ArticleChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2009
Diagnostic challenges in a child with familial hemophagocytic lymphohistiocytosis type 3 (FHLH3) presenting with fulminant neurological disease.
Article in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 24 citations in OpenAlex.
- Functional role of UNC13D in immune diseases and its therapeutic applications.Frontiers in immunology · 2024Review
- Central Nervous System Involvement in Hemophagocytic Lymphohistiocytosis in Adults: A Retrospective Analysis of 96 Patients in a Single Center.Chinese medical journal · 2018Article
- Late-Onset Non-HLH Presentations of Growth Arrest, Inflammatory Arachnoiditis, and Severe Infectious Mononucleosis, in Siblings with Hypomorphic Defects inFrontiers in immunology · 2017Article
- Two Brothers with AtypicalFrontiers in immunology · 2017Article
- Progressive neurologic disorder: Initial manifestation of hemophagocytic lymphohistiocytosis.Neurology · 2016Article
- Direct Reversible Kidney Injury in Familial Hemophagocytic Lymphohistiocytosis Type 3.Journal of the American Society of Nephrology : JASN · 2015Article
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7 authors at 4 institutions in 1 country.
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Abstract
backgroundFamilial hemophagocytic lymphohistiocytosis (FHLH) is an autosomal recessively inherited multisystem disease characterized by fever, rash, splenomegaly, cytopenias, and variable central nervous system (CNS) manifestations. CASE HISTORY: We report the case of a 3-year-old boy who presented with splenomegaly and normocytic anemia 4 months after returning to the US from a region endemic for Leishmania infection. The child later developed progressive neurological impairment and had radiologic evidence of widespread demyelinating disease. Gene studies showed homozygosity for a mutation at Munc13-4, confirming FHLH type 3. DISCUSSION: The diagnostic uncertainty that accompanies FHLH was compounded by our patient's travel history and CNS disease mimicking acute disseminated encephalomyelitis (ADEM). Diagnostic criteria for hemophagocytic lymphohistiocytosis were not consistently met, despite aggressive disease.
conclusionsFHLH may present with fulminant demyelinating disease, mimicking ADEM, and without necessarily meeting previously defined clinical and laboratory criteria. We strongly recommend expeditious molecular testing and genetic counseling for FHLH mutations in cases of undiagnosed inflammatory CNS disease in the pediatric population.
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