Glycogen storage disorder-mimicking presentation of X-linked lymphoproliferative syndrome (XLP)

Area of Science:

• Pediatric Hematology
• Rare Genetic Disorders
• Immunology

Background:

• Infants can present with symptoms overlapping between metabolic and immune disorders.
• Glycogen storage disease type I (GSD I) and haemophagocytic lymphohistiocytosis (HLH) share clinical features like hepatomegaly.
• Accurate diagnosis is crucial for appropriate management of life-threatening conditions in infants.

Purpose of the Study:

• To highlight a case of misdiagnosis in an infant with overlapping clinical presentations.
• To emphasize the importance of genetic testing in differentiating metabolic from immune disorders.
• To present a case of X-linked lymphoproliferative syndrome presenting as HLH.

Main Methods:

• Clinical presentation analysis of an infant with hepatomegaly and metabolic derangements.
• Differential diagnosis including Glycogen Storage Disease Type I.
• Genetic testing to identify pathogenic mutations.
• Diagnostic confirmation of haemophagocytic lymphohistiocytosis.

Main Results:

• Initial symptoms mimicked Glycogen Storage Disease Type I.
• Genetic analysis revealed a mutation linked to X-linked lymphoproliferative syndrome.
• The patient was diagnosed with haemophagocytic lymphohistiocytosis, not GSD I.
• Treatment with immunosuppression was initiated.

Conclusions:

• Clinical suspicion and comprehensive genetic evaluation are vital for diagnosing rare pediatric conditions.
• X-linked lymphoproliferative syndrome can present atypically, mimicking metabolic disorders.
• Timely diagnosis and treatment of HLH are critical for patient outcomes.