Two cases of systemic tortuosity and lengthening of the arteries

Abstract

Two male infants with systemic tortuosity and lengthening of the arteries were reported. Both cases had convulsive seizures and psychomotor retardation.
Clinical analysis of these cases was performed.
1) Cerebral angiogram and abdominal aortogram revealed systemic tortuosity and lengthening of the arteries.
2) Serum copper and ceruloplasmin were found to be extremely low.
3) Biopsy of the artery done in the first cases failed to show any marked abnormality. Clinical analysis, signs and symptoms of these cases resembled those of kinky hair disease, but these cases had no kinky hair, metaphyseal supurring, or osteoporosis.
Syphilis, arteriosclerosis, hypertension, mucopolysaccharidosis, and amino acid metabolism disorders were ruled out.
Pathophysiology of arterial abnormality (hemo dynamic), signs and symptoms of central nervous system (biochemical) and their relationship to biometal (copper, zinc, molybdenum, iron) metabolism were discussed by review of literatures.