ABSTRACT
BACKGROUND: Familial hemophagocytic lymphohistiocytosis (HLH) is a fatal disease affecting infants and very young children. Central nervous system involvement of HLH can cause catastrophic results. METHOD: We present a case with cranial involvement of familial HLH type 4 who showed diffuse infiltration of white matter complicated with intracranial thrombosis. A 5-year-old girl from a consanguineous couple presented with fever and pancytopenia, and was referred to our hematology unit. Examination revealed fever, lymphadenopathy, and hepatosplenomegaly. Ultrasound examination revealed hepatosplenomegaly and free intra-abdominal fluid. HLH was revealed on bone marrow aspiration biopsy. Defective natural killer and T lymphocyte cytotoxicity using degranulation tests was determined. In the genetic analysis, syntaxin gene mutation was found. On T2-weighted and T2-fluid-attenuated inversion recovery magnetic resonance imaging (MRI), diffuse hyperintense signal changes of cerebral white matter, indicating white matter demyelination, were observed. A second brain MRI showed an acute infarct involving the left temporooccipital region. Immunosuppressive therapy according to the HLH 2004 protocol was started. The infarct resolved but white matter lesions were stable on the brain MRI that was performed 1 month later. Brain MRI taken 4 months after the first examination showed stable cerebral white matter lesions, but hyperintense signal changes appeared in the cerebellar white matter and were regarded as progression. The patient died because of infection despite immunosuppressive therapy. CONCLUSIONS: Physicians managing patients with HLH must be vigilant about the possibility of central nervous system involvement including stroke.
Subject(s)
Central Nervous System Diseases/complications , Infarction/etiology , Lymphohistiocytosis, Hemophagocytic/pathology , Child, Preschool , Disease Progression , Fatal Outcome , Female , Humans , Intracranial Thrombosis/etiology , Leukoencephalopathies/etiology , Leukoencephalopathies/pathology , Lymphohistiocytosis, Hemophagocytic/complications , Magnetic Resonance Imaging/methodsABSTRACT
OBJECTIVE: This study analyzes the clinical and laboratory findings of children with primary hemophagocytic lymphohistiocytosis (HLH) followed in various referral centers of Turkey. METHODS: A simple three-page questionnaire prepared by the Turkish Histiocyte Study Group was used for documentation of patient data. RESULTS: Age at diagnosis varied from 0.6 to 78 months (median±SD, 16.5±26.1). Sex distribution was almost equal (F/M=10/12). The frequencies of parental consanguinity and sibling death in the family history were 100% and 81.1%, respectively. The most common clinical findings were hepatomegaly (100%) and fever (95%). The most common laboratory findings were anemia (100%), hyperferritinemia (100%) and thrombocytopenia (90.9%). Triglyceride and total bilirubin levels in the deceased versus surviving group appear to be high (triglyceride: 394±183 mg/dl, 289±7 mg/dl; total bilirubin: 2.7±6.9 mg/dl, 0.5±1.2 mg/dl, respectively). CONCLUSION: We concluded that fever, hepatosplenomegaly, anemia, thrombocytopenia, and hyperferritinemia are the most common clinical and laboratory findings in primary HLH. Increased triglyceride and total bilirubin level at the time of diagnosis might be an indicator of poor prognosis in HLH.
