Abstract
A case of hypoglycemia associated with ketosis and overt CNS abnormalities was reported and the significance of such association was discussed with regard to the pathogenesis of hypoglycemia. A boy aged 4 years and 1 month on admission showed severe psychomotor retardation, epilepsy, large and long head, multiple minor anomalies, generalized hypotonia, hyperelasticity of joints and skin, horizontal nystagmus and radiologically enlarged cavum septi pellucidi. He suffered from several attacks of fasting ketotic hypoglycemia in the past and was also reported to have had a transient hypoglycemia in the neonatal period. A significant drop of blood sugar, ketonuria and characteristic clinical signs and symptoms of hypoglycemia were provocated by ketogenic diet loading test as described by Colle and Ulstrom. There was no response of blood sugar to glucagon administration after 19.5 hours of the provocative diet.
The findings described above can satisfy the conventional diagnostic criteria of “ketotic hypoglycemia” reasonably well.However, there were some additional clinical and biochemical features in this patient.He had profound psychomotor retardation and multiple congenital anomalies including brain midline anomalies, and meticulous endocrinological loading tests such as insulin loading test, glucagonpropranolol test, arginine test, l-DOPA test, metyrapone test revealed hyporesponsiveness of pituitary gland to secrete growth hormone and ACTH.The authors concluded that in this case the cerebral impairment of prenatal origin contributed to the neonatal hypoglycemia and the later recurrence of episodes of hypoglycemia associated with ketosis through the hypothalamopituitary dysfunction under some stressful conditions.
