RESUMEN
A 18 months old female child with a de novo 16q deletion is described. The clinical findings in this patient are similar to the phenotype first described by Fryns et al. (11) in 16q deletion. The present deletion involves the region 16q11.2-q12.2 suggesting a second critical smallest region of overlap (S.R.O.) more proximal to the centromere than the one previously located in 16q21.
Asunto(s)
Anomalías Múltiples/genética , Aberraciones Cromosómicas/genética , Deleción Cromosómica , Cromosomas Humanos Par 16 , Huesos Faciales/anomalías , Reflujo Gastroesofágico/genética , Cráneo/anomalías , Anomalías Múltiples/diagnóstico , Trastornos de los Cromosomas , Femenino , Reflujo Gastroesofágico/diagnóstico , Hernia Hiatal/diagnóstico , Hernia Hiatal/genética , Humanos , Lactante , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/genética , Cariotipificación , Pulgar/anomalíasRESUMEN
A case of mesenteric cystic lymphangioma revealed by hypochromic anemia and abdominal pain, secondary to an intracystic hemorrhage is reported in a 4-year old child. Etiology, pathology, diagnosis, treatment and prognosis of mesenteric lymphangioma in children are reviewed.
Asunto(s)
Linfangioma/complicaciones , Quiste Mesentérico/complicaciones , Mesenterio , Neoplasias Peritoneales/complicaciones , Preescolar , Femenino , Humanos , Linfangioma/diagnóstico por imagen , Linfangioma/cirugía , Quiste Mesentérico/diagnóstico por imagen , Quiste Mesentérico/cirugía , Neoplasias Peritoneales/diagnóstico por imagen , Neoplasias Peritoneales/cirugía , Pronóstico , Tomografía Computarizada por Rayos X , UltrasonografíaRESUMEN
A case of mesenteric cystic lymphangioma revealed by hypochromic anemia and abdominal pain, secondary to an intracystic hemorrhage is reported in a 4-year old child. Etiology, pathology, diagnosis, treatment and prognosis of mesenteric lymphangioma in children are reviewed.
Asunto(s)
Anemia Hipocrómica/etiología , Linfangioma/cirugía , Neoplasias Peritoneales/cirugía , Preescolar , Femenino , Humanos , Linfangioma/sangre , Linfangioma/complicaciones , Linfangioma/diagnóstico , Neoplasias Peritoneales/sangre , Neoplasias Peritoneales/complicaciones , Neoplasias Peritoneales/diagnóstico , Pronóstico , Tomografía Computarizada por Rayos X , UltrasonografíaRESUMEN
A 12 year old child presented with a hemorrhagic Meckel's diverticulum, gastric heterotopia without identifiable ulceration and a totally aberrant pancreas. The diagnostic value of 99m-technetium abdominal scintigraphy in patients with Meckel's diverticula and gastric heterotopia, as well as the limits of this investigation, are discussed.