{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T13:54:38Z","timestamp":1791381278850,"version":"4.3.3"},"reference-count":17,"publisher":"BMJ","issue":"10","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,9,20]]},"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:p>\n                    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\n                    <jats:italic>hydroxysteroid 11-beta dehydrogenase 2<\/jats:italic>\n                    gene confirmed a diagnosis of 11\u03b2-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.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2026-273050","type":"journal-article","created":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T13:15:29Z","timestamp":1791378929000},"page":"e273050","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Facial nerve palsy and hypertension; unusual presentation of apparent mineralocorticoid excess (AME) syndrome in a paediatric patient"],"prefix":"10.1136","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4047-6946","authenticated-orcid":false,"given":"Shama","family":"Jawed","sequence":"first","affiliation":[{"name":"Paediatric, Cork University Hospital, Cork, Ireland"},{"name":"Paediatrics, Children\u2019s Health Ireland at Crumlin, Crumlin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-6191-9909","authenticated-orcid":false,"given":"Brandon","family":"Daffue","sequence":"additional","affiliation":[{"name":"Paediatric Registrar, Cork University Hospital, Cork, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Riordan","sequence":"additional","affiliation":[{"name":"Consultant Paediatric Nephrologist, Children\u2019s Health Ireland, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frances","family":"Enright","sequence":"additional","affiliation":[{"name":"Consultant Paediatrician, Cork University Hospital, Cork, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,10,7]]},"reference":[{"key":"2026100706151899000_19.10.e273050.1","doi-asserted-by":"crossref","first-page":"101948","DOI":"10.1016\/j.cegh.2025.101948","article-title":"Alarming rise in prevalence of obesity among children with essential hypertension: Reflection of larger global epidemiological change of adolescent nutritional status","volume":"32","author":"Gundeti","year":"2025","journal-title":"Clin Epidemiol Glob Health"},{"key":"2026100706151899000_19.10.e273050.2","article-title":"Healthcare resource utilisation and costs associated with hypertension in children and adolescents: a population-based cohort study","volume":"48","author":"Hussain","year":"2025","journal-title":"Lancet Reg Health Am"},{"key":"2026100706151899000_19.10.e273050.3","doi-asserted-by":"crossref","DOI":"10.1542\/peds.2017-1904","article-title":"Clinical Practice Guideline for Screening and Management of High Blood Pressure in Children and Adolescents","volume":"140","author":"Flynn","year":"2017","journal-title":"Pediatrics"},{"key":"2026100706151899000_19.10.e273050.4","unstructured":"Orphanet: apparent mineralocorticoid excess. Available: http:\/\/www.orpha.net\/en\/disease\/detail\/320 [Accessed 12 May 2025]."},{"key":"2026100706151899000_19.10.e273050.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2009.10.017"},{"key":"2026100706151899000_19.10.e273050.6","doi-asserted-by":"crossref","DOI":"10.1007\/s11906-017-0797-z","article-title":"11\u03b2-Hydroxysteroid Dehydrogenases and Hypertension in the Metabolic Syndrome","volume":"19","author":"Bailey","year":"2017","journal-title":"Curr Hypertens Rep"},{"key":"2026100706151899000_19.10.e273050.7","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1716621115"},{"key":"2026100706151899000_19.10.e273050.8","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1515\/jpem-2012-0113","article-title":"Apparent mineralocorticoid excess syndrome: report of one family with three affected children","volume":"25","author":"Al-Harbi","year":"2012","journal-title":"J Pediatr Endocrinol Metab"},{"key":"2026100706151899000_19.10.e273050.9","doi-asserted-by":"publisher","DOI":"10.1093\/ajh\/hps045"},{"key":"2026100706151899000_19.10.e273050.10","doi-asserted-by":"publisher","DOI":"10.1136\/adc.84.4.286"},{"key":"2026100706151899000_19.10.e273050.11","unstructured":"Papadopoulou-Marketou N , Vaidya A , Dluhy R , et al . Hyperaldosteronism. In: Feingold KR , Adler RA , Ahmed SF , et al ., eds. Endotext. South Dartmouth (MA): MDText.com, Inc, 2000."},{"key":"2026100706151899000_19.10.e273050.12","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.10330818"},{"key":"2026100706151899000_19.10.e273050.13","doi-asserted-by":"crossref","unstructured":"Lu Y , Zhang D , Zhang Q , et al . Apparent mineralocorticoid excess: comprehensive overview of molecular genetics. 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