GELLER SYNDROME

A RARE CASE OF HYPOKALAEMIA IN PREGNANCY

Abstract

INTRODUCTION/BACKGROUND
Geller syndrome was first described by David S. Geller in 2000. The disease is rare with only a few cases reported and has an autosomal dominant pathway causing a mutation of mineralocorticoid receptor (MR) S108L. As a result, progesterone which normally antagonises the MR, now acts as a potent agonist due to the mutation. The typical manifestations are hypokalaemia with low aldosterone and renin level along with hypertension which becomes prominent during later stage of pregnancy due to progesterone effect on the mutated receptor.

CASE
Our patient was a 26-year-old unbooked gravida 3 para 2 at 27 weeks of gestation, presenting with hypertension and bilateral lower limb weakness. She had occasional vomiting but denied having diarrhea. She also had persistent tachycardia and profound, symptomatic, refractory hypokalaemia while in the ICU. Further history revealed a similar presentation of hypokalaemia with significant lower limbs weakness during her first pregnancy ten years prior which resolved spontaneously after delivery. Geller syndrome was given as the possible diagnosis but thyrotoxic periodic paralysis was also suspected. Labour was induced as the foetus expired in-utero. She was treated with potassium corrections and carbimazole together with hydrocortisone and broad-spectrum antibiotics. However, her condition deteriorated due to a nosocomial infection despite the resolution of hypokalaemia. She eventually succumbed on day 7 of admission due to severe sepsis.

CONCLUSION
Pregnancy-induced hypokalaemia from an activating MR mutation has rarely been reported. This is the first likely Geller’s syndrome based on the history and presentation reported in the country. Prompt recognition is crucial to prevent serious complications to both mother and foetus from hypokalaemia and hypertension. As the hypokalaemia and hypertension resolve postpartum, supportive management during pregnancy is necessary. Otherwise, no specific treatment is warranted.