ABSTRACT
Erdheim-Chester disease (ECD) is a rare systemic non-Langerhans histiocytosis that affects multiple organ systems. It occurs more often in adults, and paediatric ECD is extremely rare. The diagnosis of ECD can be established based on clinical presentations and imaging but the final diagnosis should be based on biopsy. Treatment of ECD has involved the use of corticosteroids, radiotherapy, chemotherapy, surgery and haematopoietic stem cell transplantation, yet the efficacy of these treatments is difficult to determine. At present, it is thought that the treatment of interferon-α (IFN-α) is safe and effective for ECD. Herein, we report on an 11-year old girl who was admitted to hospital because of systemic bone pain and limping, and the final diagnosis of ECD was based on evidence provided by her clinical presentation, imaging and biopsy of a lesion of the right ilium. The patient was treated with subcutaneous IFN-α at a dosage of 3 Χ 10(6) units three times weekly for 19 months. We thought that the treatment of IFN-α was safe and effective for the girl's clinical manifestations, and IFN-α might be a valuable first-line therapy for paediatric ECD.
La enfermedad Erdheim-Chester (ECD) es una enfermedad sistémica rara caracterizada por histocitosis de células no Langerhans, que afecta múltiples sistemas orgánicos. Se presenta más a menudo en adultos, siendo su ocurrencia pediátrica sumamente rara. El diagnóstico de ECD puede establecerse a partir de sus manifestaciones clínicas e imagen médica, pero su diagnóstico final debe basarse en la biopsia. El tratamiento de ECD incluye el uso de corticosteroides, radioterapia, quimioterapia, cirugía y trasplante de células madre hematopoyéticas. Sin embargo, es difícil determinar la eficacia de estos tratamientos. En la actualidad, se piensa que el tratamiento con interferon-α (IFN-α), es seguro y eficaz para ECD. Aquí reportamos el caso de una niña de 11 años, que fue ingresada al hospital debido a dolores óseos sistémicos y cojera. El diagnóstico final de ECD se basó en evidencias proporcionadas por sus manifestaciones clínicas, el uso de la imagen médica, y la biopsia de una lesión del ilion derecho.
Subject(s)
Child , Female , Humans , Erdheim-Chester Disease/diagnosis , Erdheim-Chester Disease/drug therapy , Immunologic Factors/therapeutic use , Interferon-alpha/therapeutic useABSTRACT
A total of 1,885 blood and stool samples of four main protozoan parasitic infections were retrospectively reviewed from January, 2000 to April, 2004. Eleven of the 1,350 stool samples were shown positive for Cryptosporidium and Giardia infections; one of the 5 cases was clinically diagnosed as gastrointestinal cryptosporidiosis, while 6 cases were giardiasis. In patients with giardiasis, children were among the high-risk groups, making up 66.7% of these patients. The common presenting signs and symptoms were: diarrhea (83.3%), loss of appetite (83.3%), lethargy (83.3%), fever (66.7%), nausea/vomiting (50.0%), abdominal pain (16.7%), dehydration (16.7%) and rigor and chills (16.7%). Metronidazole was the drug of choice and was given to all symptomatic patients (83.3%). For the blood samples, 28 of the 92 peripheral smears for Plasmodium spp infection were diagnosed as malaria. The age range was from 4 to 57, with a median of 32.5 years. The sex ratio (M:F) was 3.6:1, while the age group of 30-44 years was the most commonly affected in both sexes. The majority of patients were foreigners (60.7%) and non-professional (39%). Plasmodium vivax (71%) infection was the most common pathogen found in these patients, along with a history of traveling to an endemic area of malaria (31%). The predominant presenting signs and symptoms were: fever (27%), rigor and chills (24%), nausea/vomiting (15%) and headache (8%). Chloroquine and primaquine was the most common anti-malarial regimen used (78.6%) in these patients. The seroprevalence of toxoplasmosis in different groups was 258/443 (58%): seropositive for IgG 143 (32.3%); IgM 67 (15%); and IgG + IgM 48 (10.8%). The age range was from 1 to 85, with a mean of 34 (+/- SD 16.6) years. The predominant age group was 21 to 40 years (126; 28.4%). The sex ratio (M:F) was 1.2:1. Subjects were predominantly male (142; 32%) and the Malay (117; 26.4%). Of these, 32 cases were clinically diagnosed with ocular toxoplasmosis. The range of age was from 10 to 56 years with a mean of 30.5 (+/- SD 12.05) years. The sex ratio (M:F) was 1:1.7. The majority were in the age group of 21 to 40 years, female (20; 62.5%), and Malay (17; 53%). They were also single (16; 50%), unemployed (12; 37%), and resided outside Kuala Lumpur (21; 65.6%). The more common clinical presentations were blurring of vision (25; 78%), floaters (10; 31%) and pain in the eye (7; 22%). We found that funduscopic examination (100%) and seropositivity for anti-Toxoplasma antibodies (93.7%) were the main reasons for investigation. Choroidoretinitis was the most common clinical diagnosis (69%), while clindamycin was the most frequently used antimicrobial in all cases. Among HIV-infected patients, 10 cases were diagnosed as AIDS-related toxoplasmic encephalitis (TE) (9 were active and 1 had relapse TE). In addition, 1 case was confirmed as congenital toxoplasmosis.