A patient with recurrent convulsions in childhood and associated ketotic hypoglycaemia is described. Hypoglycaemic attacks started at the age of 3 years and 4 months and continued until 9. At present (aged 15) the patient is mentally retarded, has epilepsy, high tone deafness and a major behaviour disturbance. Prednisone therapy failed to prevent hypoglycaemic convulsions and eventually irreversible brain damage. Intramuscular glucagon and adrenaline were ineffective in raising the blood glucose during acute hypoglycaemic attacks.
Investigations at 3 years and 7 months and at 14 years showed a persistent and markedly abnormal sensitivity to a small dose of exogenous insulin with severe hypoglycaemia with convulsions, absence of clinical hyperadrenalism during hypoglycaemia, and a metabolic block in gluconeogenesis. The demonstration of a persistent biochemical abnormality of glucose metabolism at the age of 14 strongly suggests that ketotic hypoglycaemia of childhood is not another aspect of nutritional deprivation, as recently suggested (Buist, 1974), but the result of a defect in glucose homeostasis.
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