Diagnostic Dilemma

Hyperpigmentation with hypoglycemia

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%.

What is the likely etiology?
Expert Opinion :
The child has 2 episodes of hypoglycemia associated with hyperpigmented skin. Thus one must consider Addison’s disease or hypocortisolism in this child. It is unlikely to be congenital adrenal hyperplasia as there is no blood pressure abnormality, dehydration or ambiguous genitalia. The serum cortisol in this child was undetectable (<1mcg/dl, normal 5-25 mcg/dl) and serum ACTH was elevated to ten times normal value (664pg/ml, normal 10-85pg/ml). Thus, the diagnosis was confirmed to be a primary adrenal insufficiency. Her CT adrenals were normal. Her serum cholesterol was 116mg/dl ruling out Wolman’s disease.
Answer Discussion :
shreedhar khanal
should rule out CAH
4 years ago
Narendranath Reddy
adrenocortical insufficiency
4 years ago

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