Knee pterygium syndrome in a newborn infant

We report on a newborn boy with popliteal pterygium syndrome. Congenital anomalies included popliteal pterygia, symblepharon, cleft lip and palate with syngnathia, severe hypoplasia of both thumbs, a characteristic nail anomaly of both first toes, multiple syndactylies, and a hypoplastic scrotum with cryptorchidism. Mental development can be expected to be normal. Overall prognosis of the disorder after detailed operative correction is apparently favorable. Differential diagnosis is discussed in detail. The syndrome is autosomal dominantly inherited, our patient represents an isolated case.     

The Kasabach-Merritt syndrome with pancreatic localization in a newborn infant

The case of a neonate with a large pancreatic hemangioma belonging to the Kasabach-Merritt syndrome is reported. Selective embolization of one of the main vessels originating from the gastroduodenal artery resulted in a progressive increase of blood platelet levels and in a concomitant change in the hemangiomatous structure at ultrasound examination, as well as in a subsequent acceleration of somatic growth. At 8 months of age, there were no more clinical, radiological, ultrasonographic or biological signs of the hemangioma. This case report emphasizes the interest of embolization in the Kasabach-Merritt syndrome.     

Complex cyanotic congenital heart disease correctable with an intra-atrial baffle

Summary The clinical, angiocardiographic, and surgical findings in a cyanotic child with dextrocardia, L-loop, laterally inverted but otherwise normally related great arteries, and situs ambiguus are described and compared with other similar cases. Electrocardiographic, echocardiographic, and angiographic data are reviewed, and thesegmental approach to diagnosis is stressed. Both systemic and pulmonary veins returned to the right-sided atrium. Blood then passed either through the mitral valve to the morphologically left ventricle and to the aorta or through an atrial septal defect to a small left-sided atrium, right ventricle, and pulmonary artery. Total correction was undertaken with an intra-atrial baffle to direct pulmonary venous return to the morphologically right ventricle and systemic venous return to the right ventricle. The subpulmonic stenosis was alleviated with an outflow patch. Supported by Public Health Service grants HL 05846 and HL 12373     

Cavernous hemangioma and disseminated intravascular coagulation (Kasabach-Merritt syndrome) in a newborn infant with a large ventricular septal defect

In a 3170 g newborn with a large cavernous hemangioma at the left thigh, heart failure was evident. Echo- and angiographically a large perimembranous ventricular septal defect was found. An important a-v shunt within the hemangioma could be excluded by hemodynamic investigation and selective arteriographic examination of the vascular tumor. Thrombocytopenia present from the first day of life was only temporarily overcome by corticosteroid therapy but nevertheless consumption coagulopathy (Kasabach-Merritt-Syndrome) developed and additional therapy with heparin was necessary in order to normalize the coagulation factors. However, no regression in size of the tumor occurred over the first 8 weeks of life and a total exstirpation of the hemangioma was performed. Postoperatively no further cortison or heparin therapy was necessary. Despite vigorous medical treatment the congestive heart failure persisted. After surgical closure of the ventricular septal defect at the age of three months the infant thrived and could be discharged without pathological symptoms.     

Prostaglandin-induced foveolar hyperplasia simulating pyloric stenosis in an infant with cyanotic heart disease

Prostaglandin infusion is used to maintain patency of the ductus arteriosus in infants with cyanotic congenital heart disease. Recently, gastric outlet obstruction as a result of prostaglandin infusion has been described. In our case, an upper gastrointestinal contrast study seemed to depict the typical appearance of pyloric stenosis in an infant who had received an infusion of prostaglandin for a prolonged period. Serial ultrasonograms, however, disclosed progressive elongation of the antropyloric channelwithout wall thickening. This report is the second to illustrate prostaglandin-induced gastric outlet obstruction in a vomiting infant with a gastrointestinal series diagnosis of pyloric stenosis.