A Rare Case of Glycogen Storage Disease Type 1a Presenting with Hemophagocytic Lymphohistiocytosis (HLH).

Hedyeh Saneifard Bibishahin Shamsian Marjan Shakiba Simin Karizi Zarea Ali Sheikhy

Published in: Case reports in pediatrics (2020)

Metabolic diseases are one of the severe causes of secondary HLH in infants; hence, complete metabolic assessment is mandatory in these patients, and GSD must be included in the differential diagnosis of HLH metabolic causes.

Keyphrases

rare case
end stage renal disease
newly diagnosed
ejection fraction
prognostic factors
peritoneal dialysis
early onset
case report