Extremely elevated cerebrospinal fluid protein levels in a child with neurologic symptoms: Beware of haemophagocytic lymphohistiocytosis

Voeten, Michiel; Maes, Philip; Wojciechowski, Marek; Vandenbossche, L; Meyts, Isabelle; Ceulemans, Berten

doi:10.1016/j.ejpn.2013.11.012

Cited by 4 publications

(2 citation statements)

References 4 publications

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“…Although increased protein levels, as seen in 11–41% of HLH patients [ 7 , 9 , 16 ], are usually only moderately elevated (between 500 and 1000 mg/L, normal range age-dependent 150–400 mg/L), values up to 10,000 mg/L have been reported [ 10 , 31 ]. Protein levels higher than 2500 mg/L have been associated with stage III abnormalities [ 4 ••], but the prognostic value is uncertain as even patients with extremely elevated levels have had a good outcome [ 31 ]. High CSF protein levels in an encephalopathic child with unknown diagnosis should raise the suspicion of a neuroinflammatory condition including HLH.…”

Section: Definition Of Cns Disease In Hlhmentioning

confidence: 99%

How to Treat Involvement of the Central Nervous System in Hemophagocytic Lymphohistiocytosis?

Horne

Wickström

Jordan

et al. 2017

Curr Treat Options Neurol

102

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Opinion statementCentral nervous system (CNS)-hemophagocytic lymphohistiocytosis (HLH) is not a disease in itself, but it is part of a systemic immune response. The vast majority of patients with CNS-HLH also have systemic HLH and a large number of patients with primary and secondary HLH have CNS involvement. Reactivations within the CNS are frequent during the course of HLH treatment and may occur concomitant with or independent of systemic relapses. It is also important to consider primary HLH as an underlying cause of “unknown CNS inflammation” as these patients may present with only CNS disease. To initiate proper treatment, a correct diagnosis must be made. A careful review of the patient’s history and a thorough neurological examination are essential. In addition to the blood tests required to make a diagnosis of HLH, a lumbar puncture with cerebrospinal fluid (CSF) analysis and magnetic resonance imaging (MRI) should always be done in all cases regardless of the presence or absence of neurological signs or symptom. Treatment options for CNS-HLH include, but are not limited to, those commonly used in systemic HLH, including corticosteroids, etoposide, cyclosporine A, alemtuzumab, and ATG. In addition, intrathecal treatment with methotrexate and corticosteroids has become a standard care and is likely to be beneficial. Therapy must be initiated without inappropriate delay to prevent late effects in HLH. An interesting novel approach is an anti-IFN-gamma antibody (NI-0501), which is currently being tested. Hematopoietic stem cell transplantation (HSCT) also represents an important CNS-HLH treatment; patients with primary HLH may benefit from immediate HSCT even if there is active disease at time of transplantation, though care should be taken to monitor CNS inflammation through HSCT and treat if needed. Since CNS-HLH is a condition leading to the most severe late effects of HLH, early expert consultation is recommended.

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Section: Definition Of Cns Disease In Hlhmentioning

confidence: 99%

How to Treat Involvement of the Central Nervous System in Hemophagocytic Lymphohistiocytosis?

Horne

Wickström

Jordan

et al. 2017

Curr Treat Options Neurol

102

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“…Unfortunately, because of its rarity, HLH is often overlooked as a differential diagnosis in encephalitis, especially in the isolated CNS forms of HLH. 8,10,[13][14][15] A basic HLH screening, even in the absence of any systemic inflammation and hyperferritinemia, should include expression of perforin, SAP, and XIAP as well as NK cell and CD8 + T-cell degranulation. It should be completed, also in the absence of abnormal results in the initial tests, by exhaustive genetic testing (preferentially genetic panel of HLH-related genes or exome sequencing, given the numerous possible genetic defects).…”

Section: Discussionmentioning

confidence: 99%

Child Neurology: Familial Hemophagocytic Lymphohistiocytosis Underlying Isolated CNS Inflammation

et al. 2022

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Encephalitis and encephalopathy in children represent a diagnostic challenge. We describe a patient with relapsing encephalitis in whom the differential diagnosis included acute disseminated encephalomyelitis (ADEM), human herpesvirus 6 (HHV-6) encephalitis, and hemophagocytic lymphohistiocytosis (HLH). Because of its rarity, HLH is often overlooked as a differential diagnosis in encephalitis, especially in the isolated central nervous system (CNS) forms. As this case illustrates, inborn errors of immunity (IEIs) can underlie isolated encephalitis and should be included in the differential diagnosis of these presentations.

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CNS Involvement in HLH (CNS-HLH)

Horne

Beutel

2017

Histiocytic Disorders

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Extremely elevated cerebrospinal fluid protein levels in a child with neurologic symptoms: Beware of haemophagocytic lymphohistiocytosis

Cited by 4 publications

References 4 publications

How to Treat Involvement of the Central Nervous System in Hemophagocytic Lymphohistiocytosis?

How to Treat Involvement of the Central Nervous System in Hemophagocytic Lymphohistiocytosis?

Child Neurology: Familial Hemophagocytic Lymphohistiocytosis Underlying Isolated CNS Inflammation

CNS Involvement in HLH (CNS-HLH)

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