RESUMO
Bladder rupture leading to urinary ascites in neonates is a very rare occurrence. It can present as a clinical emergency, requiring resuscitation, ventilator support, and acute derangement in renal function. There are only a few reported cases so far in the literature. The commonest etiology is posterior urethral valves which can occasionally lead to urinary ascites even in fetal life. But other proposed etiologies are umbilical arterial catheterization in extreme preterm babies and iatrogenic due to urethral catheterization injuries. Early detection is crucial so that appropriate management, including surgical drainage of the urine if performed early, can lead to the normalization of renal function. Large perforations may need surgical repair after stabilization. These cases can be a challenge for both neonatologists and surgeons. We report a case of bladder perforation in an extreme preterm baby at our hospital.
RESUMO
Multiple pterygium syndrome of lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterised by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia) of the neck, elbows, back of the knees, armpits and fingers. We present a case of lethal multiple pterygium syndrome born at our hospital proven by the genetic analysis showing a double homozygous mutation.
Assuntos
Anormalidades Múltiplas/genética , Hipertermia Maligna/diagnóstico , Hipertermia Maligna/genética , Metaloendopeptidases/genética , Mutação , Receptores Nicotínicos/genética , Anormalidades da Pele/diagnóstico , Anormalidades da Pele/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/fisiopatologia , Consanguinidade , Análise Mutacional de DNA , Suscetibilidade a Doenças , Evolução Fatal , Aconselhamento Genético , Heterogeneidade Genética , Humanos , Recém-Nascido , Masculino , Hipertermia Maligna/fisiopatologia , Linhagem , Anormalidades da Pele/fisiopatologiaRESUMO
Hepatoblastoma accounts for less than 1% of all pediatric malignancies. However, it remains the most common malignant tumor of the liver in newborns. Less than 10% of hepatoblastoma cases are diagnosed in the neonatal period. The diagnosis can be very difficult due to the wide spectrum of presentation and differences in the size of the lesion at the time of detection either antenatally or during an infant's neonatal course. In this review, we describe the current investigations used to establish the diagnosis of congenital hepatoblastoma and the role of a nuclear red cell scan as an additional strategy in the evaluation of this malignant condition. The report uses two cases of neonatal hepatoblastoma to highlight both the clinical and pathologic findings, and the problems encountered in the evaluation of this disorder.