cytomegalovirus infection is a cause of neonatal infection that can be asymptomatic; however, its complications are possible in some organs such as the nervous system and the liver. We report a case of a 2-month-old female infant with cytomegalovirus hepatitis characterized by abdominal distention, cholestasis, irritability, and poor breastfeeding. In the tests, liver involvement, periventricular microcalcifications, and sensorineural hearing loss were found. The diagnosis was determined by serum antibodies, confirmed with viral load in blood, urine, and liver tissue. Treatment with ganciclovir, vitamin K, and ursodeoxycholic acid was administered with adequate evolution. Cytomegalovirus hepatitis is a complication that may be associated with the involvement of other organs. Antiviral treatment for liver involvement is still controversial; however, it is recommended in children under one month of age if it is associated with neurological damage.
ABSTRACT
Activated PI3Kδ syndrome (APDS) Type I results from gain-of-function mutations in PIK3CD, which encodes the p110δ subunit of PI3Kδ. Abnormal actin dynamics have been hypothesized to contribute to the lymphopenia associated with this disease but have not been studied in patients with APDS. We report a patient with APDS who had widespread necrotic skin lesions that were responsive specifically to immunosuppressive therapy. EBV-transformed lymphoblastoid cells (EBV-LCLs) from patients with APDS exhibit increased polymerized actin and increased apoptosis, suggesting a contribution of impaired actin dynamics to this disease.
