RESUMEN
Noonan syndrome-related myeloproliferative disorder (NS/MPD) and juvenile myelomonocytic leukemia (JMML) are rare MPDs that occur in young children. We herein report a case of NS/MPD with neonatal onset. The patient had a characteristic appearance and high monocyte count in the peripheral blood and bone marrow. Genetic testing showed the E139D mutation in PTPN11 ; however, the patient did not meet all the diagnostic criteria for JMML, and we thus diagnosed him with NS/MPD. Eight other cases of NS/MPD with neonatal onset are also summarized. The initial presentation varied, and the prognosis was considered poor compared with previous reports of NS/MPD.
Asunto(s)
Leucemia Mielomonocítica Juvenil , Trastornos Mieloproliferativos , Síndrome de Noonan , Humanos , Recién Nacido , Masculino , Leucemia Mielomonocítica Juvenil/complicaciones , Leucemia Mielomonocítica Juvenil/diagnóstico , Leucemia Mielomonocítica Juvenil/genética , Mutación , Trastornos Mieloproliferativos/complicaciones , Trastornos Mieloproliferativos/genética , Síndrome de Noonan/complicaciones , Síndrome de Noonan/genética , Proteína Tirosina Fosfatasa no Receptora Tipo 11/genéticaRESUMEN
We describe the case of a 15-year-old boy with a history of Fontan operation and multiple intrahepatic tumors. Computed tomography showed multiple hepatic nodules with arterial enhancement. Because hepatocellular carcinoma (HCC) was not detected on biopsies and tumor markers were normal, progress was monitored on imaging. One hepatic tumor increased greatly in size during follow up. At 15 years of age, tumor markers rose rapidly, and he had upper abdominal swelling. Therefore, transarterial embolization (TAE) was performed for the largest tumor, suspected to be a HCC due to cardiac cirrhosis. This tumor had not increased at follow up 4 months later. The patient died from hepatic failure at the age of 17 years, and HCC was diagnosed at autopsy. Although pediatric HCC is rare, its incidence is likely to increase. TAE, with or without anticancer agents, is a therapeutic option for unresectable pediatric HCC, as it is for adult HCC.
Asunto(s)
Carcinoma Hepatocelular/terapia , Embolización Terapéutica/métodos , Cirrosis Hepática/terapia , Neoplasias Hepáticas/terapia , Adolescente , Angiografía de Substracción Digital , Biomarcadores de Tumor , Carcinoma Hepatocelular/diagnóstico por imagen , Carcinoma Hepatocelular/patología , Resultado Fatal , Humanos , Cirrosis Hepática/diagnóstico por imagen , Cirrosis Hepática/patología , Neoplasias Hepáticas/diagnóstico por imagen , Neoplasias Hepáticas/patología , Masculino , Tomografía Computarizada por Rayos XRESUMEN
Epidural hematoma (EDH) in newborn infants is rare compared with other types of intracranial hemorrhages. Furthermore, posterior fossa EDH is extremely rare. We present a case of posterior fossa EDH in an infant with Menkes disease with accessory bones in the occiput. A male infant with a condition diagnosed with Menkes disease by prenatal testing was born at 39 weeks via vacuum extraction. The patient presented with a mild tremor at 2 days after delivery. A brain computed tomography (CT) scan showed an acute EDH in the posterior fossa, extending into the occipitoparietal area. Three-dimensional CT and bone window CT scan revealed several accessory bones, diastasis of 1 accessory suture, a communicated fracture, and a linear fracture in the occipital bone. Furthermore, a bone fragment from a communicated fracture displaced toward the inside. The patient was treated conservatively for EDH because of his good general condition. The hematoma gradually resolved, and his tremor did not recur. We suggest the following mechanism of posterior fossa EDH development in our patient: (1) external force was applied to the occiput inside the birth canal during delivery, resulting in diastasis; (2) a communicated fracture occurred, and a bone fragment displaced toward the inside (linear fracture was caused indirectly by the force); (3) a transverse sinus was injured by the fragment; and (4) EDH developed in both the posterior fossa and supratentorial region. Copper deficiency can also cause fragility of connective tissues, vessels, and bones.
