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Presentación del síndrome de linfoproliferación ligada al cromosoma X (XLP) que imita el trastorno de almacenamiento

Ajay Elangovan¹, Archa Bali², Balachandar Vellingiri¹

¹Central University of Punjab, Bathinda, PB, India.

BMJ case reports

|December 31, 2025

Abstract:

This case presents an infant male child who initially presented with clinical features resembling glycogen storage disease type I (GSD I), including hepatomegaly, a doll-like face and metabolic abnormalities. However, further investigations and genetic testing revealed a pathogenic mutation associated with X-linked lymphoproliferative syndrome, leading to a diagnosis of haemophagocytic lymphohistiocytosis. The patient was treated with immunosuppression and is now under consideration for stem cell transplantation.

Palabras clave:

Cribado/asesoramiento genético Pediatría (fármacos y medicamentos)

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