Epilepsia partialis continua complicated by disseminated tuberculosis and hemophagocytic lymphohistiocytosis: a case report

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Abstract

Background

We describe a patient copresenting with epilepsia partialis continua, tuberculosis, and hemophagocytic lymphohistiocytosis. To our knowledge, this is the first documented case of this triad.

Case presentation

A 54-year-old black South African woman presented to a hospital in Scotland with an acute history of right-sided facial twitching, breathlessness, and several months of episodic night sweats. Clinical examination revealed pyrexia and continuous, stereotyped, right-sided facial contractions. These worsened with speech and continued through sleep. A clinical diagnosis of epilepsia partialis continua was made, and we provide a video of her seizures. Computed tomographic imaging of the chest and serous fluid analyses were consistent with a diagnosis of disseminated Mycobacterium tuberculosis. An additional diagnosis of hemophagocytic lymphohistiocytosis was made following the identification of pancytopenia and hyperferritinemia in peripheral blood, with hemophagocytosis evident in bone marrow investigation. We provide images of her hematopathology. The patient was extremely unwell and was hospitalized for 6 months, including two admissions to the intensive care unit for ventilatory support. She was treated successfully with high doses of antiepileptic drugs (benzodiazepines, levetiracetam, and phenytoin) and 12 months of oral antituberculosis therapy, and she underwent chemotherapy with 8 weeks of etoposide and dexamethasone for hemophagocytic lymphohistiocytosis, followed by 12 months of cyclosporine and prednisolone.

Conclusions

This combination of pathologies is unusual, and this case report helps educate clinicians on how such a patient may present and be managed. A lack of evidence surrounding the coexpression of this triad may represent absolute rarity, underdiagnosis, or incomplete case ascertainment due to early death caused by untreated tuberculosis or hemophagocytic lymphohistiocytosis. Further research is needed.

Electronic supplementary material

The online version of this article (10.1186/s13256-019-2092-x) contains supplementary material, which is available to authorized users.

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Most cited references 34

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Confirmed efficacy of etoposide and dexamethasone in HLH treatment: long-term results of the cooperative HLH-2004 study.

Elisabet Bergsten, AnnaCarin Horne, Maurizio Aricò … (2017)

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome comprising familial/genetic HLH (FHL) and secondary HLH. In the HLH-94 study, with an estimated 5-year probability of survival (pSu) of 54% (95% confidence interval, 48%-60%), systemic therapy included etoposide, dexamethasone, and, from week 9, cyclosporine A (CSA). Hematopoietic stem cell transplantation (HSCT) was indicated in patients with familial/genetic, relapsing, or severe/persistent disease. In HLH-2004, CSA was instead administered upfront, aiming to reduce pre-HSCT mortality and morbidity. From 2004 to 2011, 369 children aged <18 years fulfilled HLH-2004 inclusion criteria (5 of 8 diagnostic criteria, affected siblings, and/or molecular diagnosis in FHL-causative genes). At median follow-up of 5.2 years, 230 of 369 patients (62%) were alive (5-year pSu, 61%; 56%-67%). Five-year pSu in children with (n = 168) and without (n = 201) family history/genetically verified FHL was 59% (52%-67%) and 64% (57%-71%), respectively (familial occurrence [n = 47], 58% [45%-75%]). Comparing with historical data (HLH-94), using HLH-94 inclusion criteria, pre-HSCT mortality was nonsignificantly reduced from 27% to 19% (P = .064 adjusted for age and sex). Time from start of therapy to HSCT was shorter compared with HLH-94 (P =020 adjusted for age and sex) and reported neurological alterations at HSCT were 22% in HLH-94 and 17% in HLH-2004 (using HLH-94 inclusion criteria). Five-year pSu post-HSCT overall was 66% (verified FHL, 70% [63%-78%]). Additional analyses provided specific suggestions on potential pre-HSCT treatment improvements. HLH-2004 confirms that a majority of patients may be rescued by the etoposide/dexamethasone combination but intensification with CSA upfront, adding corticosteroids to intrathecal therapy, and reduced time to HSCT did not improve outcome significantly.

