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Severe Infantile Hypercalcaemia with Special Reference to the Facies

1958; BMJ; Volume: 33; Issue: 171 Linguagem: Inglês

10.1136/adc.33.171.385

1468-2044

M. Joseph, D M Parrott,

Osteomyelitis and Bone Disorders Research

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 com- monly 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.Case Histories Case 1. B.G. was the second child of healthy parents.Pregnancy and delivery were normal, and her birth weight was 7 lb.12 oz.She was breast fed for the first three weeks, and then as lactation failed she was fed on National Dried Milk, half cream for six weeks and subsequently full cream.About 400 units of vitamin D (National Cod Liver Oil compound) were given daily.Vomiting dated from birth, and usually occurred about half an hour after a feed; it was often bile stained.Initially she took her feeds fairly well but as her gain in weight was unsatisfactory she was admitted to a hospital at the age of 3 months; while there regurgitation occurred and a barium meal was normal; she was discharged home after four days.Her vomiting and failure to thrive continued, and at the age of 4 months one of us first saw her at an infant welfare clinic.Her weight was then 9 lb. 14oz., and physical examination showed an apathetic infant, with a wide mouth, epicanthic folds and a concomitant squint (Fig. 1); a loud blowing systolic FIG.1.-The facial appearance.