Ocular pathology in the elfin face syndrome (the Fanconi-Schlesinger type of idiopathic hypercalcaemia of infancy). Histochemical and ultrastructural study of a case

Abstract

The pathology, particularly the ocular pathology, is described in a 42-year-old mildly retarded man with a history of vomiting in infancy. He had an elfin-like face. He died having a pancreatic carcinoma. At autopsy, a supravalvular aortic stenosis and a hypoplastic aorta found clinically were confirmed. Stainings for calcium were positive in the aortic wall, the kidneys, the adrenals and the spleen. In the eyes, calcium was found in the corneal epithelium and endothelium, in corneal keratocytes and stroma, in conjunctival epithelium and in the sclera. Electron microscopy of the eyes revealed that calcium was deposited as hydroxyapatite intracellularly in aggregations of needle-like crystals and extracellularly as spherules morphologically different from the intracellular deposits. Although the serum values of calcium in this patient were normal during his adult life, the histopathological examination indicates an earlier period of raised serum calcium. We find it probable that he had idiopathic hypercalcaemia in infancy, thereby connecting this infantile condition with the elfin face and supravalvular aortic stenosis. In similar cases, the use of the above-mentioned technique is recommended for revealing abnormal calcium storage post-mortem and in vivo (by conjunctival biopsy) in order to substantiate the diagnosis of hypercalcaemia.