Isolated Central Nervous System Hemophagocytic Lymphohistiocytosis: Case Report

Shinoda, Jun; Murase, S.; Takenaka, Katsunobu; Sakai, Noboru

doi:10.1227/01.neu.0000146210.13318.e8

Cited by 42 publications

(25 citation statements)

References 8 publications

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“…Most previous studies of MRI lesions in patients with HLH consisted of either case series 8,19,20 or case reports, 9,12,[21][22][23][24][25] with no common analysis of MRI and sometimes including patients with CT scans, evaluated children at an older age (median age of 6 months, 13 9 months, 11 and 5 years 19 ), or including both primary and secondary causes of HLH. Although the brain MRI selection criteria (brain MRI less than 6 months) in this study could have induced a bias toward children with clinically suspected CNS involvement, we have observed that initial abnormal neuroradiologic findings at the onset of primary HLH appeared to be relatively infrequent, with 67% of children having a normal cerebral MRI scan at onset (the actual percentage probably could be higher if we also take into account the children who did not undergo MRI during the first 6 months).…”

Section: Discussionmentioning

confidence: 99%

CNS involvement at the onset of primary hemophagocytic lymphohistiocytosis

Deiva¹,

Mahlaoui²,

Beaudonnet³

et al. 2012

Neurology

116

115

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Objectives: To differentiate onset of CNS involvement in primary hemophagocytic lymphohistiocytosis (HLH) from that of other CNS inflammatory diseases and to identify early symptoms linked to abnormal cognitive outcome.Methods: Forty-six children with primary HLH who had neurologic evaluation within 2 weeks and brain MRI within 6 months of diagnosis were included. Initial symptoms, CSF study, brain MRI, and neurologic outcome were assessed. Brain MRIs were compared with those of 44 children with acute disseminated encephalomyelitis (ADEM).Results: At disease onset, 29 children (63%) had neurologic symptoms and 7 (15%) had microcephaly. Twenty-three (50%) children had abnormal CSF study, but only 15 (33%) had abnormal brain MRI. The latter showed that patients with HLH, unlike patients with ADEM, had symmetric periventricular lesions, without thalamic and brainstem involvement and with infrequent hyposignal intensity on T1. At the end of follow-up (3.6 Ϯ 3.6 years), 17 of the 28 (61%) surviving patients had normal neurologic status, 5 (18%) had a severe neurologic outcome, and 6 (21%) had mild cognitive difficulties. Abnormal neurologic outcome was not influenced by age or type of genetic defect, but by the presence of neurologic symptoms, MRI lesions, or abnormal CSF study at onset. Early clinical and MRI symptoms may regress after treatment.Conclusion: Neurologic symptoms are frequent at the onset of primary HLH and are mostly associated with abnormal CSF findings, but with normal brain MRI. In cases of abnormal brain MRI, the observed lesions differ from those of ADEM. Neurology ® 2012;78:1150-1156 GLOSSARY ADEM ϭ acute disseminated encephalomyelitis; CHS ϭ Chediak-Higashi syndrome; CRF ϭ case report form; FHLH ϭ familial hemophagocytic lymphohistiocytosis; FLAIR ϭ fluid-attenuated inversion recovery; GS ϭ Griscelli syndrome; HLH ϭ hemophagocytic lymphohistiocytosis; HPS ϭ Hermansky-Pudlak syndrome; HSCT ϭ hematopoietic stem cell transplantation; MTX ϭ methotrexate; PID ϭ primary immunodeficiencies; SE ϭ spin-echo; WI ϭ weighted image; XLP ϭ X-linked lymphoproliferative syndrome.

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Section: Discussionmentioning

confidence: 99%

CNS involvement at the onset of primary hemophagocytic lymphohistiocytosis

Deiva¹,

Mahlaoui²,

Beaudonnet³

et al. 2012

Neurology

116

115

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“…Finally, isolated CNS involvement, either preceding systemic symptoms or remaining the only manifestation, may present a formidable diagnostic challenge [22,40,66,106].…”

Section: Why Hlh Is Still Overlookedmentioning

confidence: 99%

Familial and acquired hemophagocytic lymphohistiocytosis

2006

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Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening condition of severe hyperinflammation caused by the uncontrolled proliferation of activated lymphocytes and histiocytes secreting high amounts of inflammatory cytokines. Cardinal signs and symptoms are prolonged fever, hepatosplenomegaly and pancytopenia. Characteristic biochemical markers include elevated triglycerides, ferritin and low fibrinogen. HLH occurs on the basis of various inherited or acquired immune deficiencies. Impaired function of natural killer (NK) cells and cytotoxic T-cells (CTL) is shared by all forms of HLH. Genetic HLH occurs in familial forms (FHLH) in which HLH is the primary and only manifestation, and in association with the immune deficiencies Chédiak-Higashi syndrome 1 (CHS 1), Griscelli syndrome 2 (GS 2) and x-linked lymphoproliferative syndrome (XLP), in which HLH is a sporadic event. Most patients with acquired HLH have no known underlying immune deficiency. Both acquired and genetic forms are triggered by infections, mostly viral, or other stimuli. HLH also occurs as a complication of rheumatic diseases (macrophage activation syndrome) and of malignancies. Several genetic defects causing FHLH have recently been discovered and have elucidated the pathophysiology of HLH. The immediate aim of therapy in genetic and acquired HLH is suppression of the severe hyperinflammation, which can be achieved with immunosuppressive/immunomodulatary agents and cytostatic drugs. Patients with genetic forms have to undergo stem cell transplantation to exchange the defective immune system with normally functioning immune effector cells. In conclusion, awareness of the clinical symptoms and of the diagnostic criteria of HLH is crucial in order not to overlook HLH and to start life-saving therapy in time.

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“…In more severe involvement, infiltration extends into the perivascular spaces. In advanced stages, massive tissue infiltration may follow, particularly affecting the white matter, and may result in perifocal gliosis, areas of necrosis and demyelination [2,6]. Shinoda et al has reported a case of HLH limited to CNS without the involvement of other systemic organs or inflammatory response [6].…”

Section: Discussionmentioning

confidence: 99%

Neurological presentation of hemophagocytic lymphohistiocytosis

Żur-Wyrozumska

Teresa

Mensah-Glanowska

et al. 2015

Neurologia i Neurochirurgia Polska

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Hemophagocytic lymphohistiocytosis (HLH) is an inflammatory disorder arising from defects in critical regulatory pathways responsible for termination of inflammatory response. We are presenting a case report of a 20-year-old male, admitted to the Department of Neurology because of left lower limb weakness and balance disturbances. After a few days of hospitalization, fever occurred. Laboratory tests revealed anemia, neutropenia, lymphopenia, and thrombocytopenia. The clinical course and laboratory tests results confirmed the diagnosis of HLH. In our opinion, the disorder in the presented case occurred due to severe chronic active Epstein-Barr virus infection syndrome. We are presenting the case of pure neurological onset of hemophagocytic lymphohistiocytosis in an adult patient. Hemophagocytic lymphohistiocytosis, initially presenting with neurological symptoms, can occur in adult patients with irrelevant family history. It is a life-threatening but potentially curable condition requiring proper diagnostic and treatment management.

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Isolated Central Nervous System Hemophagocytic Lymphohistiocytosis: Case Report

Cited by 42 publications

References 8 publications

CNS involvement at the onset of primary hemophagocytic lymphohistiocytosis

CNS involvement at the onset of primary hemophagocytic lymphohistiocytosis

Familial and acquired hemophagocytic lymphohistiocytosis

Neurological presentation of hemophagocytic lymphohistiocytosis

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