[Major histocompatibility complex class II deficiency]. / Déficit de expresión de moléculas de clase II del complejo mayor de histocompatibilidad.

Major histocompatibility complex class II deficiency is an autosomal recessive primary combined immunodeficiency. The prevalence of this deficiency is highest in Mediterranean areas, especially north Africa. Early diagnosis is essential due to high mortality in the first 2 years of life and the possibility of bone marrow transplantation. We report four cases of major histocompatibility complex class II deficiency and describe their epidemiologic and clinical characteristics, diagnostic tests, treatment and outcome.

Déficit de expresión de moléculas de clase II del complejo mayor de histocompatibilidad / Major histocompatibility complex class II deficiency

El déficit de expresión de moléculas de clase II del complejo mayor de histocompatibilidad es una inmunodeficiencia primaria combinada de herencia autosómica recesiva. Presenta mayor prevalencia en los países mediterráneos, sobre todo en el norte de África. La precocidad en el diagnóstico es vital, dada su elevada letalidad en los primeros 2 años de vida, así como su potencial tratamiento mediante trasplante de progenitores hematopoyéticos. Se presenta una revisión de 4 casos mediante la descripción de las características epidemiológicas y clínicas, las pruebas diagnósticas, el abordaje terapéutico y la posterior evolución

Major histocompatibility complex class II deficiency is an autosomal recessive primary combined immunodeficiency. The prevalence of this deficiency is highest in Mediterranean areas, especially north Africa. Early diagnosis is essential due to high mortality in the first 2 years of life and the possibility of bone marrow transplantation. We report four cases of major histocompatibility complex class II deficiency and describe their epidemiologic and clinical characteristics, diagnostic tests, treatment and outcome

Infección perinatal por VIH-1 no esperada / Unexpected perinatal HIV-1 infection

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Differences in the immunological responses in drug- and virus-induced cutaneous reactions in children.

The cutaneous symptoms in non-immediate reactions to drugs are not always clinically distinguishable from those induced by viruses, especially during the early phase of the reaction. Moreover, viral infections and drug reactions often coexist and identification of the etiological agent is necessary. Discerning the differences in the immunological response between both may help in the diagnosis. The aim of this study was to determine possible differences in the immunological response in non-immediate cutaneous reactions to drugs versus cutaneous viral-induced diseases in children. Two groups of children were evaluated: one with non-immediate drug-induced cutaneous reactions (DICR) and another with virus-induced cutaneous reactions (VICR). A third group of children taking the same drugs as the DICR group and with no cutaneous disease or viral infections was included as controls. The lymphocyte markers CD3, CD4, CD8, CD16, CD19, CLA, CD25, CD69, CD45RO, CD45RA were determined by flow cytometry. IL-2, IL-4, IL-5, IFN-gamma, TNF-alpha and IL-10 mRNA were measured by RT-PCR. Data were compared by non-parametric and chi(2) statistical analysis. In DICR group (n=8) the diagnosis was established by temporal association, improvement after drug withdrawal, patch testing, and in some cases by controlled administration. All patients in the VICR group (n=10) were diagnosed based on a positive viral serology: the presence of IgM antibodies or seroconversion of IgG antibodies. There were significant differences between the three groups in peripheral lymphocytes expressing the skin homing receptor CLA (P < 0.01), the early activation marker CD69 (P < 0.001), and the memory (CD3+CD45RO+) (P < 0.02) and naive (CD3+CD45RA+) (P < 0.03) T cell subsets. Children with DICR showed a TH1 mRNA cytokine pattern whereas those with VICR showed a TH0 pattern. In lymphocyte subpopulations from children, differences in the immunological response between DICR and VICR can be detected in the expressions of the activation marker CD69 and the cutaneous homing receptor CLA, and in cytokine mRNA profiles.

[Nijmegen breakage syndrome associated with pulmonary lymphoma]. / Linfoma pulmonar asociado a síndrome de Nijmegen.

