PS-R06-7: CAUDAL REGRESSION SYNDROME AS A CAUSE OF SECONDARY HYPERTENSION

Abstract

Hypertension (HT) is a disease with a mainly multifactorial etiology. Although monogenic, embryological, epigenetic causes are rare and the interdisciplinary approach is essential to arrive at the diagnosis. We present the case of a 22-year-old patient with a history of congenital myelomeningocele and daughter of non-consanguineous parents, hospitalized for a hypertensive crisis (220/112 mmHg). It is referred to rule out genetic causes of hypertension. The genealogy shows a history of hypertension and ischaemic heart disease in both parental lines, in two previous generations. Physical examination revealed bilateral pes cavus in the lower limbs, edema, and overlapping of the second toe over the first toe on the left foot. She presented calf atrophy and incontinence, with the use of a bladder catheter and a continent stoma, as post-surgical sequelae. As a relevant finding, elevated aldosterone and plasma renin activity. Normal blood and urine catecholamines, VMA and normetanephrines. MRI of the abdomen and pelvis revealed a double left renal artery corroborated by CT angiography, a right extrarenal pelvis and a bicornuate uterus of normal size. Doppler of renal arteries showed no signs of significant stenosis. Right renal artery 43 cm/s and left renal artery 103 cm/s. The patient presents diagnostic criteria compatible with a caudal regression syndrome, a spectrum of clinical phenotypes with malformations in the lower hemibody that involve the 3 embryonic layers. It is postulated that, in this case, the hypertension is secondary to the embryological defect. The patient continues to be medicated with perindopril/indapamide 10/2.5 mg with adequate blood pressure control. JOURNAL/jhype/04.03/00004872-202301001-01322/figure1/v/2023-10-24T163949Z/r/image-jpeg