RESUMEN
Phenylketonuria is a metabolic disease caused by phenylalanine hydroxylase deficiency. Treatment is based on a strict natural protein-restricted diet that is associated with the risk of malnutrition and severe psychosocial burden. Oral administration of tetrahydrobiopterin can increase residual enzyme activity, but most patients with severe clinical phenotypes are nonresponders. We performed liver cell transplantation in a 6-year-old boy with severe tetrahydrobiopterin nonresponsive phenylketonuria who failed to comply with diet prescriptions. The transplanted hepatocytes were obtained in part from an explanted glycogen storage type 1b liver. Following two infusions, blood phenylalanine levels returned within the therapeutic target while the phenylalanine half-life assessed by loading tests decreased from 43 to 19 h. However, 3 months later, blood phenylalanine concentrations increased and the phenylalanine intake had to be reduced. Cell-based therapy is a promising therapeutic option in phenylketonuria, and the domino concept may solve the issue of cell sources for hepatocyte transplantation.
Asunto(s)
Hepatocitos/trasplante , Fenilcetonurias/terapia , Tratamiento Basado en Trasplante de Células y Tejidos , Niño , Femenino , Enfermedad del Almacenamiento de Glucógeno Tipo I/terapia , Semivida , Hepatocitos/citología , Humanos , Lactante , Pruebas de Función Hepática , Masculino , Fenilalanina/sangre , Fenilalanina Hidroxilasa/genética , Fenilalanina Hidroxilasa/metabolismo , Fenilcetonurias/diagnósticoAsunto(s)
Articulación Atlantoaxoidea/cirugía , Síndrome de Down/complicaciones , Inestabilidad de la Articulación/diagnóstico , Apófisis Odontoides/cirugía , Enfermedades de la Columna Vertebral/diagnóstico , Articulación Atlantoaxoidea/diagnóstico por imagen , Articulación Atlantoaxoidea/patología , Tornillos Óseos , Niño , Descompresión Quirúrgica/métodos , Femenino , Humanos , Inestabilidad de la Articulación/etiología , Inestabilidad de la Articulación/cirugía , Imagen por Resonancia Magnética , Apófisis Odontoides/diagnóstico por imagen , Apófisis Odontoides/patología , Compresión de la Médula Espinal/diagnóstico , Compresión de la Médula Espinal/etiología , Compresión de la Médula Espinal/cirugía , Enfermedades de la Columna Vertebral/etiología , Enfermedades de la Columna Vertebral/cirugía , Tomografía Computarizada por Rayos XRESUMEN
BACKGROUND: Pulmonary hypoplasia is a rare cause of neonatal dyspnea almost always secondary to other conditions. We report an exceedingly rare case of primary unilateral pulmonary hypoplasia. RESULTS AND DISCUSSION: This case illustrates the role of prenatal magnetic resonance imaging when this condition is suspected during the fetal life. Combined with ultrasounds, this imaging modality offers a three-dimensional evaluation of the lungs that can be critical for postnatal medical management.
Asunto(s)
Pulmón/anomalías , Síndrome de Dificultad Respiratoria del Recién Nacido/diagnóstico , Síndrome de Dificultad Respiratoria del Recién Nacido/etiología , Femenino , Humanos , Recién Nacido , Pulmón/cirugía , Imagen por Resonancia Magnética , Embarazo , Diagnóstico Prenatal , Síndrome de Dificultad Respiratoria del Recién Nacido/cirugíaRESUMEN
Internal hernia is an uncommon cause of intestinal obstruction producing only 1% of all acute small bowel obstructions. Hernias involving a defect of the broad ligament of the uterus are particularly uncommon. We report a case successfully diagnosed by spiral CT with multiaxial reconstruction.
Asunto(s)
Enfermedades de los Anexos/diagnóstico por imagen , Ligamento Ancho/diagnóstico por imagen , Tomografía Computarizada por Rayos X/métodos , Enfermedades de los Anexos/complicaciones , Femenino , Hernia/complicaciones , Hernia/diagnóstico por imagen , Humanos , Enfermedades del Íleon/etiología , Procesamiento de Imagen Asistido por Computador/métodos , Obstrucción Intestinal/etiología , Persona de Mediana EdadRESUMEN
The authors report a compressive cystic lesion of the central lumbar retrodural space, which was related to a bilateral L5 spondylolysis. Correlation is made with the contralateral opacification of the facet joints sometimes observed during contrast injection of these joints. Pathways and possible causes are discussed.