Sensorineural hearing loss in a case of familial hemophagocytic lymphohistiocytosis.

Severe sensorineural hearing loss (bilateral >80 dB) was diagnosed in a case of familial hemophagocytic lymphohistiocytosis (FHL). The female patient developed HLH at 3 months of age and underwent allogeneic cord blood transplantation at 11 months of age following 7 months of immuno-chemotherapy. The type 2 FHL patient had a homozygous perforin gene mutation of 1090-1091delCT, and was noted to have hearing loss at 3.

A novel type of encephalopathy associated with mushroom Sugihiratake ingestion in patients with chronic kidney diseases.

Background: The etiology of encephalopathy in uremic patients is multiple. We recently encountered a novel type of encephalopathy which occurred exclusively in patients with chronic kidney diseases after ingestion of a mushroom called Sugihiratake. While the exact etiology of this encephalopathy remained mysterious, we aimed to describe its clinical features.

Response to imatinib mesylate in a patient with idiopathic hypereosinophilic syndrome associated with cyclic eosinophil oscillations.

A 26-year-old man with idiopathic hypereosinophilic syndrome (HES) was treated with imatinib mesylate following a 5-year history of prednisolone therapy. The patient had hypereosinophilia (absolute eosinophil counts >1500/microL) occurring in cyclic oscillations as well as histologically diagnosed eosinophilic vasculitis, bursitis, and periodic soft-tissue swellings. Laboratory data revealed high levels of serum tryptase and increased numbers of mast cells in the bone marrow, but serum interleukin 5 levels were within the normal range.

Occurrence of haemophagocytic lymphohistiocytosis at less than 1 year of age: analysis of 96 patients.

Unlabelled: We analysed data of 96 infants (under 1 year of age) with haemophagocytic lymphohistiocytosis (HLH) from the registry of an HLH study conducted during 1986-2002 in Japan. The cases were classified into five groups. The diagnosis of familial HLH (FHL) as group 1 (n = 27) was made with positive family history and/or recent molecular test for perforin and Munc13-4 mutations.

Invasive adenoviral infection in a recipient of unrelated bone marrow transplantation: Problems with diagnostic PCR.

A hematopoietic stem cell transplantation (SCT) recipient developed severe diarrhea and fever. A rapid test for the presence of adenovirus (AdV)-specific antigen in the patient's stools was positive; however, AdV genome was not detected by conventional or real-time polymerase chain reaction (PCR). AdV was confirmed by specific PCR for AdV serotype 7 and by an AdV hexon/fiber gene DNA sequence homology search of the PCR product.

Longitudinal follow-up of patients with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis.

Background And Objectives: Although immunochemotherapy has been reported to be an effective initial treatment for patients with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis (EBV-HLH), the long-term outcome of these patients remains unknown. The main purpose of this study was to determine the outcome of the EBV-HLH patients treated between 1992 and 2001.

Design And Methods: During this period, a total of 78 EBV-HLH patients were consecutively registered in 3 separate studies.

Treatment of Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis (EBV-HLH) in young adults: a report from the HLH study center.

Background: Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis (EBV-HLH), also known as EBV-associated hemophagocytic syndrome, develops mostly in children and young adults and may be fatal. Early etoposide treatment has been confirmed to be effective in children. However, it is unclear whether the same treatment is useful in adults.

Hemophagocytic syndrome associated with severe adenoviral pneumonia: usefulness of real-time polymerase chain reaction for diagnosis.

In infection-associated hemophagocytic syndrome (HPS) the causative pathogen is often undetected, except in cases of herpes virus infections. We describe a 12-year-old girl with life-threatening pneumonia with HPS caused by an adenovirus. She was admitted with complaints of persistent fever and systemic petechiae/purpura.

Risk of etoposide-related acute myeloid leukemia in the treatment of Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis.

We studied the impact of etoposide on the prognosis of 81 patients (77 of whom were children <15 years old) with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis (EBV-HLH). The study group received a median cumulative dose of 1,500 mg/m2 etoposide (range, 0-14,550 mg/m2), with a median follow-up period of 44 months (range, 20-88 months) from the diagnosis. Only 1 patient, who received 3150 mg/m2 etoposide, developed therapy-related acute myeloid leukemia (t-AML), at 31 months after diagnosis.

Quantitative analysis of cell-free Epstein-Barr virus genome copy number in patients with EBV-associated hemophagocytic lymphohistiocytosis.

To determine whether the EBV genome content in serum or plasma reflects clinical features and outcome in EBV-associated hemophagocytic lymphohistiocytosis (EBV-HLH), we quantified the cell-free EBV genome copy number by real-time PCR in 38 patients with EBV-HLH, and compared this to the values from 15 patients with infectious mononucleosis (IM). The median (range) cell-free EBV genome copy number at diagnosis was 3.0 x 10(3) (undetectable -5.