Patient with H syndrome, cardiogenic shock, multiorgan infiltration, and digital ischemia.

ABSTRACT:

Background

H syndrome (HS) is a rare autoinflammatory disease caused by a mutation in the solute carrier family 29, member 3 (SCL29A3) gene. It has a variable clinical presentation and little phenotype-genotype correlation. The pathognomonic sign of HS is cutaneous hyperpigmentation located mainly in the inner thighs and often accompanied by other systemic manifestations. Improvement after tocilizumab treatment has been reported in a few patients with HS. We report the first patient with HS who presented cardiogenic shock, multiorgan infiltration, and digital ischemia.

Case presentation

8-year-old boy born to consanguineous parents of Moroccan origin who was admitted to the intensive care unit during the Coronavirus Disease-2019 (COVID-19) pandemic with tachypnoea, tachycard

SUBMITTER: Ventura-Espejo L 

PROVIDER: S-EPMC8243620 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature