Key result
Severe paediatric hypertension presenting with facial palsy reveals rare apparent mineralocorticoid excess syndrome.
Why the study?
Facial nerve palsy as a presentation of severe hypertension due to apparent mineralocorticoid excess syndrome in a pediatric patient is rare and requires urgent multidisciplinary care.
Case Report (n=1)
This case highlights the importance of a step-by-step diagnostic approach to severe paediatric hypertension, particularly when presenting with unusual signs such as facial palsy, to uncover rare monogenic causes.
May prompt genetic evaluation for AME in children with severe hypertension and facial palsy; extends phenotypic spectrum of HSD11B2 variants but remains hypothesis-generating.
We report a rare case of a monogenic form of hypertension where a boy in early childhood presented with a 2-day history of right-sided facial palsy. Severe hypertension was evident with signs of end-organ damage. This report aims to highlight the diagnostic process when a common presentation, such as facial palsy, uncovers a serious and rare underlying condition that demands urgent multidisciplinary care. Further workup revealed that the patient had hypokalaemic metabolic alkalosis with low serum renin and aldosterone levels. His urinary steroid profile was suggestive of Apparent Mineralocorticoid Excess. A homozygous autosomal recessive variant in the hydroxysteroid 11-beta dehydrogenase 2 gene confirmed a diagnosis of 11β-hydroxysteroid dehydrogenase type 2 deficiency. The syndrome has fewer than one hundred cases documented to date, with reversal of the mineralocorticoid effect as the primary treatment. This case highlights the importance of a step-by-step approach to paediatric hypertension and the need for an early urinary steroid profile.
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Jawed et al. (2026) conducted a case report in Apparent Mineralocorticoid Excess (AME) syndrome and severe hypertension (n=1). Severe paediatric hypertension presenting as right-sided facial palsy revealed a rare diagnosis of Apparent Mineralocorticoid Excess syndrome confirmed by a homozygous HSD11B2 gene variant.
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