• Pediatric Infection and Vaccine
• /
• 제3권2호
• /
• pp.200-206
• /
• 1996

Virus associated hemophagocytic syndrome(VAHS), a class II histiocytosis syndrome, is characterized by high fever, liver dysfunction, coagulation abnormalities, and generalized histiocytic proliferation with marked hemophagocytosis in bone marrow and lymph nodes. VAHS is associated with several viral infections including Epstein Barr virus which has a relatively high mortality rate. We report a fatal case of Epstein Barr virus associated hemophagocytic syndrome and its diagnosis by mRNA in situ hybridization and polymerase chain reaction. A brief review of related literaure is also presented.

• Pediatric Infection and Vaccine
• /
• 제9권1호
• /
• pp.95-99
• /
• 2002

저자들은 내원 1개월 전부터의 고열 복통을 주소로 전원되어 복수를 동반한 EBV 연관성 VAHS로 진단된 1례를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• Clinical and Experimental Pediatrics
• /
• 제45권5호
• /
• pp.664-668
• /
• 2002

저자들은 이에 가와사끼병 및 말단 조직괴저가 동반된 혈구 탐식증 1례를 보고하는 바이며, 가와사끼병 환자가 간비종대, 혈소판 감소를 보이는 경우에는 드물지만 혈구 탐식증의 가능성을 배제할 수 없으므로 확진을 위하여 혈청 중성지방의 측정과 골수 생검을 시행하여야 할 것으로 사료하는 바이다.

• Journal of Korean Medical Science
• /
• 제33권50호
• /
• pp.319.1-319.5
• /
• 2018

The incidence of severe fever with thrombocytopenia syndrome (SFTS) has increased in Korea since a first report in 2013. We investigated whether SFTS existed before 2013 using real-time reverse transcription polymerase chain reaction and stored blood samples from febrile patients with thrombocytopenia. Four cases of SFTS were identified, with the earliest occurring in 2008.

• 대한두경부종양학회지
• /
• 제36권2호
• /
• pp.55-59
• /
• 2020

Hemophagocytic lymphohistiocytosis (HLH) is a rare but life-threatening one syndrome of excessive immune activation. This immune dysregulation disorder is prominently associated with cytopenias and combinations of clinical signs and extreme inflammation symptoms. For survival, it is important to diagnose early and treat appropriately. We report a case of 10 years old boy who was admitted to the hospital with a month history of fever and cervical lymph node enlargement. There were signs of hemophagocytic histiocytosis in the lymph node and bone marrow. The etiology, diagnosis, and treatment of hemophagocytic lymphohistiocytosis are reviewed.

• Pediatric Infection and Vaccine
• /
• 제31권1호
• /
• pp.122-129
• /
• 2024

Chediak-Higashi syndrome (CHS) is a rare haematological and immunodeficiency disorder that occurs in childhood leading to recurrent infections, bleeding tendencies and progressive neurological dysfunction. Partial oculocutaneous albinism occurs in almost all cases. The exact prevalence is unknown, and the disease is caused by over 70 identified mutations in the lysosomal trafficking regulator gene. The presence of a bright polychromatic appearance from hair shaft and abnormally large intracytoplasmic granules, especially within neutrophils and platelets in the bone marrow is highly suggestive. Treatment is largely supportive, and the only curative treatment is through an allogeneic hematopoietic stem cell transplant. Without transplant, most patients will enter an accelerated phase of hemophagocytic lymphohistiocytosis (HLH) which carries a high mortality rate. We present a young male with CHS who we had followed through and eventually developed a fulminant accelerated phase. We believe this is only the second reported case of CHS in Malaysia.

• Clinical and Experimental Pediatrics
• /
• 제57권2호
• /
• pp.91-95
• /
• 2014

Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by cutaneous hypopigmentation, immunodeficiency, and hemophagocytic lymphohistiocytosis. We describe 2 brothers who had GS2 with clinically diverse manifestations. The elder brother presented with a purely neurological picture, whereas the younger one presented with fever, pancytopenia, hepatosplenomegaly, and erythema nodosum. Considering that cutaneous hypopigmentation was a common feature between the brothers, genetic analysis for Griscelli syndrome was performed. As the elder sibling had died, mutation analysis was only performed on the younger sibling, which revealed a novel homozygous mutation in the RAB27A gene on chromosome 15 showing a single-base substitution (c.136T>A p.F46I). Both parents were heterozygous for the same mutation. This confirmed the diagnosis of GS2 in the accelerated phase in both siblings. The atypical features of GS2 in these cases are a novel mutation, isolated neurological involvement in one sibling, association with erythema nodosum, and 2 distinct clinical presentations in siblings with the same genetic mutation.

