Pseudohypoparathyroidism; report of a case in a sixteen-month-old girl.

Abstract

INTRODUCTION IN THE year 1942, Albright, Burnett, Smith, and Parson1first reported three cases of pseudohypoparathyroidism which they termed Seabright Bantam syndrome because of the end-organ apparently being refractory to endocrine stimulation. This is a relatively rare condition. There are about 16 cases reported in the literature.* This report is Case 17 and is the youngest on record. The syndrome is characterized by (1) hypocalcemia, (2) hyperphosphatemia, (3) manifestations of tetany, and (4) calcium deposits in the basal ganglia and subcutaneous tissue.14In this condition, biopsy shows normal parathyroid tissue and the patients fail to respond to parathyroid extract. Clinically, the patient demonstrates a moon-shaped face, strabismus, short neck, brachydactylia due to early fusion of the metacarpals, obesity, and short stature. Respiratory symptoms, tetany, or other central nervous system manifestations may be present. Mental retardation is a common problem. The differential diagnosis must include Mongolism and cretinism. REPORT