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Hemophagocytic Lymphohystiocytosis Associated With Type Ia Glycogen Storage Disease
Yeter Düzenli Kar1, Zeynep C Özdemir1, Eylem Kiral2
1Division of Pediatric Hematology/Oncology.
Insights
Hemophagocytic lymphohistiocytosis (HLH) can mimic metabolic disorders. A rare case highlights glycogen storage disease type Ia (GSD Ia) as a potential cause of HLH in infants, emphasizing the need for metabolic screening.
Area of Science:
- Pediatrics
- Genetics
- Metabolic Disorders
Background:
- Hemophagocytic lymphohistiocytosis (HLH) presents with fever, splenomegaly, pancytopenia, and abnormal lipid and iron levels.
- HLH symptoms overlap with various metabolic diseases, complicating diagnosis.
Observation:
- An infant diagnosed with HLH showed rapid improvement with chemotherapy but persistent hepatomegaly and hypoglycemia.
- Genetic testing excluded familial HLH, while a family history of glycogen storage disease (GSD) suggested an alternative diagnosis.
- The infant was ultimately diagnosed with GSD type Ia, a condition not previously linked to secondary HLH.
Findings:
- This case represents the first reported instance of HLH secondary to GSD type Ia.
- The clinical presentation underscores the diagnostic challenges when HLH symptoms overlap with metabolic derangements.
Implications:
- Congenital metabolic diseases, particularly GSD Ia, should be considered in the differential diagnosis of infants presenting with HLH.
- Early recognition and metabolic investigation are crucial for accurate diagnosis and appropriate management of HLH in pediatric patients.
Background:
Hemophagocytic lymphohystiocytosis (HLH) is characterized by fever, splenomegaly, pancytopenia, and elevated levels of triglycerides and ferritin. These signs and symptoms are common to other metabolic diseases.
Observation:
A 5-month-old female infant, who presented with fever, respiratory distress, massive hepatomegaly, and bicytopenia, was diagnosed as having HLH and chemotherapy was initiated. The patient was negative for familial HLH gene mutations. Respiratory distress and laboratory findings improved rapidly after starting chemotherapy. However, there was no improvement in the massive hepatomegaly and she experienced hypoglycemic episodes. In addition, her family history included a cousin with glycogen storage disease (GSD). On the basis of the findings, the patient was diagnosed as having type Ia GSD. There are no previous reports of HLH secondary to GSD type Ia in the literature.
Conclusions:
Congenital metabolic diseases should be considered in the differential diagnosis of children with HLH.
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