Immune dysregulation syndrome associated with inborn errors of metabolism – hemophagocytic lymphohistiocytosis in the context of isovaleric acidemia: a case report - Scorecard - MDSpire
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Immune dysregulation syndrome associated with inborn errors of metabolism – hemophagocytic lymphohistiocytosis in the context of isovaleric acidemia: a case report
Clinical Scorecard: Immune Dysregulation Disorders Linked to Metabolic Inborn Errors: A Case of Hemophagocytic Lymphohistiocytosis in Isovaleric Acidemia
At a Glance
Category
Detail
Condition
Hemophagocytic Lymphohistiocytosis (HLH)
Key Mechanisms
Uncontrolled macrophage and cytotoxic T-lymphocyte activation leading to multiorgan failure.
Target Population
Pediatric patients, particularly those with underlying metabolic disorders.
Care Setting
Pediatric critical care units.
Key Highlights
HLH can be triggered by metabolic disorders, often overlooked in diagnosis.
The case involved an 18-month-old boy with HLH fulfilling seven of the eight HLH-2004 criteria.
Identification of a pathogenic variant in the IVD gene confirmed isovaleric acidemia.
Concurrent infections with adenovirus and parainfluenza virus type III complicated the clinical picture.
HLH may signal an underlying metabolic or genetic condition requiring specific attention.
Guideline-Based Recommendations
Diagnosis
Utilize HLH-2004 criteria for diagnosis, requiring ≥ 5 of 8 criteria.
Management
Implement intensive care management and immunomodulation for HLH.
Monitoring & Follow-up
Monitor for signs of metabolic decompensation and systemic inflammation.
Risks
Secondary HLH can occur due to viral infections, malignancies, or autoimmune diseases.
Patient & Prescribing Data
Pediatric patients with HLH and potential underlying metabolic disorders.
Management should include tailored strategies addressing both HLH and the underlying metabolic condition.
Clinical Best Practices
Consider metabolic disorders in differential diagnosis of HLH.
Conduct comprehensive genetic analysis in cases of HLH with family history of similar presentations.
Utilize multimodal diagnostic workup including serological, immunological, and microbiological studies.
Children exposed to higher-dose prenatal vitamin D scored modestly higher on verbal and visual memory tests at age 10 years, although overall intelligence and most cognitive measures did not differ significantly.
