Skeletal abnormalities, hypocalcaemia and intracranial calcification.

Accepted 9 July 1997 A 35-year-old man was admitted to the infectious ward with complaints of loose motions and vomiting four to five times a day and generalised stiffness with severe muscle cramps four hours prior to admission. On examination he had tachycardia, a blood pressure of 90/60 mmHg, cold extremities and a dry tongue suggestive of moderate dehydration. He was conscious, well oriented, had generalised rigidity and carpopedal spasm. His serum calcium was 1.8 mmol/l (normal 2.2-2.6 mmol/l). He was given intravenous fluids, calcium gluconate, vitamin D3, ampicillin, and metronidazole, and he improved. His history revealed that he was mentally retarded from birth. He had been operated for cataract in both eyes four years earlier, and he had had a few episodes of carpopedal spasm. His physical appearance is shown in figure 1. A radiological skeletal survey revealed short metacarpals, a calcified sesamoid bone and bilateral capsular calcification of the hip joint. Computed tomography (CT) scan of the head was performed (figure 2). Laboratory investigations were normal except serum phosphate and serum parathyroid hormone levels, which were elevated.