Nijmegen breakage syndrome is a rare autosomal recessive disorder characterized by a peculiar dysmorphic syndrome (microcephaly, "bird-like" facies, short stature), combined immunodeficiency with recurrent infections, X-ray hypersensitivity and predisposition to malignancy, mainly lymphomas, as a consequence of chromosome instability due to anomalies in the repair of double-stranded DNA breaks.We present a 6-year-old boy with Nijmegen breakage syndrome, who developed a large B-cell non-Hodgkin's lymphoma, localized in the lung without nodal involvement.

Concentraciones basales de ACTH y cortisol en niños infectados por el virus de la inmunodeficiencia humana / Basal levels of Acth and cortisol in human immunodeficiency virus infected children

Objetivos. Determinar las concentraciones plasmáticas basales de ACTH y cortisol en niños infectados por el virus de la inmunodeficiencia humana (VIH). Comparar estas concentraciones en las distintas categorías de progresión de la enfermedad. Pacientes y métodos. Se estudió a 31 pacientes (14 varones) de edades entre 2 y 15 años diagnosticados de infección por el VIH. Se distribuyeron en las categorías de los CDC (Centers for Disease Control). El grupo control lo constituyeron 36 niños sanos (17 varones) de edades entre 2 y 15 años. Se determinaron las concentraciones plasmáticas basales matinales de ACTH y cortisol. Resultados. Las concentraciones hormonales medias fueron significativamente más altas en los pacientes infectados que en los controles sanos: ACTH, 33,2 frente a 21,3 pg/ml, y cortisol, 187,7 frente a 145,6 ng/ml. En las categorías de los CDC, las concentraciones basales de cortisol fueron significativamente más altas en la "C" (269,6 ng/ml). La cortisolemia se correlacionó con la elevación de la velocidad de sedimentación (r = +0,36) y de la inmunoglobulina A (r = +0,44) y con la disminución del porcentaje de linfocitos T CD4 (r = -0,45). Conclusiones. Los niños con infección por el VIH presentan unas concentraciones basales de ACTH y cortisol elevadas en comparación con los niños sanos. La concentración basal de cortisol es mayor en la categoría "C" de los CDC (AU)

[Meningitis due to haemophilus influenzae type f]. / Meningitis por Haemophilus influenzae tipo f.

We report an immunocompetent 5-month-old boy with Haemophilus influenzae type f (Hif) meningitis. The patient had previously been immunized with two doses of Hib conjugate vaccine (PRP-T). Vaccination failure was initially suspected based on Gram stain report. The results of culture identified a non-b Haemophilus influenzae capsular serotype (Hif).Non-Hib serotypes should be considered as potential pathogenic agents in children under the age of 5 years with invasive diseases. An adequate epidemiological surveillance system would be helpful in detecting the role of these non-b Hif serotypes as significant pathogens, which appear to be on the increase.

Meningitis por Haemophilus influenzae tipo F / Meningitis due to haemophilus influenzae type f

Se describe un niño de 5 meses inmunocompetente con meningitis por Haemophilus influenzae tipo f (Hif). Había recibido previamente dos dosis de vacuna frente a Haemophilus influenzae tipo b (Hib) con polirribosilribitol fosfato conjugado con la proteína de toxoide tetánico (PRP-T). Aunque inicialmente se sospechó un fracaso vacunal a partir de los hallazgos del Gram en líquido cefalorraquídeo, se identificó posteriormente un Hif no cubierto por la vacuna conjugada. Los serotipos no b (Hinb) deberían ser tenidos en cuenta como patógenos potenciales en niños menores de 5 años con enfermedades invasoras. Un programa de vigilancia epidemiológico sería de utilidad para monitorizar posibles incrementos futuros en la frecuencia de estos serotipos como patógenos significativos (AU)

[Admissions of patients with AIDS to pediatric intensive care units]. / Ingresos por sida en cuidados intensivos pediátricos.

