RESUMEN
We report on the location, symptoms, and management of plexiform neurofibroma (PN) in children with Neurofibromatosis Type 1 (NF1) attending the 2 National Complex Neurofibromatosis 1 Services at Guy's and St. Thomas' NHS Foundation Trust, London and St Mary's Hospital, Manchester. Retrospective data collection was performed from patient chart reviews from April 2018 to April 2019. There were 127 NF1 patients with PN, age range 0.8-17.0, mean age was 9.9 years (SD ± 4.2 years). The main location of the PN was craniofacial in 35%, and limb in 19%. Disfigurement was present in 57%, pain in 28%, impairment of function in 23%, and threat to function in 9% of children. Fifty-four percent of patients were managed conservatively, 28% surgically, and 19% are either taking or due to start a mitogen-activated protein kinase kinase (MEK) inhibitor (selumetinib or trametinib), either through a clinical trial or compassionate usage scheme. This national study provides a comprehensive overview of the management of children with PN in an era where new therapies (MEK inhibitors) are becoming more widely available. We anticipate that there will be a shift to more patients receiving MEK inhibitor therapy and combination therapy (surgery and MEK inhibitor) in the future.
Asunto(s)
Neurofibroma Plexiforme , Neurofibromatosis 1 , Adolescente , Niño , Preescolar , Humanos , Lactante , Quinasas de Proteína Quinasa Activadas por Mitógenos , Neurofibroma Plexiforme/epidemiología , Neurofibroma Plexiforme/terapia , Neurofibromatosis 1/complicaciones , Neurofibromatosis 1/terapia , Inhibidores de Proteínas Quinasas/uso terapéutico , Estudios RetrospectivosRESUMEN
We present a case of initial seronegative West Nile virus encephalitis in an immunocompromised child due to B-cell acute lymphoblastic leukemia. Although diagnostic guidelines for West Nile virus infection exist, we highlight that these may not be met in immunocompromised patients who may have a delayed immune response.
Asunto(s)
Encefalitis Viral/diagnóstico por imagen , Huésped Inmunocomprometido , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicaciones , Fiebre del Nilo Occidental/diagnóstico por imagen , Fiebre del Nilo Occidental/inmunología , Virus del Nilo Occidental/patogenicidad , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Encéfalo/virología , Niño , Femenino , Humanos , Imagen por Resonancia Magnética , Leucemia-Linfoma Linfoblástico de Células Precursoras/virología , Fiebre del Nilo Occidental/complicaciones , Virus del Nilo Occidental/inmunologíaAsunto(s)
Adhesión a Directriz/ética , Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/fisiopatología , Adolescente , Anticoagulantes/efectos adversos , Niño , Salud Infantil/normas , Preescolar , Femenino , Adhesión a Directriz/estadística & datos numéricos , Humanos , Incidencia , Masculino , Neuroimagen/normas , Neuroimagen/estadística & datos numéricos , Pediatría/organización & administración , Convulsiones/diagnóstico , Convulsiones/etiología , Trastornos del Habla/diagnóstico , Trastornos del Habla/etiología , Accidente Cerebrovascular/epidemiología , Trombectomía/métodos , Trombectomía/estadística & datos numéricos , Terapia Trombolítica/métodos , Terapia Trombolítica/estadística & datos numéricos , Reino Unido/epidemiologíaRESUMEN
Developmental dysplasia of the hip (DDH) ranges from a clinically detectable dislocation of the hip to radiologically diagnosed hip abnormalities. It is caused by both antenatal and postnatal factors. The Neonatal and Infant Physical Examination Screening Programme recommends that newborns should undergo a hip ultrasound (USS) when risk factor or clinical features suggestive of DDH are present. The aim of hip ultrasonography is to detect DDH early and prevent late complications through early treatment. Here, we discuss how to use hip examination and USS in newborns.