Facial nerve palsy and hypertension; unusual presentation of apparent mineralocorticoid excess (AME) syndrome in a paediatric patient.
Shama Jawed, Brandon Daffue, Michael Riordan et al.
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Case in brief
A boy in early childhood presented after two days of right-sided facial palsy and was found to have severe hypertension with end-organ damage. Investigations showed hypokalaemic metabolic alkalosis and low serum renin and aldosterone. His urinary steroid profile suggested apparent mineralocorticoid excess, and genetic testing identified a homozygous autosomal recessive variant in HSD11B2, confirming 11β-hydroxysteroid dehydrogenase type 2 deficiency. The report identifies reversal of the mineralocorticoid effect as the primary treatment; the abstract does not describe the patient’s clinical outcome.
What made this case unusual
Facial palsy was the presenting feature that led to recognition of severe hypertension and an underlying monogenic disorder.
Diagnostic / clinical pearl
In a child with severe hypertension, hypokalaemic metabolic alkalosis and suppressed renin and aldosterone, urinary steroid profiling can help identify apparent mineralocorticoid excess and guide genetic confirmation.