RESUMEN
INTRODUCTION: The association between hypopituitarism, Chiari I malformation, and syringomyelia has been recently recognized. Most of the reported patients suffered perinatal injury or asphyxia. MATERIALS AND METHODS: We present the case of a premature child without identifiable perinatal injury, who was recognized to have growth hormone (GH) deficiency, Chiari I malformation, and syringohydromyelia. CONCLUSION: There was a resolution of syrinx and tonsillar herniation after GH replacement.
Asunto(s)
Malformación de Arnold-Chiari/tratamiento farmacológico , Hormona de Crecimiento Humana/uso terapéutico , Siringomielia/tratamiento farmacológico , Malformación de Arnold-Chiari/complicaciones , Malformación de Arnold-Chiari/patología , Niño , Humanos , Recién Nacido , Recien Nacido Prematuro , Imagen por Resonancia Magnética , Masculino , Siringomielia/complicaciones , Siringomielia/patología , Tiroxina/uso terapéuticoRESUMEN
Children with papillary thyroid carcinoma (PTC) may relapse despite response to radioactive iodine (RAI). Two children with multiply relapsed PTC underwent whole-genome and transcriptome sequencing. A TPM3-NTRK1 fusion was identified in one tumor, with outlier NTRK1 expression compared to the TCGA thyroid cancer compendium and to Illumina BodyMap normal thyroid. This patient demonstrated resolution of multiple pulmonary nodules without toxicity on oral TRK inhibitor therapy. A RET fusion was identified in the second tumor, another potentially actionable finding. Identification of oncogenic drivers in recurrent pediatric PTC may facilitate targeted therapy while avoiding repeated RAI.
Asunto(s)
Biomarcadores de Tumor , Genómica , Cáncer Papilar Tiroideo/genética , Cáncer Papilar Tiroideo/patología , Alelos , Niño , Estudio de Asociación del Genoma Completo , Genómica/métodos , Genotipo , Humanos , Masculino , Terapia Molecular Dirigida , Mutación , Proteínas de Fusión Oncogénica/genética , Tomografía Computarizada por Tomografía de Emisión de Positrones , Cáncer Papilar Tiroideo/tratamiento farmacológico , Tomografía Computarizada por Rayos XRESUMEN
We describe 2 patients with very unusual rheumatological presentations presumably caused by Bartonella infection: one had myositis of proximal thigh muscles bilaterally, and the other had arthritis and skin nodules. Both patients had very high levels of antibody to Bartonella that decreased in association with clinical improvement. Bartonella infection should be considered in the differential diagnosis of unusual myositis or arthritis in children.