Parathyroid Hyperplasia in an Infant

Abstract

Diffuse hyperplasia of the parathyroid glands is a rare condition in infancy, and both the clinical picture and the histologic structure of the parathyroid glands differ somewhat from those of the comparable disorder in adults. As far as we can ascertain, two previous fatal cases1,2 have been reported with both clinical and postmortem descriptions. In addition, a probable further example of this condition, with apparently successful surgical intervention, has been reported by Landon.3 In these three cases the disease process was present in early infancy, and in two of the cases it proved fatal. The present report describes a further example of infantile hyperparathyroidism resulting from diffuse hyperplasia of the parathyroid glands. Report of CaseThe patient was born in May, 1960, the first child of a deaf and dumb, severely mentally retarded mother. At birth he weighed 5 lb. 4\m=1/4\oz. (about 2,388 gm.). He was admitted to hospital where he was described as having an "elflike" face with a narrow head and a sharp nose. The occipitofrontal circumference was 12¡^in., and the circumference of the chest was 11 in.During this initial stay in hospital crepitations were audible in all areas of the chest ; but the baby was not in any distress, and the chest x-ray was clear. The main problem was the baby's failure to make satisfactory progress, and on discharge at eight weeks of age his weight was still only 6 lb. 2i^oz. (about 2,792 gm.). During this time he received 2^3 oz. of Carnation milk in his formula and one teaspoonful of Infantai * daily. No other vitamin D supplements were given.He was readmitted at three months of age, weighing 7 lb. (about 3,175 gm.). No history of vitamin D intake at home was available, and on his second admission his only addition to his formula was one teaspoonful of Infantai daily. At this time he was described as a miserable, scrawny, pale, and underweight baby. The head circumference was 14 in., and the skull was elongated, soft to palpation, and could be indented like a Ping-pong ball over the occiput.No adventitious chest sounds were now present, and no cardiac murmurs were heard. The abdomen was markedly distended, and the liver was slightly enlarged. The spleen was not felt, and there were no masses.The hemoglobin was 11.3 gm. with 12,050 leu¬ kocytes, of which 30% were neutrophils, 68% lymphocytes, and 2% eosinophils. The BUN was 12 mg. per milliliter. The serum calcium was 9 mEq. per liter and the inorganic phosphate 2.3 mEq. per liter. The alkaline phosphatase was 7.7 Bodansky units. The serum sodium was 118 mEq. per liter and the potassium 5.2 mEq. per liter. The total protein was 7.5 gm/100 ml with 3.5 gm. albumin and 4.0 gm. globulin. Urinalysis was negative for sugar and albumin.A tuberculin patch test was negative, and the electrocardiograph pattern was within normal limits.When the baby was four months of age the serum calcium was 10 mEq. per liter, but several determi-A polyvitamin supplement (Horner) containing 0.00014 vitamin D in 5 cc.

Primary hyperparathyroidism

“…Some cases in neonates are referred to in the section dealing with familial hyperparathyroidism. Randall and Lanchlon (1963) reported the case of an infant with diffuse hyperplasia of the parathyroid glands, and having a clinical and histological picture which differed somewhat from that usually seen in children. The child, who was mentally retarded, deaf, and dumb, and was admitted to hospital soon after birth, was miserable and underweight.…”

In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia.

“…Marx et al suggested in 1982 that some cases of NHPT might be the homozygous form of FBHH, because children with NHPT were encountered in families with both parents affected by FBHH (3). However, NHPT has also been noted in cases where only one parent had clinically apparent FBHH (3,7,(14)(15)(16)(17)(18), and many further cases of NHPT appear to be sporadic, with both parents being normocalcemic (1,(19)(20)(21)(22)(23)(24)(25)(26). Thus the nature of the genetic defect and how it produces two different hypercalcemic syndromes was obscure.…”

Primary Hyperparathyroidism in Childhood

“…Primary hyperparathyroidism in childhood (PHPC) may be encountered both in infants and children, but the disease seems most frequent in the pre-adolescent and adolescent age group. Including some doubtful cases, 12 of the reported patients are infants (1,4,6,7,14,18,19,20), 2 of these were brothers with symptoms starting in the neonatal period (9). PHPC is more common among males than females (ratio 3 : 2).…”