This article describes the case of a boy, 1 year and 5 months old, with generalized tortuosity and lengthening of all major arteries, including the coronary arteries and the pulmonary artery. The early death of the patient was attributed to coronary insufficiency and multiple severe peripheral pulmonary stenoses. The pathological changes were confined to the elastic arteries and the first part of the muscular arteries. The wall of the aorta was thickened and there was an increase of the elastic fibers. The same changes were present in the main pulmonary artery. In the large muscular arteries, the characteristic changes were thickening of the intima with hyperplasia of the elastic fibers and degenerative fragmentation of the internal elastic membrane. The walls of the coronary arteries were thickened and their lumina were narrow.

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Using electron microscopy, glycogen-filled lysosomes were found in peripheral lymphocytes in 5 cases of the infantile form of glycogenosis type II. In two infants whose blood smears were available, the ultrastructural demonstration of this pathognomonic storage corresponded to well-delineated vacuoles detected by routine light microscopy. Detection of such vacuoles in peripheral lymphocytes by light microscopy and demonstration of glycogen-filled lysosomes by electron microscopy could be a simple and harmless tool for diagnosing the classical form of type II glycogenosis.

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Description and discussion of the findings in a five month old infant and a six year old boy, in whom unilateral absence of the pulmonary artery contralateral to the aortic arch could be demonstrated by means of angiocardiography. The infant, having absence of the right pulmonary artery associated with patent ductus arteriosus and obstructive pulmonary vascular disease of the left lung died after recurrent pulmonary infections in acute heart failure. The boy with absence of the left pulmonary artery could be shown to have moderate-severe peripheral stenosis at the origin of the right pulmonary artery from the main pulmonary artery. Pulmonary function studies showed normal values. During a follow-up of 5 years the boy doesn't show any symptoms. In both cases an accessory vessel could be demonstrated on the side of the absent pulmonary artery originating from the innominate artery and leading to the hilum of the corresponding lung. Embryologically these vessels probably represent persistence of the second primitive ductus arteriosus. According to its development the disease more precisely should be designated as unilateral proximal aplasia of the 6th ventral aortic arch, i.e. of the definitive pulmonary artery.