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Central nervous system involvement in Turkish children with primary hemophagocytic lymphohistiocytosis
Aytemiz Gurgey1, Selin Aytac, Gunay Balta
1Department of Pediatric Hematology, Hacettepe University, Ankara, Turkey. agurgey@hacettepe.edu.tr
Insights
Primary hemophagocytic lymphohistiocytosis (HLH) with central nervous system (CNS) involvement presents unique diagnostic challenges. Patients with CNS involvement showed higher age and sodium levels, and lower liver enzyme levels at diagnosis compared to those without CNS involvement.
Area of Science:
- Pediatric Hematology
- Neurology
- Immunology
Background:
- Primary hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening hyperinflammatory syndrome.
- Central nervous system (CNS) involvement in HLH can complicate diagnosis and treatment.
- Understanding clinical and laboratory differences in HLH with and without CNS involvement is crucial for timely intervention.
Purpose of the Study:
- To compare clinical and laboratory findings between primary HLH patients with CNS involvement and those without.
- To identify potential diagnostic markers for CNS involvement in HLH.
- To highlight diagnostic challenges, including initial misdiagnosis.
Main Methods:
- Retrospective analysis of clinical and laboratory data from 15 primary HLH patients with CNS involvement (group 1) and 13 without CNS involvement (group 2).
- Statistical comparison of demographic, clinical, and laboratory parameters between the two groups.
- Evaluation of diagnostic pathways and initial misdiagnoses.
Main Results:
- Patients with CNS involvement (group 1) were significantly older at diagnosis and had higher serum sodium levels compared to group 2.
- Group 1 patients exhibited significantly lower alanine aminotransferase and bilirubin levels than group 2.
- No significant differences were observed in other clinical, laboratory, or overall survival parameters between the groups.
Conclusions:
- Age and serum sodium levels at diagnosis may serve as indicators for CNS involvement in primary HLH.
- Lower liver enzyme levels in CNS-involved HLH warrant further investigation.
- Early CNS manifestations of HLH can mimic other neurological disorders, leading to delayed diagnosis.
Abstract:
This report mainly presents the clinical and laboratory findings in a group of 15 primary hemophagocytic lymphohistiocytosis patients with central nervous system involvement (group 1) and compares some of the findings with those of 13 hemophagocytic lymphohistiocytosis patients without central nervous system involvement (group 2). Statistical analysis showed that age and sodium level at diagnosis were significantly higher while alanine aminotransferase and bilirubin levels were significantly lower in group 1 than group 2 (P < .05). There were no statistically significant differences between the 2 groups in the other clinical, laboratory, and overall survival parameters. Three patients in group 1 initially had central nervous system involvement in the absence of systemic findings, which led to the initial misdiagnosis of these patients as central nervous system disorders other than hemophagocytic lymphohistiocytosis.
