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Haemophagocytic lymphohistiocytosis (HLH), also called haemophagocytic syndrome (HPS), is a rare disorder resulting in abnormal proliferation of histiocytes in tissues and organs, including the CNS. HLH can present as a primary disease or occur as a secondary reactive disease. Clinical features are high fever, splenomegaly, cytopenia of two or more cell lines, hypertriglyceridaemia and haemophagocytosis.1 CNS involvement varies between 10% and 73%, and clinical manifestations include seizures, decreased sensorium, brainstem symptoms, ataxia or demyelinating peripheral neuropathy.2
A 17-year-old woman, with an unremarkable medical history, was admitted to our hospital with persistent fever for 3 weeks (38–40°C), asthenia, anorexia and myalgias. During the preceding weeks no antibiotic had been started. On examination she was somnolent and when asked to follow a finger she had uncontrolled eccentric eye deviation, left and upwards, lasting for a few seconds and repeated every time this stimulus was presented. There was no behavioural or thought disorder and examination was otherwise normal, without dystonias or meningeal signs. Her body temperature was 38°C and she was haemodynamically stable. The first laboratory investigation disclosed a bicytopenia (normocytic normochromic anaemia, haemoglobin 8.4 g/dl; leucopenia with lymphopenia 2640/330 cell/μl), normal platelets, slightly elevated hepatic and cholestasis enzymes with normal bilirrubin, elevated DHL (1462 U/l) and C reactive protein (89.4 mg/l). Abdominal ultrasound revealed discrete homogenous splenomegaly and hepatomegaly (19 cm). The CT scan showed …
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