A metabolic disorder similar to Zellweger syndrome with hepatic acatalasia and absence of peroxisomes, altered content and redox state of cytochromes, and infantile cirrhosis with hemosiderosis.

A patient with a cerebro-hepato-renal syndrome was investigated. The visceral manifestations were those of the Zellweger syndrome (ZS); however, the child exhibited muscular hypertonia and survived into the 2nd year of life. Ultramicroscopically, hepatocytes were lacking peroxisomes, but, contrary to findings in one patient with ZS [2], contained smooth endoplasmic reticulum.

Structural analysis of pulmonary vascular changes in a case of infantile calcifying arteriopathy.

In a well documented case of ACI, the pulmonary vessels were subjected to light microscopy, radiography, electron microscopy and X-ray microanalysis. The analysis of calcified foci in the walls of large and medium pulmonary arteries demonstrated a marked correlation between the deposits of calcium and phosphorus and the number of elastic fibers. The interpretation of our observations is in favour of a congenital defect of elastic fiber formation in the vascular walls, followed by calcification.

Special clinical, light and electron microscopic aspects of acute intermittent porphyria.

Clinical symptoms in 26 patients with acute intermittent porphyria (AIP) were correlated with light and electron microscopic findings. Abdominal pain, neuropsychiatric disorders and pathologic urine tests were predominant. Light and electron microscopic pictures of the central nervous system, the liver and the kidney were shown.

Subacute necrotizing encephalomyelopathy. Clinical, ultrastructural, biochemical and therapeutic studies in an infant.

Subacute necrotizing encephalomyelopathy (SNE) has been observed in an infant with regressing psychomotor development. The concentrations of alanine, pyruvate and lactate were increased in the serum and blood as well as in the cerebrospinal fluid. Pyruvate carboxylase activity was reduced in the liver tissue.