OBJECTIVE: To describe the most significant clinical features of children with acquired immunodeficiency syndrome who required admission to a pediatric intensive care unit (PICU). METHODS: Retrospective study of 12 patients with AIDS who required 13 admissions, between January 1988 and December 1997. RESULTS: Mean age at admission was 15 months (1 month-6 years). Seven patients were under 1 year of age; four were diagnosed during their stay in the unit. The most common reason for admission was respiratory failure (six patients), followed by cardiac failure. Six patients needed mechanical ventilation (5 for respiratory failure). Two patients died during their stay, one of pneumonia due to Pneumocystis carinii infection and one of septic shock. CONCLUSIONS: One-third of patients was diagnosed with HIV Infection during their stay at the PICU. Opportunistic infection was the initial manifestation of the disease. Consequently, with this type of infection, clinical suspicion should be high. The survival rate of up to 84.6% of the admissions to our unit as well as the new, highly active antiretroviral therapy, generally make HIV-infected children suitable for treatment in intensive care units.

Ingresos por SIDA en cuidados intensivos pediátricos / Admissions of patients with aids to pediatric intensive care units

Scanear (AU)

[Pulmonary symptoms of primary immunodeficiency diseases]. / Manifestaciones pulmonares de las immunodeficiencias primarias.

OBJECTIVE: Patients who lack major components of the immune system carry an increased risk for severe and recurrent pulmonary infections at those respiratory sites were the deficient component would, in the normal state, have its greatest concentration. We report different pulmonary manifestations in pediatric patients with primary immunodeficiency disease (PID). PATIENTS AND METHODS: We studied 44 children younger than 14 years old, who were diagnosed of PID in our pediatric department between January 1990 and May 1996. RESULTS: Antibody deficiencies were the most frequent disorders (27/44; 61.3%) followed by PID associated with or secondary to other disorders (10/44; 22.7%) and defects of phagocyte function (5/44; 11.3%). Twenty-seven patients (61.3%) showed relevant pulmonary manifestations that required assistance in the division of pediatric pulmonology. Bronchial responsiveness was seen in 17/27, 11/27 had recurrent pneumonias with development of bronchiectasis in 7/27. Opportunistic or severe pneumonias leading to acute respiratory failure were diagnosed in 9/27. Necrotizing pneumonias leading to development of pneumatoceles, cavities or abscesses was seen in 3/27 with the same rate for lymphoid interstitial pneumonia. Respiratory symptoms were the first manifestations of PID in 19/27 (70.3%). CONCLUSIONS: The findings of the study emphasize the responsibility of the pediatric pulmonologists in avoiding the delayed diagnosis of PID since the prognosis depends on the precocity of diagnosis.

[Bacterial meningitis. Clinical-epidemiological study. Review of 8 years (1988-1995)]. / Meningitis bacterianas. Estudio clínico-epidemiológico. Revisión de 8 años (1988-1995).

OBJECTIVE: The objective of this study was to determine the epidemiological and clinical characteristics of the bacterial meningitis assisted in the Hospital Materno-Infantil of Complejo Hospitalario Carlos Haya of Malaga. PATIENTS AND METHODS: The epidemiological, clinical, biological and therapeutical aspects are analyzed between the period of January 1988 to December 1995. RESULTS: The number of cases was 322, with the pathogen known in 240 (74.6%) and undetermined in 82 cases (24.6%). Meningococcal meningitis was the predominant cause with 162 cases (67.5%), followed by Haemophilus influenzae (40 cases, 16.7%) and pneumococcal meningitis (27 cases, 11.3%). Neisseria meningitidis type B was the most common serogroup, with an increasing number of type C from 1993.

Carney's triad: apropos of a new case.

Carney's triad is defined by the coexistence of at least two of three rare disorders, including gastric epithelioid leiomyosarcoma (malignant leiomyoblastoma), pulmonary chondroma, and paraganglioma, most often extra-adrenal and functioning. We report a new case in a 10-year-old girl. The paraganglioma, although nonfunctioning, was detected after it was searched for, as Carney's triad was suspected. Unrelated seems the development of breast fibroadenomas in the same patient. Whenever a patient with one component of the triad is encountered, the possibility of this syndrome should be considered and the other two components sought.

[Marginalization and AIDS in pediatrics]. / Marginación y Sida en pediatría.

This study realizes a view of the patient, his disease and his environment, divided in newborn, kindergarten and schoolers, and into other group, adolescents. The themes are neurology clinic, familiar, social and economic environment, problems of the chronic disease, scholarships, hospitalization ahd assistance, adoption and legal rules in relation with the pediatrics patients with AIDS or positives antibodies.