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hemophagocytic lymphohistiocytosis neurology

Oswald Moling, Andrea Piccin, Martina Tauber, Peter Marinello, Mariagrazia Canova, Marco Casini, Giovanni Negri, Bernd Raffeiner, Raffaella Binazzi, Latha Gandini, Cinzia Vecchiato, Giovanni Rimenti, Atto Billio
BACKGROUND: Silicone implants have been successfully used for breast augmentation and reconstruction in millions of women worldwide. The reaction to the silicone implant is highly variable; it can lead to local inflammatory symptoms, and sometimes to systemic symptoms and disease. Over 80 cases of anaplastic lymphoma kinase-negative anaplastic large cell lymphoma have been reported in patients with silicone breast implants and have been accepted as a new clinical entity. To the best of our knowledge, an intravascular large B-cell lymphoma associated with a silicone breast implant has not been reported previously...
September 15, 2016: Journal of Medical Case Reports
Robin C Willenbring, Fang Jin, David J Hinton, Mike Hansen, Doo-Sup Choi, Kevin D Pavelko, Aaron J Johnson
BACKGROUND: CD8 T cell-mediated blood-brain barrier (BBB) disruption is dependent on the effector molecule perforin. Human perforin has extensive single nucleotide variants (SNVs), the significance of which is not fully understood. These SNVs can result in reduced, but not ablated, perforin activity or expression. However, complete loss of perforin expression or activity results in the lethal disease familial hemophagocytic lymphohistiocytosis type 2 (FHL 2). In this study, we address the hypothesis that a single perforin allele can alter the severity of BBB disruption in vivo using a well-established model of CNS vascular permeability in C57Bl/6 mice...
2016: Journal of Neuroinflammation
Ozan Kocak, Coskun Yarar, Sevgi Yimenicioğlu, Arzu Ekici, Özcan Bör
Hemophagocytic lymphohistiocytosis (HLH) is a rare lymphoproliferative disorder. HLH may occur as a complication of Epstein-Barr virus (EBV), particularly in patients with immunodeficiencies. Herein, we describe a 16-year-old girl with neurological complications associated EBV-induced HLH. Her cerebral magnetic resonance imaging (MRI) showed contrast-enhanced axial T1-weighted images with enhancement of meningeal surface in the right hemisphere that was consistent with right hemi-meningitis. Hydrocephalus, dilated subdural spaces, delayed myelination, edema, diffuse parenchymal atrophy, calcifications, diffuse/patchy white matter abnormalities have all been previously described with HLH...
July 2016: Annals of Indian Academy of Neurology
Allison M Bock, Michelle LeVeque, Bruce Camitta, Julie-An Talano
BACKGROUND: Central nervous system (CNS) involvement is a major cause of morbidity and mortality in patients with hemophagocytic lymphohistiocytosis (HLH). Current standard of care for CNS disease utilizes high-dose systemic dexamethasone plus intrathecal methotrexate and hydrocortisone prior to transplantation. However, the morbidity and mortality remains high and there are no clear guidelines posttransplantation for screening and treatment of CNS disease. PROCEDURE: We report a single-center retrospective case series of five patients with familial HLH (FHLH) who had CNS involvement post-bone marrow transplantation (BMT)...
August 27, 2016: Pediatric Blood & Cancer
Hua Pan, Dong-Ning Feng, Liang Song, Li-Rong Sun
BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening disorder characterized by prolonged fever, cytopenia, hepatosplenomegaly, rash, icterus, and other neurological symptoms. Successful treatment of HLH by etoposide has improved outcomes for children with HLH. However, the development of treatment-related acute myeloid leukemia (t-AML) after the usage of this drug is a concern. CASE PRESENTATION: We report a case of acquired EBV-triggered HLH with progression to t-AML following etoposide therapy with cytogenetic abnormality for t (11; 19) (q23; p13) resulting in MLL gene fusion...
2016: BMC Pediatrics
Manisha Madkaikar, Maya Gupta, Ashish Dixit, Veerendra Patil
Neurological manifestations in familial hemophagocytic lymphohistiocytosis (FHL) are common, seen in up to 73% of patients in their course of disease. However, in majority of the cases central nervous system manifestations are associated with other clinical and laboratory parameters of hemophagocytic lymphohistiocytosis. We report here a case with FHL2 in whom hemophagocytic lymphohistiocytosis was a presenting manifestation which responded to specific therapy, however, there was isolated central nervous system relapse while patient was in remission and off therapy...
