P Goddeeris

Multiple ankyloses, facial anomalies, and pulmonary hypoplasia associated with severe antenatal spinal muscular atrophy

Two unrelated patients with multiple ankyloses, pulmonary hypoplasia, and characteristic facies syndrome had definite evidence of severe spinal muscular atrophy of prenatal onset. In addition, there were specific changes in the adrenal cortex.

The Meckel Syndrome. Pathological and Cytogenetic Observations in Eight Cases

SummaryEight new cases of Meckel syndrome, two of them occurring in the same family, are presented. Occipital encephalocele of varying extent, multicystic renal dysplasia not associated with urinary tract obstruction, and postaxial hexadactyly comprise the three basic features of this lethal syndrome with autosomal recessive inheritance. From our observations it appears that congenital hepatic fibrosis, abnormal external genitalia in male infants and a malformed tongue with lipomatous excrescences are also frequently occurring anomalies with important diagnostic value.The statement that the majority of cases of Meckel syndrome can be detected prenatally is further supported by two cases in the present series. The incidence of this syndrome may be much higher than previously thought.

Lung metastasis of malignant epithelioid hemangioendothelioma mimicking a primary intravascular bronchioalveolar tumor. A histologic, ultrastructural, and immunohistochemical study

A 40‐year‐old woman presented with multiple nodules in both lungs and a small tumoral mass at the level of the left brachial artery. A pathologic diagnosis of pulmonary intravascular bronchioloalveolar tumor (IVBAT) and epithelioid hemangioendothelioma of the limb was established. Morphologic and immunohistochemical studies highly suggest that both tumors are manifestations of the same neoplastic process. In this case a metastatic nature of the IVBAT is suggested. The diagnosis of pulmonary IVBAT should be followed by a search for sclerosing vascular tumors elsewhere. Finally, the results substantiate the vascular origin of the IVBAT.

Liver necrosis in the new-born infant: Analysis of some precipitating factors in neonatal care

In order to gain more insight into the factors precipitating liver necrosis in the new-born infant, the clinical and laboratory findings, and the therapeutic regiments were analysed in a group of 13 new-born infants who died with severe liver damage. The data are compared with those of a group of 39 infants with intact livers. Faulty localization of the catheter tip in right or left branch of the portal vein, administration of THAM through the umbilical vein and thrombopenia were significantly related to thrombosis of the umbilical and portal vein and liver necrosis. This demonstrates that some simple precautions can prevent severe liver damage.