RESUMO
BACKGROUND: Mulibrey-Nanism (Muscle-liver-brain-eye Nanism = dwarfism; MUL) is a rare genetic syndrome. The underlying TRIM37 mutation predisposes these children to develop tumors frequently. In the largest published series of MUL, 8% patients were reported to develop Wilms tumor (WT). The published literature lacks data regarding the best treatment protocol and outcome of this cohort of children with WT and MUL. We report here a 2-year-old boy with WT and MUL and present a review of literature on WT in MUL. CASE: Our patient had associated cardiac problems of atrial septal defect, atrial flutter and an episode of sudden cardiac arrest. We managed him successfully with chemotherapy, surgery and multi-speciality care. He is alive and in remission at follow-up of 6 months. CONCLUSION: A total of 14 cases (including present case) of WT have been reported in MUL and treatment details were available for six cases. They were managed primarily with surgery, chemotherapy with/without radiotherapy, and all achieved remission. The outcome data is available only for two cases, one has been followed up till 15 years post treatment for WT and other is our patient.
Assuntos
Neoplasias Renais , Nanismo de Mulibrey , Tumor de Wilms , Criança , Pré-Escolar , Humanos , Neoplasias Renais/diagnóstico , Neoplasias Renais/terapia , Masculino , Nanismo de Mulibrey/complicações , Nanismo de Mulibrey/genética , Nanismo de Mulibrey/patologia , Proteínas Nucleares/genética , Proteínas com Motivo Tripartido , Ubiquitina-Proteína Ligases , Tumor de Wilms/complicações , Tumor de Wilms/diagnóstico , Tumor de Wilms/terapiaRESUMO
Infants with tetralogy of Fallot (ToF) presenting with desaturation may require augmentation of the pulmonary blood flow, usually in the form of a Blalock-Taussig shunt. Shunts may result in a preferential increase in blood flow to one lung. They also may be associated with significant morbidity and possibly mortality of premature infants. Balloon dilation of the pulmonary valve is reported to improve saturation in early infancy. This report describes two premature infants (weighing, respectively, 1.8 and 1.6 kg) with ToF and desaturation for whom balloon dilation of the pulmonary valve showed good results. Neither infant required palliative surgery. At this writing, one infant has already undergone complete repair.
Assuntos
Cateterismo , Doenças do Prematuro/terapia , Valva Pulmonar , Tetralogia de Fallot/terapia , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/diagnóstico por imagem , Cuidados Paliativos , Tetralogia de Fallot/diagnóstico por imagem , UltrassonografiaRESUMO
Innominate artery may cross the trachea and cause airway obstruction is a rare cause of vascular obstruction of airway. We describe a child with stridor, inability to extubate in whom the diagnosis was suspected on fluoroscopy and confirmed by angiography. Reimplantation of the innominate artery resulted in excellent results with longterm follow up. Variantions of this condition and modalities for confirmation of diagnosis are discussed.