June 6, 2016: Journal of Pediatric Hematology/oncology
Claire Murphy, Sira Nanthapisal, Kimberly Gilmour, Sue Laurent, Felice D'Arco, Cheryl Hemingway, Paul Brogan, Despina Eleftheriou
No abstract text is available yet for this article.
May 31, 2016: Neurology
Jessica M Foley, Heather Borders, Beth A Kurt
Central nervous system (CNS) involvement in the context of hemophagocytic lymphohistiocytosis (HLH) is not uncommon. Given the immunosuppressive nature of HLH therapy, infectious complications are also seen. We describe a 9-year-old male who developed acute neurological decline secondary to aspergillosis while undergoing HLH therapy. The significant overlap observed in CNS neuroimaging of HLH and aspergillosis and the subtleties that may help differentiate the two are discussed. The importance of obtaining tissue for definitive diagnosis is underscored...
July 2016: Pediatric Blood & Cancer
R Rajyalakshmi, R N B Chakrapani
Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1), RAB27A (GS2), and MLPH (GS3) genes, characterized by a common feature, partial albinism. The common variant of three, GS type 2, in addition, shows primary immunodeficiency which leads to recurrent infections and hemophagocytic lymphohistiocytosis. We, herewith, describe a case of GS type 2, in a 4-year-old male child who presented with chronic and recurrent fever, lymphadenopathy, hepatosplenomegaly, and secondary neurological deterioration; highlighting the cytological and histopathological features of lymph nodes...
January 2016: Indian Journal of Pathology & Microbiology
Yun Zhang, Yingyun Yang, Yujia Bai, Dan Yang, Yangyang Xiong, Xuejun Zeng
We evaluated clinical characteristics and prognosis for adult-onset Still's disease (AOSD) complicated by hemophagocytic lymphohistiocytosis (HLH). We retrospectively identified cases of AOSD with (n = 10) and without (n = 305) HLH complications. We reviewed their medical records, completed follow-up through outpatient clinic and telephone interviews, and analyzed their clinical symptoms, signs, laboratory test results, treatments, and prognosis. More AOSD patients with HLH developed hepatomegaly, bleeding, serositis, and neurologic symptoms than those without HLH, and they more commonly presented with leukopenia, thrombocytopenia, severe anemia, severe liver function abnormalities, decreased fibrinogen, elevated immunoglobulin, and bone marrow hemophagocytosis...
May 2016: Clinical Rheumatology
Özgür Duman, Vedat Ali Yürekli, Pinar Gencpinar, Kamil Karaali, Hakan Gümüş, Çetin Okuyaz, Volkan Hazar, Şenay Haspolat
Acute disseminated encephalomyelitis (ADEM) is an immune-mediated monophasic inflammatory demyelinating disorder of the central nervous system which poses a diagnostic challenge. We report on six cases of different etiologies that mimicked the clinical and radiologic findings of ADEM. The cases were collected from four different reference hospitals in Turkey. The same radiologist from the Akdeniz University Faculty of Medicine examined the magnetic resonance images of all patients. Three (50%) patients had antecedent infections...
September 2015: Acta Clinica Croatica
Hiroko Fukushima, Takeshi Inoue, Yuki Kubo, Takahiro Okuno, Naomi Ishii, Yasutsugu Kobayashi, Masao Togawa, Takao Manabe, Kai Yamasaki, Keiko Okada, Junichi Hara
Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disorder that is clinically characterized by fever, hepatosplenomegaly, cytopenia and sometimes vague or dramatic central nervous system (CNS) dysfunction. FHL affecting the CNS imitates several neurologic disorders and may be misdiagnosed, in particular when family history is unknown. We report an autopsy case of FHL that was firstly considered as progressive encephalitis. FHL was suspected after sibling had been affected by hemophagocytosis and the same CNS symptoms...
July 2015: Rinsho Byori. the Japanese Journal of Clinical Pathology
Daniel M Pastula, Mark Burish, Gerald F Reis, Andrew Bollen, Soonmee Cha, Jeffrey Ralph, Vanja C Douglas
BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a clinical syndrome with both genetic and acquired causes characterized by elevated cytokine levels, hyperinflammation, and overactivation of lymphocytes and macrophages. It is typically a systemic disease with variable degrees of CNS involvement. Cases with predominantly central nervous system (CNS) involvement are very rare, with the vast majority of these occurring in infants and young children. This report documents a case of adult-onset CNS-HLH involving a middle-aged man...
2015: BMC Neurology
Żur-Wyrozumska Kamila, Rog Teresa, Mensah-Glanowska Patrycja, Szczudlik Andrzej
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...