Asunto(s)
Hematoma Epidural Craneal/etiología , Síndrome del Pelo Ensortijado/complicaciones , Cesárea/efectos adversos , Humanos , Recién Nacido , MasculinoAsunto(s)
Enfermedades del Desarrollo Óseo/genética , Anomalías Craneofaciales/genética , ADN/genética , Hiperostosis/genética , Hipertelorismo/genética , Mosaicismo , Mutación , Proteínas de Transporte de Fosfato/genética , Enfermedades del Desarrollo Óseo/metabolismo , Anomalías Craneofaciales/metabolismo , Femenino , Humanos , Hiperostosis/metabolismo , Hipertelorismo/metabolismo , Lactante , Linaje , Proteínas de Transporte de Fosfato/metabolismoRESUMEN
A neonate with herpes simplex virus 1 encephalitis was treated with intravenous acyclovir. During the course of therapy, the infection became intractable to the treatment and a mutation in the viral thymidine kinase gene (nucleotide G375T, amino acid Q125H) developed. This mutation was demonstrated in vitro to confer acyclovir resistance.
Asunto(s)
Aciclovir/farmacología , Antivirales/farmacología , Farmacorresistencia Viral , Encefalitis por Herpes Simple/diagnóstico , Herpes Simple/diagnóstico , Herpesvirus Humano 1/aislamiento & purificación , Complicaciones Infecciosas del Embarazo/diagnóstico , Aciclovir/uso terapéutico , Sustitución de Aminoácidos , Antivirales/uso terapéutico , ADN Viral/química , ADN Viral/genética , Encefalitis por Herpes Simple/virología , Herpes Simple/virología , Herpesvirus Humano 1/efectos de los fármacos , Herpesvirus Humano 1/genética , Humanos , Recién Nacido , Masculino , Pruebas de Sensibilidad Microbiana , Datos de Secuencia Molecular , Mutación Missense , Complicaciones Infecciosas del Embarazo/virología , Análisis de Secuencia de ADN , Timidina Quinasa/genéticaRESUMEN
Although mutations in the RASA1 gene in vein of Galen aneurysmal malformation (VGAM) and an endoglin gene mutation in a VGAM patient with a family history of hereditary hemorrhagic telangiectasia (HHT) have been identified, most VGAM cases have no mutation in these genes. We sought to detect mutations in other genes related to HHT. We screened for mutations in RASA1 and three genes (endoglin, activin receptor-like kinase 1 (ACVRL1), encoding ALK1, and SMAD4) related to HHT in four VGAM patients. One variant (c.652 C>T p.R218W) in ACVRL1 was identified. Immunoblotting revealed that the ALK1-R218W protein could not promote SMAD1/5/8 phosphorylation by BMP9 stimulation. On the other hand, wild-type ALK1 could enhance the phosphorylation as expected. Furthermore, the transcriptional activation of ALK1-R218W was less efficient than that of wild-type ALK1. We identified 1 variant in ACVRL1 in a VGAM patient. These findings suggest that the ACVRL1 variant-R218W may be associated with the pathogenesis of VGAM.
Asunto(s)
Absceso Encefálico/microbiología , Líquido Cefalorraquídeo/microbiología , Infecciones Estreptocócicas/microbiología , Streptococcus/aislamiento & purificación , Antibacterianos/uso terapéutico , Absceso Encefálico/líquido cefalorraquídeo , Absceso Encefálico/diagnóstico por imagen , Absceso Encefálico/tratamiento farmacológico , Niño , ADN Bacteriano/análisis , Humanos , Imagen por Resonancia Magnética , Masculino , Reacción en Cadena de la Polimerasa , Radiografía , Infecciones Estreptocócicas/líquido cefalorraquídeo , Infecciones Estreptocócicas/tratamiento farmacológico , Infecciones Estreptocócicas/genética , Streptococcus/clasificación , Streptococcus/efectos de los fármacosRESUMEN
Fetomaternal hemorrhage induced by intraplacental choriocarcinoma is considered to be extremely rare. We herein describe a neonate with severe anemia caused by intraplacental choriocarcinoma that was histopathologically identified after birth. Furthermore, we reviewed three other such cases in Japan. As a result, the incidence of intraplacental choriocarcinoma may be higher than previously estimated. Therefore, we suggest that the placenta should be examined in any suspected cases of fetomaternal hemorrhage.