RESUMEN
Studies have demonstrated that up to 17% of patients with pancreatic neuroendocrine tumours (pNETs) present pathogenic germline variants (PGVs) in several different genes, irrespective of family cancer history. Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer predisposition syndrome related to PGVs in the TP53 gene. A previous case of a pNET associated with LFS (c.1009C > T, p.R337C) has been reported. Here we report the first case of a patient with pNET and TP53 p.R337H and XAF1 p.E134* germline variants, expanding the knowledge of LFS and germline mutations in neuroendocrine tumours.
Asunto(s)
Tolerancia al Ejercicio/fisiología , Deficiencia Múltiple de Acil Coenzima A Deshidrogenasa/diagnóstico por imagen , Enfermedades Musculares/diagnóstico por imagen , Insuficiencia Respiratoria/diagnóstico por imagen , Riboflavina/uso terapéutico , Complejo Vitamínico B/uso terapéutico , Adulto , Diagnóstico Diferencial , Femenino , Humanos , Deficiencia Múltiple de Acil Coenzima A Deshidrogenasa/tratamiento farmacológico , Enfermedades Musculares/tratamiento farmacológico , Insuficiencia Respiratoria/tratamiento farmacológicoRESUMEN
Richner-Hanhart syndrome (RHS, tyrosinemia type II) is a rare, autosomal recessive inborn error of tyrosine metabolism caused by tyrosine aminotransferase deficiency. It is characterized by photophobia due to keratitis, painful palmoplantar hyperkeratosis, variable mental retardation, and elevated serum tyrosine levels. Patients are often misdiagnosed with herpes simplex keratitis. We report on a a boy from Brazil who presented with bilateral keratitis secondary to RHS, which had earlier been misdiagnosed as herpes simplex keratitis
Asunto(s)
Humanos , Masculino , Preescolar , Queratitis Herpética , Queratodermia Palmoplantar , Tirosinemias/diagnósticoRESUMEN
Richner-Hanhart syndrome (RHS, tyrosinemia type II) is a rare, autosomal recessive inborn error of tyrosine metabolism caused by tyrosine aminotransferase deficiency. It is characterized by photophobia due to keratitis, painful palmoplantar hyperkeratosis, variable mental retardation, and elevated serum tyrosine levels. Patients are often misdiagnosed with herpes simplex keratitis. We report on a a boy from Brazil who presented with bilateral keratitis secondary to RHS, which had earlier been misdiagnosed as herpes simplex keratitis.