Diagnostic Dilemma

Hyperpigmentation with hypoglycemia


Author: Pediatric Oncall
Question
A 1½ months old girl born of non-consanguineous marriage at full term presented with uprolling of eyeballs 3 days ago. She had a similar episode on Day 3 of life. There was no fever. Parents had noticed the child was dark-colored since birth. During the 1st episode of convulsion, the child’s blood sugar was 38 mg%. On examination, the child was extremely dark, had a blood pressure of 100//67 on NIBP. There were no dysmorphic features and genitals were normal. Investigations showed blood sugar of 32 mg%.

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