{
  "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.",
  "authors": [
    {
      "affiliations": [
        "Central University of Punjab, Bathinda, PB, India"
      ],
      "name": "Ajay Elangovan"
    },
    {
      "affiliations": [
        "Pediatrics, AIIMS Bathinda, Bathinda, India"
      ],
      "name": "Archa Bali"
    },
    {
      "affiliations": [
        "Central University of Punjab, Bathinda, PB, India"
      ],
      "name": "Balachandar Vellingiri"
    },
    {
      "affiliations": [
        "Pediatrics, AIIMS Bathinda, Bathinda, India"
      ],
      "name": "Arvinder Wander"
    }
  ],
  "title": "Glycogen storage disorder—mimicking presentation of X-linked lymphoproliferative syndrome (XLP)",
  "uid": "ea4e7024-3ed7-5185-b362-96a9e9625742"
}