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.
Assuntos
Coristoma/diagnóstico , Cistos/diagnóstico , Baço , Esplenopatias/diagnóstico , Abdome , Coristoma/cirurgia , Diagnóstico Diferencial , Edema/diagnóstico , Humanos , Recém-Nascido , Masculino , Diagnóstico Pré-Natal , Esplenectomia , Esplenopatias/cirurgia , Tomografia Computadorizada por Raios X , Anormalidade TorcionalRESUMO
The association between epidermolysis bullosa (EB) and congenital pyloric atresia (CPA) is rare, but is known distinct clinical entity with autosomal recessive inheritance. The outcome of such an association was universally fatal. This is a report of two newborns with EB and CPA, associated with additional aplasia cutis congenita in one case. One patient was treated postoperatively with phenytoin and survived. Aspects of the diagnosis, pathogenesis, and management are also discussed.
Assuntos
Epidermólise Bolhosa Juncional/complicações , Piloro/anormalidades , Displasia Ectodérmica/complicações , Feminino , Genes Recessivos , Humanos , Recém-Nascido , MasculinoRESUMO
The insertion of central venous catheters has become an established practice in the management of children with different types of malignancies for the administration of chemotherapeutic agents, antibiotics, blood and blood products, as well as drawing blood for various investigations. A commonly encountered problem is that despite the catheter being patent it may be impossible to draw blood from it. We believe this is related to the cut of the catheter tip. To overcome this problem, a technique for cutting the tip of the catheter is described.
Assuntos
Coleta de Amostras Sanguíneas/métodos , Cateterismo Venoso Central/instrumentação , Cateterismo , Coleta de Amostras Sanguíneas/instrumentação , Desenho de Equipamento , HumanosRESUMO
Synchronous bilateral Wilms' tumor (WT) accounts for 5% of all WTs. Of 34 cases of WT we treated, 7 (20.6%) were bilateral, 5 of them males. This high frequency of bilaterality as well as the male preponderance in our series is different from that reported in other parts of the world; this may reflect regional variations of WT. The details of diagnosis, therapy, including the role of preoperative chemotherapy, and outcome are presented.
Assuntos
Neoplasias Renais/terapia , Tumor de Wilms/terapia , Antineoplásicos/uso terapêutico , Pré-Escolar , Terapia Combinada , Feminino , Humanos , Lactente , Neoplasias Renais/diagnóstico , Masculino , Recidiva Local de Neoplasia , Estudos Retrospectivos , Resultado do Tratamento , Tumor de Wilms/diagnósticoRESUMO
Full text is available as a scanned copy of the original print version.
RESUMO
This report describes a neonate with a very rare and an unusual variety of esophageal atresia and tracheoesophageal fistula. The anomaly consisted of esophageal atresia and double distal tracheoesophageal fistula. The two fistulae as well as part of the distal esophagus were made up of tracheobronchial tissues. The embryology of the anomaly is also discussed.
