Similar to the above studies, even testis was not detected in our case and testosterone levels were undetectable. Regarding other features, our patient did not possess any distinctive facial features but has intermittently temperature instability was there which may be because of hypothalamic dysfunction.
Although hyperglycemia is documented in some studies due to presence of ARX gene on pancreas also, our patient had episodes of hypoglycemia whenever he was taken on breast/spoon feeds and remained normoglycemic on intragastric feeds as well as intravenous fluids.
This may be because of the fact that patient was in epileptic encephalopathy and was not able to take feeds properly leading on to hypoglycemia. The prognosis in such patients is poor as per previous studies. Most of them die before the age of 18 months.Īlmost all of the cases were associated with intractable epilepsy and lacked psychomotor development.
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