Denouement and Discussion
In this condition there is profound emaciation which has its onset usually during the first year of life and has no correlation with caloric intake. Vomiting may be a presenting symptom. A marked loss of subcutaneous tissue is a striking feature. Many of these patients have been reported to be euphoric, overaffectionate, and show none of the natural shyness usually found at this age. This type of behavior in the presence of severe wasting is most suggestive of the condition. Neurologic signs may be completely absent and if present, tremor and nystagmus are found. As the disease progresses, the patient may develop an ataxic gait or purposeless weaving movements of the extremities. Pallor, but without anemia, may be an outstanding finding. Increased perspiration, polyuria, hypoglycemia, and hypotension have been reported. Most patients die during the second or third year of life.