Case report: malignant hypertension associated with catecholamine excess in a patient with Leigh syndrome.

ABSTRACT:

Background

Leigh syndrome is a progressive neurodegenerative mitochondrial disorder caused by multiple genetic etiologies with multisystemic involvement that mostly affecting the central nervous system with high rate of premature mortality.

Case presentation

We present a 3-year, 10 month-old female patient with Leigh syndrome complicated by renal tubular acidosis, hypertension, gross motor delay, who presented with hypertensive emergency, persistent tachycardia, insomnia and irritability. Her previous genetic workup revealed a pathogenic variant in the MT-ND5 gene designated as m.13513G > A;p.Asp393Asn with a heteroplasmy of 69%. She presented acutely with malignant hypertension requiring intensive care unit admission. Her acute evaluation revealed elevated serum and urine c

SUBMITTER: Solis A 

PROVIDER: S-EPMC9976414 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature