Xantoma diseminado / Disseminated xanthoma

Paciente de sexo femenino, de 22 años de edad, que consulta por poliuria, fiebre, desorientación témpo-espacial y pápulas pardo-rojizas en párpados, surco nasogenianos, pliegues y raíz de miembros. Se solicitan exámenes complementarios y biopsia confirmando el diagnóstico de xantoma diseminado. El interés del caso radica en una patología poco frecuente, generalmente de evolución benigna que en nuestra paciente tuvo desenlace fatal.

Síndrome hemofagocítico secundario en pediatría: experiencia clínica en ocho casos / Pediatric secondary hemophagocytic síndrome: clinical report of eight cases

El Síndrome hemofagocítico secundario (SHS) es una entidad poco frecuente caracterizada por activación macrofágica asociada a infecciones, inmunodeficiencias o neoplasia, pudiendo presentarse como un cuadro grave y de alta letalidad. El objetivo de este estudio es describir las características clínicas de un grupo de pacientes con SHS y su evolución en relación a los tratamientos utilizados. Pacientes y Método: Análisis retrospectivo de 8 casos de SHS diagnosticados en 3 años. Resultados: Edad promedio de 6 años. Los diagnósticos de base fueron: Neoplasia (3), Artritis reumatoidea (2), Síndrome de Down (1) y 2 pacientes sin patología asociada. En todos se asoció a infecciones, documentándose agente etiológico en 4 de ellos (adenovirus, Mycoplasma pneumoniae, Streptococo viridans y Pseudomona aeruginosa). Seis pacientes recibieron gammaglobulina EV y Metilprednisolona además de los antibióticos. Fallece 1 paciente. Comentario: La sospecha precoz del SHS y el inicio de tratamiento inmunomodulador se asociaron en esta serie a respuesta favorable y menor mortalidad.

Successful Treatment of Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis with HLH-94 Protocol

Hemophagocytic lymphohistiocytosis (HLH) is a rare, fatal disorder of children, affecting predominantly the mononuclear phagocytic system. Previous reports indicate that Epstein-Barr virus (EBV)-associated hemophagocytic lymphohistiocytosis (EBV-HLH) can also be fatal in many cases, although the prognosis for EBV-HLH is better than for the familial form of hemophagocytic lymphohistiocytosis. We treated four patients with EBV-HLH using immunochemotherapy including steroid, etoposide (VP-16), and cyclosporin, according to the HLH-94 protocol. All patients experienced persistent fever, cytopenia, and hypertriglyceridemia. Serological testing for EBV showed reactivated EBV infections in all patients. EBV DNA detected by PCR and EBV-encoded small RNA measured by in situ hybridization were confirmed in the patients' bone marrow specimens. Hemophagocytosis was shown in bone marrow aspirates and liver biopsy specimen. Complete remission was achieved in all patients after induction and continuation therapy for 4-10 months (median, 7 months) and was maintained for 15-27 months (median, 19 months) without the need for bone marrow transplantation. These results suggest that EBV-HLH can be effectively controlled by immunochemotherapy using the HLH-94 protocol.

Secondary hemophagocytic lymphohistiocytosis in children: an analysis of etiology and outcome.

Fifty-two pediatric patients were diagnosed with secondary hemophagocytic lymphohistiocytosis (HLH) at the Department of Pediatrics, Siriraj Hospital between 1989 and 1998. Of these, 15 were infection-associated (IAHS), 25 were malignancy-associated (MAHS) and 12 were idiopathic HLH. Causative organisms for IAHS were Salmonella (3), Staphylococcus (2), enterobactor (2), dengue virus (3), malaria (2) and one each of Ebstein Barr virus (EBV), Serratia marcesens and Penicillium maneffei. Unlike those reported in adults and in the Western literature, 47 of 52 children in the present series were immunocompetent hosts. In addition, the proportion of MAHS was higher than expected (48.1%). Twenty-two of 25 MAHS presented with hemophagocytic syndrome and were subsequently found to have malignant diseases. Sixty per cent of MAHS (15 cases) were associated with non-Hodgkin's lymphoma (NHL), mainly T-cell. Other malignancies included acute leukemias (7) MDS (1), Langerhans cell histiocytosis (1) and histiocytic sarcoma (1). Treatment approaches were specific therapy for individuals with known causes. Supportive treatment with blood components transfusions, steroid, intravenous immunoglobulins (IVIG), and chemotherapeutic agents, mainly vinblastine and etoposides, were used in indicated cases. Of the 52 cases, 15 (28.8%) had a fatal outcome during the acute phase, and other 4 died of their subsequent malignant diseases. There was a statistically significant association between poorer prognosis and patients' age < 3 years (p= 0.004) or MAHS (p=0.005). Conclusion: Secondary HLH is not uncommon in Thai children who are immunocompetent. Malignancies, particulary NHL, are highly suspicious especially for cases not responsive to conventional therapy. Poor prognostic factors are age less than 3 years and MAHS.

Bone marrow transplantation in a child with hemophagocytic lymphohistiocytosis using a less toxic conditioning regimen

Background. Hemophagocytic lymphohistiocytosis (HLH) is a rare non-neoplastic, frequently fatal disease of childhood. HLA-matched bone marrow transplantation (BMT) can bring about long-term remission and an eventual cure. Methods. We report on the beneficial effect of BMT in a 2-month-old male using a less intensive conditioning regimen. The regimen included busulfan at 4 mg/kg/day (total dose 16 mg/kg), etoposide at 300 mg/m²/day (total dose 900 mg/m²), and cyclophosphamide at 50 mg/kg/day (total dose 150 mg/kg). Prophylaxis for graft-vs.-host disease included methotrexate and cyclosporine. Results. An absolute neutrophil count of 500 µL was noticed on + day 12 (engraftment day). At present, i.e., 400 days after the procedure, the patients is asymptomatic, his physical examination is normal, and a slightly increased level of gamma-glutamyl-transpeptidase (GGT) and alkaline phosphatase are the only laboratory abnormalities. Conclusions. In this case, the conditioning regimen was adequate for the eradication of the disease and allowed persistent engraftment without significant toxicity. The results in our patient suggest that a less toxic regiment is feasible and permits rapid engraftment without compromising the effectiveness of chemotheraphy

L'hemophagocytose lymphohitiocytaire familiale: Apropos d'un cas

Familial hemophagocytic lymphohistiocytosis is still a rare serious disease. It is usually suspected on clinical and biological features but its diagnosis relies on histology. The authors report a case of a little boy, aged 3 months with a cutaneous rush, fever and a hepatosplenomegaly. The fine needle hepatic biopsy found a periportal infiltration by histiocytes engaged in active hemophagocytosis. The treatment was based on chemotherapy and corticoids but evolution was marked by the death of the patient