Severe Infantile Hypercalcaemia

In 1932 Lightwood described a child aged 2 years whose illness resembled the terminal stages of severe infantile hypercalcaemia. Later Butler (1951) and Fanconi (1951) each reported similar cases and they then discussed their findings in ajoint paper (Fanconi, Girardet, Schlesinger, Butler and Black, 1952). Since then there have been several reports of the severe form of this disease in this country (Creery, 1953; Dawson, Craig and Perera, 1954; Lowe, Henderson, Park and McGreal, 1954; Russell and Young, 1954; Schlesinger, Butler and Black, 1956). The incidence in America is less but recently a few cases have been reported (Sissman and Klein, 1956; Daeschner and Daeschner, 1957; Bongiovanni, Eberlein and Jones, 1957). Lightwood and Stapleton (1953) believed that the severe type of infantile hypercalcaemia was a different syndrome from the mild type and they suggested that each should be labelled descriptively until more was known about them. They pointed out that in the mild form (Lightwood, 1952; Payne, 1952), the prognosis was good, but that in the severe form renal damage and mental retardation commonly occurred. This division into mild and severe forms is probably artificial because gradations between the two forms have emerged. We here describe three infants who were severely affected, and, in support of the conception of intermediate forms, a fourth infant who was moderately severely affected; in addition, this infant showed some of the features of infantile renal acidosis (Lightwood, 1935). We also report our observations on the facies as it is often a prominent and diagnostic feature of the disease.