A case of hypothyroidism with nephrocalcinosis.

Case Report A girl aged 44 years was admitted to the Paediatric Unit, Clatterbridge HospitaL Bebington, Cheshire, on February 8, 1954. She had been taken to her family doctor for treatment of a furuncle below the right eye and he had referred her as a case of ceinisn. The child weighed 74 lb. at birth and was born in West Kirby, Wirral. She was breast fed for one month and then the family moved to Scotland. She is the second child in a family of three. The siblings, a sister aged 6 years and a brother aged 2 years, are normal and healthy. The parents are well and there is no family history of goitre. At the age of 3 months the mother noticed that the child had little interest in her surroundings and that she had a large tongue and a squint. At 9 months she started to hold up her head, and began to sit with support when 31 years old. Her first tooth erupted at that time. She had always been constipated. Normal amounts of vitamin D in the form of cod liver oil and 'minadex' had been given. When 10 months old, the patient was seen at another hospital and a diagnosis of mongolism was made. No treatment was advised and the parents accepted this opinion. On admission to Clatterbridge Hospital she presented the typical appearance of hypothyroidism. She had dry, scanty hair, a dull expression, and a large protruding tongue. The abdomen was protuberant, the extremities blue and cold, the skin greyish, mottled, coarse and dry, and there was non-pitting oedema and myxoedematous firnness of the tissues. She was grossly stunted (height 26 in., weight 184 lb., skull circumference 161 in., abdominal girth 194 in.) and the limbs were short. One upper and one lower incisor were erupting She could smile and hold up her head and just sit with support. However, she was not interested in her surroundings, could not stand even with support and could not talk. Feeding was difficult and mainly from the bottle and she was very constipated (Fig. 1). A radiograph (Fig. 2) showed retarded ossification of the skull bones. The anterior and posterior fontanelles remained open. Several Wormian bones were present and the bones at the base of the skull were thickened and the base was short A radiograph of the lower limbs (Fig. 3) showed retarded ossification of all the epiphyseal centres with sclerotic lines at the ends of the long bones. The ossification centres showed epiphyseal dysgenesis. A radiograph of the wrist also showed delay in ossification and dense lines at the lower ends of the radial and ulnar shafts. Radiographs of abdomen and hips