Ocular Pathology in the Elfin Face Syndrome (The Fanconi-Schlesinger Type of Idiopathic Hypercalcaemia of Infancy)

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Abstract
The pathology, particularly the ocular pathology, is described in a 42 yr old mildly retarded man with a history of vomiting in infancy. He had an elfin-like face. He died with a pancreatic carcinoma. A supravalvular aortic stenosis and a hypoplastic aorta found clinically were confirmed in autopsy. Staining for Ca was positive in the aortic wall, kidney, adrenal and spleen. In the eyes, Ca was found in the corneal epithelium and endothelium, corneal keratocytes and stroma, conjunctival epithelium and the sclera. EM of the eyes revealed that Ca 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 Ca in this patient were normal during his adult life, the histopathological examination indicates an earlier of raised serum Ca. The patient probably had idiopathic hypercalcemia 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 Ca storage post-mortem and in vivo (by conjunctival biopsy) in order to substantiate the diagnosis of hypercalcemia.

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