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British Infection Society guidelines for the diagnosis and treatment of tuberculosis of the central nervous system in adults and children.

Guy Thwaites, Martin Fisher, Cheryl Hemingway … (2009)

SUMMARY AND KEY RECOMMENDATIONS: The aim of these guidelines is to describe a practical but evidence-based approach to the diagnosis and treatment of central nervous system tuberculosis in children and adults. We have presented guidance on tuberculous meningitis (TBM), intra-cerebral tuberculoma without meningitis, and tuberculosis affecting the spinal cord. Our key recommendations are as follows: 1. TBM is a medical emergency. Treatment delay is strongly associated with death and empirical anti-tuberculosis therapy should be started promptly in all patients in whom the diagnosis of TBM is suspected. Do not wait for microbiological or molecular diagnostic confirmation. 2. The diagnosis of TBM is best made with lumbar puncture and examination of the cerebrospinal fluid (CSF). Suspect TBM if there is a CSF leucocytosis (predominantly lymphocytes), the CSF protein is raised, and the CSF:plasma glucose is <50%. The diagnostic yield of CSF microscopy and culture for Mycobacterium tuberculosis increases with the volume of CSF submitted; repeat the lumbar puncture if the diagnosis remains uncertain. 3. Imaging is essential for the diagnosis of cerebral tuberculoma and tuberculosis involving the spinal cord, although the radiological appearances do not confirm the diagnosis. A tissue diagnosis (by histopathology and mycobacterial culture) should be attempted whenever possible, either by biopsy of the lesion itself, or through diagnostic sampling from extra-neural sites of disease e.g. lung, gastric fluid, lymph nodes, liver, bone marrow. 4. Treatment for all forms of CNS tuberculosis should consist of 4 drugs (isoniazid, rifampicin, pyrazinamide, ethambutol) for 2 months followed by 2 drugs (isoniazid, rifampicin) for at least 10 months. Adjunctive corticosteroids (either dexamethasone or prednisolone) should be given to all patients with TBM, regardless of disease severity. 5. Children with CNS tuberculosis should ideally be managed by a paediatrician with familiarity and expertise in paediatric tuberculosis or otherwise with input from a paediatric infectious diseases unit. The Children's HIV Association of UK and Ireland (CHIVA) provide further guidance on the management of HIV-infected children (www.chiva.org.uk). 6. All patients with suspected or proven tuberculosis should be offered testing for HIV infection. The principles of CNS tuberculosis diagnosis and treatment are the same for HIV infected and uninfected individuals, although HIV infection broadens the differential diagnosis and anti-retroviral treatment complicates management. Tuberculosis in HIV infected patients should be managed either within specialist units by physicians with expertise in both HIV and tuberculosis, or in a combined approach between HIV and tuberculosis experts. The co-administration of anti-retroviral and anti-tuberculosis drugs should follow guidance issued by the British HIV association (www.bhiva.org).

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Hemophagocytic lymphohistiocytosis: review of etiologies and management

Melissa George (2014)

Hemophagocytic lymphohistiocytosis (HLH) covers a wide array of related life-threatening conditions featuring ineffective immunity characterized by an uncontrolled hyperinflammatory response. HLH is often triggered by infection. Familial forms result from genetic defects in natural killer cells and cytotoxic T-cells, typically affecting perforin and intracellular vesicles. HLH is likely under-recognized, which contributes to its high morbidity and mortality. Early recognition is crucial for any reasonable attempt at curative therapy to be made. Current treatment regimens include immunosuppression, immune modulation, chemotherapy, and biological response modification, followed by hematopoietic stem-cell transplant (bone marrow transplant). A number of recent studies have contributed to the understanding of HLH pathophysiology, leading to alternate treatment options; however, much work remains to raise awareness and improve the high morbidity and mortality of these complex conditions.

