Linfohistiocitosis hemofagocítica familiar: hallazgos neurorradiológicos

Abellán, Ernesto Doménech; Pino, Miguel Ángel López; Muñiz, I. Solís; Esparza, Elena García

doi:10.1016/j.rx.2009.10.001

Cited by 4 publications

(1 citation statement)

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“…The cerebrospinal fluid is abnormal in 50% of HLH patients with findings of pleocytosis, elevated protein, and/or haemophagocytosis. Magnetic resonance imaging findings are variable, ranging from discrete lesions to diffuse leptomeningeal enhancement or global oedema (Goo & Weon, 2007;Decaminada et al, 2010;Domenech Abellan et al, 2010). Retinal haemorrhages, swelling of the optic nerve and infiltration of the choroid have been reported in infants with HLH.…”

Section: Neurological Manifestationsmentioning

confidence: 99%

Advances in understanding the pathogenesis of HLH

Usmani¹,

2013

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Haemophagocytic lymphohistiocytosis (HLH) is a hyperinflammatory disorder resulting from immune dysfunction reflecting either primary immune deficiency or acquired failure of normal immune homeostasis. Familial HLH includes autosomal recessive and X-linked disorders characterized by uncontrolled activation of T cells and macrophages and overproduction of inflammatory cytokines, secondary to defects in genes encoding proteins involved in granule-dependent cytolytic pathways. In older children and adults, HLH is associated more often with infections, malignancies, autoimmune diseases, and acquired immune deficiencies. HLH, macrophage activation syndrome, sepsis, and systemic inflammatory response syndrome are different clinical entities that probably represent a common immunopathological state, termed cytokine storm. These conditions may be clinically indistinguishable; all include massive inflammatory response, elevated serum cytokine levels, multi-organ involvement, haemophagocytic macrophages, and often death. Tissues of haematopoietic and lymphoid function are directly involved; other organs are secondarily damaged by circulating cytokines and chemokines. Haemophagocytic disorders are now increasingly diagnosed in the context of severe inflammatory reactions to viruses, malignancies and systemic connective tissue diseases. Many of these cases may reflect underlying genetic predispositions to HLH. The detection of gene defects has contributed considerably to our understanding of HLH, but the mechanisms leading to acquired HLH have yet to be fully determined

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Section: Neurological Manifestationsmentioning

confidence: 99%