PSEUDOHYPOPARATHYROIDISM

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Abstract
THIS case is presented because the circumstances provided an unusual opportunity to review and study a rare condition. The child concerned had been diagnosed as having a case of hypothyroidism and epilepsy and the parents had been advised to place her in an institution. The child was referred to the authors in a further effort to obtain relief or advice. CASE HISTORY A 12 yr. old girl was examined because of "incessant talking in a silly, immature fashion; excessive greed for food and salt; lethargy, fatigue, over-affection and clumsiness, awkwardness, inability to skate or ride a bicycle." A year before admission she began to scream in her sleep once or twice every night. Six months later she began to scream during the day. The attacks of screaming occurred suddenly without warning. She abruptly stopped what she was doing, stared ahead and screamed in a loud, hoarse voice for several seconds. Immediately afterward, she was embarrassed and tried to withdraw from the scene. Treatment elsewhere with adequate doses of phenobarbital, tridione, benzedrine, thyroid and pituitary extract had been ineffective. Report of a previous examination at a university clinic was "moderately plump girl with a round face and lethargic appearance. There was narrowing of the right palpebral fissure and mild ataxia of the lower extremities. The physical examination was otherwise unimportant. The IQ was 80." Examination later at a hospital-clinic was reported as "revealing obesity and cretinism in spite of a basal metabolic rate of minus 6 and minus 7." Mother and father are intelligent and the 4 siblings are normal and well-adjusted. There is no history of convulsive disorders or mental disease.

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