Asunto(s)
Varicela/diagnóstico , Exantema/diagnóstico , Infecciones por VIH/diagnóstico , VIH-1/aislamiento & purificación , Herpesvirus Humano 3/aislamiento & purificación , Neumonía Viral/diagnóstico , Aciclovir/uso terapéutico , Antibacterianos/uso terapéutico , Antivirales/uso terapéutico , Recuento de Linfocito CD4 , Varicela/tratamiento farmacológico , Preescolar , Clindamicina/uso terapéutico , Quimioterapia Combinada , Exantema/tratamiento farmacológico , Floxacilina/uso terapéutico , Infecciones por VIH/tratamiento farmacológico , Infecciones por VIH/inmunología , Humanos , Masculino , Neumonía Viral/tratamiento farmacológico , Combinación Trimetoprim y Sulfametoxazol/uso terapéuticoRESUMEN
Genetic heterogeneity has been recognised in Peutz-Jeghers syndrome (PJS) (over 230 STK11 gene mutations reported). We report a rare PJS phenotype with early extensive gastrointestinal (GI) presentation and a new genetic variant. The case presented as haematochezia and mucocutaneous pigmentation (the patient was 3 years of age). Endoscopy showed several polyps throughout the stomach/colon (PJ-type hamartomas); the larger polyps were resected. Small bowel imaging detected multiple jejunum/ileum small polyps. During 8 years of follow-up of this asymptomatic patient, an increasing number of diffusely distributed polyps was observed and polypectomies were performed. Subsequently, the patient failed consultations; when the patient was 13 years of age, emergency surgery was required due to small bowel intussusception (ileal polyp). A STK11 gene study identified two missense variants in heterozygous (yet unknown significance but probably pathogenic): c.854T>A (exon 6) and c.446C>T* (exon 2) (*not previously reported). We report two STK11 gene variants (one not previously described) of yet undetermined causality in a paediatric patient presenting with extensive GI involvement at a very early age, with no family medical history. Structural and functional repercussion of the newly described variants should be further investigated.
Asunto(s)
Variación Genética , Síndrome de Peutz-Jeghers/genética , Proteínas Serina-Treonina Quinasas/genética , Quinasas de la Proteína-Quinasa Activada por el AMP , Adolescente , Niño , Preescolar , Colon/patología , Pólipos del Colon/genética , Exones , Humanos , Enfermedades del Íleon/genética , Intestino Delgado/patología , Intususcepción/genética , Masculino , Mutación Missense , Síndrome de Peutz-Jeghers/complicaciones , Fenotipo , Pólipos/genética , Estómago/patologíaAsunto(s)
Anomalías Múltiples/genética , Antiarrítmicos/uso terapéutico , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Microftalmía/diagnóstico , Propranolol/uso terapéutico , Anomalías Cutáneas/diagnóstico , Anomalías Múltiples/patología , Cromosomas Humanos X/genética , Femenino , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Enfermedades Genéticas Ligadas al Cromosoma X/fisiopatología , Enfermedades Genéticas Ligadas al Cromosoma X/terapia , Ligamiento Genético , Humanos , Recién Nacido , Microftalmía/genética , Microftalmía/fisiopatología , Microftalmía/terapia , Anomalías Cutáneas/genética , Anomalías Cutáneas/fisiopatología , Anomalías Cutáneas/terapia , SíndromeRESUMEN
Langerhans cell histiocytosis (LCH) is a rare disease of unknown origin with a heterogeneous clinical presentation, varying from benign and self-limited to lethal. It is classified as single or multisystemic, according to the number of organs involved (one or at least two, respectively). Diagnosis can be challenging and is based on the histological and immunophenotypic examination of affected tissues. Secondary haemophagocytic lymphohistiocytosis is rarely reported in association with LCH and may impair its diagnosis. Some authors suggest that the coexistence of the two disorders is more than coincidental. We present a case of multisystem LCH in a 5-month-old infant, with all risk organs involved, in which severity and rapid progression reflect an association with haemophagocytic syndrome.
Asunto(s)
Histiocitosis de Células de Langerhans/complicaciones , Linfohistiocitosis Hemofagocítica/complicaciones , Amoxicilina/uso terapéutico , Antibacterianos/uso terapéutico , Ácido Clavulánico/uso terapéutico , Clindamicina/uso terapéutico , Diagnóstico Diferencial , Transfusión de Eritrocitos/métodos , Resultado Fatal , Histiocitosis de Células de Langerhans/tratamiento farmacológico , Histiocitosis de Células de Langerhans/terapia , Humanos , Lactante , Linfohistiocitosis Hemofagocítica/tratamiento farmacológico , Linfohistiocitosis Hemofagocítica/terapia , Masculino , SíndromeRESUMEN
Primary HIV infection (PHI) is symptomatic in 50-90% of patients with symptoms resembling infectious mononucleosis. The diagnosis, however, is seldom made at first presentation. Clinically severe presentations during primary HIV type 1 infection are considered to occur infrequently. We report a case of a severe manifestation of PHI with meningoencephalitis in the setting of HIV seroconversion in an adolescent girl.