RESUMO
Turcot's syndrome or the glioma polyposis syndrome is a rare variant of the polyposis syndrome and it is characterized by colonic polyposis and central nervous system neoplasm typically a glioblastoma or a medulloblastoma. We present a case of Turcot's syndrome in a child with malignant transformation.
Assuntos
Polipose Adenomatosa do Colo/diagnóstico , Neoplasias Encefálicas/diagnóstico , Glioblastoma/diagnóstico , Polipose Adenomatosa do Colo/genética , Polipose Adenomatosa do Colo/cirurgia , Adolescente , Neoplasias Encefálicas/genética , Transformação Celular Neoplásica , Consanguinidade , Diagnóstico Diferencial , Glioblastoma/genética , Humanos , Masculino , Linhagem , SíndromeRESUMO
Morgagni's hernia is an uncommon type of diaphragmatic hernia in the pediatric age group. Out of 52 children with different types of congenital diaphragmatic hernia that we have treated, 5 (9.6%) had Morgagni's hernia. There were 2 infants and 3 children including one with Down's syndrome. All suffered from repeated attacks of chest infection, and only after a chest X-ray was the diagnosis of Morgagni's hernia suspected. In 2 cases this appeared as an opacity in the anterior mediastinum adjacent to the pericardium; diagnosis was confirmed by barium enema in one and a CT-scan in the other. The remaining 3 cases showed anterior herniation of bowel loops on chest X-ray which was bilateral in one. This bilaterality was confirmed pre-operatively by CT scan. Associated anomalies were present in all cases, including 2 with malrotation. All patients were treated surgically via a transabdominal approach. Our study shows a relative high frequency of Morgagni's hernia in our patients and, although late-presenting Morgagni hernias are relatively benign, it can cause significant morbidity. This calls for early diagnosis and early referral for surgery. Chest X-ray is to be strongly advocated in children with repeated attacks of chest infection.
Assuntos
Anormalidades Múltiplas/diagnóstico , Procedimentos Cirúrgicos do Sistema Digestório/métodos , Hérnia Diafragmática/diagnóstico , Hérnia Diafragmática/cirurgia , Infecções Respiratórias/etiologia , Anormalidades Múltiplas/diagnóstico por imagem , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Predisposição Genética para Doença , Hérnia Diafragmática/complicações , Hérnia Diafragmática/diagnóstico por imagem , Hérnias Diafragmáticas Congênitas , Humanos , Lactente , Masculino , Radiografia , Arábia Saudita , Resultado do TratamentoRESUMO
Wandering spleen is a rare clinical condition that presents commonly with splenic infarction secondary to torsion. Intrauterine torsion of a wandering spleen, however, is extremely rare. An unusual case of intrauterine torsion of a wandering spleen presenting as an abdominal mass is reported.