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Author and article information

Contributors

Gashirai K. Mbizvo:

ORCID: http://orcid.org/0000-0002-9588-2944

0131 536 0824 , gashirai.mbizvo@ed.ac.uk

Isabel C. Lentell: isabel.lentell@nhs.net

Clifford Leen: clifford.leen@nhs.net

Huw Roddie: huwroddie@nhs.net

Christopher P. Derry: cderry@nhs.net

Susan E. Duncan: susan.duncan4@nhs.net

Kristiina Rannikmäe: k.rannikmae@nhs.net

Journal

Journal ID (nlm-ta): J Med Case Rep

Journal ID (iso-abbrev): J Med Case Rep

Title: Journal of Medical Case Reports

Publisher: BioMed Central (London )

ISSN (Electronic): 1752-1947

Publication date (Electronic): 24 June 2019

Publication date PMC-release: 24 June 2019

Publication date Collection: 2019

Volume: 13

Electronic Location Identifier: 191

Affiliations

[1 ]ISNI 0000 0004 1936 7988, GRID grid.4305.2, Muir Maxwell Epilepsy Centre, Centre for Clinical Brain Sciences, , The University of Edinburgh, ; 20 Sylvan Place, Edinburgh, EH9 1UW UK

[2 ]ISNI 0000 0004 0624 9907, GRID grid.417068.c, Department of Clinical Neurosciences, , Western General Hospital, ; Edinburgh, UK

[3 ]ISNI 0000 0004 0383 8386, GRID grid.24029.3d, Haematology, Cambridge University Hospitals NHS Foundation Trust, ; Cambridge, UK

[4 ]ISNI 0000 0004 0624 9907, GRID grid.417068.c, Regional Infectious Diseases Unit, , Western General Hospital, ; Edinburgh, UK

[5 ]ISNI 0000 0004 0624 9907, GRID grid.417068.c, Department of Haematology, , Western General Hospital, ; Edinburgh, UK

[6 ]ISNI 0000 0004 1936 7988, GRID grid.4305.2, Department of Clinical Neurosciences and Sleep Medicine, Centre for Clinical Brain Sciences, , The University of Edinburgh, ; Edinburgh, UK

[7 ]ISNI 0000 0004 1936 7988, GRID grid.4305.2, Forth Valley Royal Hospital, Larbert, and Usher Institute of Population Health Sciences and Informatics, , The University of Edinburgh, ; Edinburgh, UK

Author information

Gashirai K. Mbizvo http://orcid.org/0000-0002-9588-2944

Article

Publisher ID: 2092

DOI: 10.1186/s13256-019-2092-x

PMC ID: 6589876

PubMed ID: 31230590

SO-VID: 0d82358d-c936-464c-af43-30bb13104815

License:

Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

History

Date received : 11 January 2019

Date accepted : 18 April 2019

Custom metadata

ScienceOpen disciplines: Medicine

Keywords: epilepsia partialis continua,epilepsy,seizures,etoposide,anticonvulsants,immunosuppression,hemophagocytic lymphohistiocytosis,macrophage activation syndrome,tuberculosis,status epilepticus

Data availability:

ScienceOpen disciplines: Medicine

Keywords: epilepsia partialis continua, epilepsy, seizures, etoposide, anticonvulsants, immunosuppression, hemophagocytic lymphohistiocytosis, macrophage activation syndrome, tuberculosis, status epilepticus

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Epilepsia partialis continua complicated by disseminated tuberculosis and hemophagocytic lymphohistiocytosis: a case report

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Abstract

Background

Case presentation

Conclusions

Electronic supplementary material

Related collections

European Journal of Medical Case Reports (EJMCR)

Most cited references 34

Confirmed efficacy of etoposide and dexamethasone in HLH treatment: long-term results of the cooperative HLH-2004 study.

British Infection Society guidelines for the diagnosis and treatment of tuberculosis of the central nervous system in adults and children.

Hemophagocytic lymphohistiocytosis: review of etiologies and management

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