• Journal of Yeungnam Medical Science
• /
• 제38권3호
• /
• pp.245-250
• /
• 2021

Kikuchi-Fujimoto disease (KFD), also known as histiocytic necrotizing lymphadenitis, is a self-limiting lymphadenitis. It is a benign disease mainly characterized by high fever, lymph node swelling, and leukopenia. Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disease with clinical symptoms similar to those of KFD, but it requires a significantly more aggressive treatment. A 19-year-old Korean male patient was hospitalized for fever and cervical lymphadenopathy. Variable-sized lymph node enlargements with slightly necrotic lesions were detected on computed tomography. Biopsy specimen from a cervical lymph node showed necrotizing lymphadenitis with HLH. Bone marrow aspiration showed hemophagocytic histiocytosis. The clinical symptoms and the results of the laboratory test and bone marrow aspiration met the diagnostic criteria for HLH. The patient was diagnosed with macrophage activation syndrome-HLH, a secondary HLH associated with KFD. He was treated with dexamethasone (10 mg/m²/day) without immunosuppressive therapy or etoposide-based chemotherapy. The fever disappeared within a day, and other symptoms such as lymphadenopathy, ascites, and pleural effusion improved. Dexamethasone was reduced from day 2 of hospitalization and was tapered over 8 weeks. The patient was discharged on day 6 with continuation of dexamethasone. The patient had no recurrence at the 18-month follow-up.

• Tuberculosis and Respiratory Diseases
• /
• 제65권6호
• /
• pp.522-526
• /
• 2008

결핵과 연관된 혈구 탐식 증후군은 매우 드물며 사망률이 50% 정도로 높은 질환이다. 저자들은 결핵성 심막염 진단 후 2달간 항결핵약을 복용하고 있는 환자에서 지속적인 혈소판 감소증을 보이고 골수검사에서 혈구탐식증을 보였으나 이전에 보고된 증례와는 다르게 경한 임상증상을 보이면서 항결핵약제 및 스테로이드와 etoposide의 병합 항암 치료에 빠른 호전을 보인 예를 경험하였기에 이를 문헌 고찰과 함께 보고하는 바이다.

• Clinical and Experimental Pediatrics
• /
• 제61권5호
• /
• pp.167-173
• /
• 2018

Purpose: Hemophagocytic lymphohistiocytosis (HLH) is a hyperinflammatory syndrome with many causes, including Kawasaki disease (KD). The purpose of this study was to identify the laboratory tests needed to easily differentiate KD with HLH from incomplete KD alone. Methods: We performed a retrospective study on patients diagnosed with incomplete KD and incomplete KD with HLH (HLH-KD) between January 2012 and March 2015. We compared 8 secondary HLH patients who were first diagnosed with incomplete KD with all 247 incomplete KD diagnosed patients during the study period. The complete blood count, erythrocyte sedimentation rate, platelet count, and serum total protein, albumin, triglyceride, C-reactive protein, N-terminal pro-brain natriuretic peptide (NT-proBNP), and ferritin levels were compared. Clinical characteristics and echocardiography findings were also compared between the 2 groups. Results: The total duration of fever was longer in the HLH-KD group than in the KD group. White blood cell and platelet counts were higher in the KD group. Alanine aminotransferase, ferritin, and coronary artery diameter were increased in the HLH-KD group compared with those in the KD group. The median of NT-proBNP was significantly higher in the HLH-KD group than in the KD group at 889.0 (interquartile range [IQR], 384.5-1792.0) pg/mL vs. 233.0 (IQR, 107.0-544.0) pg/mL. Conclusion: The NT-proBNP level may be helpful in distinguishing incomplete KD from KD with HLH. The NT-proBNP level should be determined in KD patients with prolonged fever, in addition to the white blood cell count, platelet count, and ferritin level, to evaluate secondary HLH.