2015: Neurologia i Neurochirurgia Polska
Zaher K Otrock, Mark D Gonzalez, Charles S Eby
Hemophagocytic lymphohistiocytosis (HLH) is a rare potentially fatal syndrome characterized by an uncontrolled hyperinflammatory response. The secondary form of HLH is usually triggered by a causative agent. Ehrlichia chaffeensis is a rare trigger of secondary HLH. We present a case series of five adolescents and adults diagnosed with Ehrlichia-induced HLH and we discuss their clinical and laboratory findings. We also review the literature for similar cases. Between October 2003 and June 2014, we identified 76 cases of HLH in adolescents and adults, 5 of which were induced by Ehrlichia...
October 2015: Blood Cells, Molecules & Diseases
Sean M Gratton, Tasha R Powell, Brett J Theeler, Jason S Hawley, Faria S Amjad, Carlo Tornatore
OBJECTIVE: To describe the neurological and neuroradiological features of acquired hemophagocytic lymphohistiocytosis (HLH) in adulthood by reporting a series of cases. METHODS: Ten consecutive patients who were diagnosed with HLH at Medstar Georgetown University Hospital and Walter Reed National Military Medical Center were evaluated for neurological involvement. All underwent clinical neurological evaluation, and when indicated CSF analysis and MR imaging of the brain...
October 15, 2015: Journal of the Neurological Sciences
Bianca Tesi, Samuel C C Chiang, Dalia El-Ghoneimy, Ayad Ahmed Hussein, Cecilia Langenskiöld, Rabia Wali, Zehra Fadoo, João Pinho Silva, Ramón Lecumberri, Sule Unal, Magnus Nordenskjöld, Yenan T Bryceson, Jan-Inge Henter, Marie Meeths
BACKGROUND: Perforin, encoded by PRF1, is a pore-forming protein crucial for lymphocyte cytotoxicity. Biallelic PRF1 nonsense mutations invariably result in early-onset hemophagocytic lymphohistiocytosis (HLH), termed familial HLH type 2 (FHL2). In contrast, biallelic PRF1 missense mutations may give rise to later-onset disease and more variable manifestations. PROCEDURE: We retrospectively searched our database for patients from families with siblings carrying biallelic PRF1 missense mutations where at least one sibling did not develop HLH, and for patients with biallelic PRF1 missense mutations and an atypical presentation of disease...
December 2015: Pediatric Blood & Cancer
Krzysztof Woźniak, Elżbieta Urbanowska, Emilian Snarski
Plasmapheresis also known as a therapeutic plasma exchange (TPE) is a procedure of plasma removal with it's ineligible plasma's component. Usually it is a supportive measure used simultaneously with the treatment, but in a few diseases, e.g. in trombotictrombocytopenic purpura (TTP), it is a first-choice treatment. During the plasmapheresis plasma is mostly replaced by 20% solution of albumin or combination of 20% solution of albumin and 0.9% solution of NaCl, however in some diseases fresh frozen plasma (FFP) is used...
2015: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
Wafa Saidi, Rima Gammoudi, Mouna Korbi, Amina Aounallah, Lobna Boussofara, Najet Ghariani, Badreddine Sriha, Nejia Braham, Mohamed Denguezli, Colandane Belajouza, Rafia Nouira
BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a rare condition of chaotic uncontrolled immune system stimulation and not fully understood pathophysiology. Most reported cases of hemophagocytic syndrome in patients with mycobacterial infections have been associated with Mycobacterium tuberculosis. As far as we could ascertain, to date, no established HLH case complicating leprosy has been published in the medical literature. CASE REPORT: We describe here a new case of Hansen's disease in a 58-year-old Tunisian man with an unusual complicated clinical course documented as hemophagocytic syndrome...
September 2015: International Journal of Dermatology
Shamshad G Khan, Mohammed Binmahfoodh, Muayad Alali, Mohammed Bayoumy, Youssef Al-Said, Husam R Kayyali
BACKGROUND: Cerebellar swelling with obstructive hydrocephalus is a rare but life threatening condition, associated with different etiologies, familial hemophagocytic lymphohistiocytosis (HLH) being rarely one of them. PATIENT: 2-year-7-month old boy presented with irritability, cerebellar dysfunction, and somnolence. Brain MRI showed marked diffuse cerebellar swelling and obstructive hydrocephalus with mild tonsillar herniation. Laboratory testing revealed pancytopenia, elevated liver enzymes, elevated ferritin and triglycerides levels and decreased fibrinogen...
September 2015: European Journal of Paediatric Neurology: EJPN
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