Resumen

LEDESMA-PORRAS, Yesenia et al. Late diagnosis of glycogen storage disease type IXc in a child from a vulnerable rural population. A case report. Pediatr. (Asunción) [online]. 2026, vol.53, n.1, pp.105-110. ISSN 1683-9803.  https://doi.org/10.31698/ped.53012026014.

Glycogen storage disease type IXc is an autosomal recessive metabolic disorder caused by a variant in the PHKG2 gene. It presents during childhood with hepatomegaly, fasting hypoglycemia, and growth retardation. Early diagnosis is essential to avoid complications and unnecessary invasive procedures. We describe the case of a 7-year-old male patient from a rural area of ​​Peru who presented with hepatosplenomegaly from the first months of life. He was initially misdiagnosed with liver neoplasia. After several years without a definitive diagnosis, a genetic panel confirmed glycogen storage disease type IXc, allowing for the initiation of specific treatment with raw corn starch from Zea mays, known locally as maizena cruda. This case highlights the urgent need to strengthen diagnostic capabilities in peripheral regions for rare diseases, preventing misdiagnoses and reducing health inequities.

Palabras clave : Glycogen storage disease; child; vulnerable populations; hypoglycemia; hepatomegaly.

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