Compromiso testicular en púrpura de Schõnlein Henoch, utilidad de la ecotomografía doppler / Testicular involvement in Henoch-Schõnlein purpura: the useful of doppler sonography

El púrpura de Schõnlein Henoch (PSH) es la vasculitis más frecuente de la infancia; afecta principalmente la piel, articulaciones y sistema gastrointestinal. El compromiso de los testículos se observa en el 15 por ciento de los pacientes, pero es raro como forma de presentación (1-2 por ciento). El presente caso clínico describe un niño de 4 años de edad sin antecedentes mórbidos que consultó por dolor, eritema, aumento de volumen testicular derecho y púrpura palpable de extremidades inferiores, cuya ecografía testicular mostró testículos normales con flujo Doppler normal y aumento de grosor de escroto y cordón espermático ipsi lateral. Exámenes de laboratorio fueron normales. Se diagnosticó PSH con compromiso testicular y se trató exitosamente con corticoides orales por una semana. Es importante considerar esta patología como diagnóstico diferencial de testículo agudo, para evitar la exploración quirúrgica innecesaria. Las características ecográficas permiten confirmar la sospecha diagnóstica.

Henoch Schõnlein purpura is the most common vasculitis presenting in the childhood, with frequent skin, articular and gastrointestinal compromise. Testicular pain is rare as an onset symptom (1-2 percent), but 15 percent of the cases develop it during the illness course. This case report describes a previously healthy 4 year old boy, who was admitted in theemergency department with a painful, erythematous right scrotal swelling, associated with palpable purpura on both inferior extremities. Testicular Color Doppler US imagingout ruled testicular alterations, but the ipsilateral scrotum and spermatic cord were enlarged. Blood was drawn for serologic and hematologic testing with normal results. Shõnlein Henoch purpura with testicular involvement was diagnosed and successfully treated with oral corticosteroids for one week. It is important to consider Schõnlein Henoch purpura among the differential diagnosis of acute testicle in order to avoid unnecessary surgical exploration. Testicular Doppler Ultrasound imaging is recommended to confirm the diagnosis.

Trasplante alogénico de precursores hematopoyéticos en pacientes con síndrome de Wiskott-Aldrich / Hematopoietic stem cell transplantation for patients with Wiskott-Aldrich syndrome

Background: Wiskott-Aldrich syndrome (WAS) is an X linked congenital disease that presents as eczema, thrombocytopenia and immune deficiency. The only curative procedure for this illness is hematopoietic stem cell transplant (HSCT), preferably from a healthy HLA identical sibling donor. Cord blood is becoming an excellent alternative as stem cell source from unrelated donors. Aim: To report our experience with HSCT in children with WAS. Patients and methods: Six boys with WAS diagnosed at 1 to 6 months of age were transplanted at our institution. All of them developed eczema and thrombocytopenia. Two had episodes of severe bleeding and three had repetitive infections (two with recurrent pulmonary infections and one a recurrent otitis). Three patients had a positive family history. Two received HSCT from sibling donors and four from unrelated cord blood donors at 7 months to 4 years of age. Results: AH 6 patients had full hematopoietic engraftment after transplantation. Three had mild chronic graft-versus- host disease which responded to immune suppressive therapy. One patient died of cytomegalovirus related pneumonia 111 days after grafting. The other 5 patients are alive and healthy 11 to 104 months after transplantation. Conclusions: HSCT is an effective treatment for patients with WAS. The procedure should be done as soon as diagnosis is confirmed and before life threatening infections occur.

Experiencia de 10 años en dermatomiositis juvenil / Juvenile dermatomyositis: a 10 -year-old experience

Introducción: La dermatomiositis juvenil es una enfermedad multisistémica caracterizada por inflamación de los músculos y la piel, de la cual existe escasa información en la literatura nacional. Objetivos: Analizar las manifestaciones clínicas y las alteraciones de laboratorio al diagnóstico, la evolución clínica y la respuesta al tratamiento. Paciente y Métodos: Estudio retrospectivo de pacientes con dermatomiositis juvenil, diagnosticados entre los años 1993 y 2003, provenientes del Hospital Sótero Del Río y del Hospital Clínico Universidad Católica de Chile. Resultados: Se incluyeron 9 mujeres y 2 varones, mediana de edad al diagnóstico fue 8 años. El intervalo entre inicio de síntomas y diagnóstico, mediana 5 meses (rango: 0-17 meses) y mediana del tiempo de seguimiento, 2 años (rango: 6 meses-4 años 10 meses). Los hallazgos más frecuentes fueron debilidad muscular y compromiso cutáneo. Todos los pacientes recibieron esteroides y el 73 por ciento metotrexato. Al término del seguimiento, el 73 por ciento de los enfermos estaban en remisión. Conclusiones: La evolución favorable de la mayoría de los pacientes pudiera relacionarse al corto tiempo de latencia entre inicio de síntomas y diagnóstico y el uso de fármacos inmunupresores.

Pruebas cutáneas de hipersensibilidad inmediata en una población pediátrica seleccionada / Skin prick test of immediate hipersensitivity in a selected Chilean pediatric population sample

Background: Skin prick test (SPT) of immediate hypersensitivity is a main instrument in the diagnosis of allergy. Aim: To demonstrate the applicability of skin prick test in different age groups. Patients and Methods: We studied children and adolescents with the diagnosis of allergy in the Pediatric Respiratory Laboratory of the Catholic University of Chile, from January 2001 to March 2002. The SPT was performed using a standardized technique. The allergens were applied on the volar surface of the forearm in children older than 4 years of age and in younger children it was applied on their back. For study purposes we separated them into three age groups: GI ¡2 years and 11 months, GII from 3 to 4 years and 11 months, GIII ×5 years. Results: We studied 408 children, aged between 8 months and 15 years. The SPT was applied to all patients with no adverse effects of any kind. There was a positive reaction in 57.7percent of children. The reaction was positive in 37percent in G1, 39percent in GII and 65percent in GIII (p <0.001). The predominant allergens for each group were dust mites (Dermatophagoides pteronissinus and farinae). Conclusions: SPT was useful when used on a selected pediatric population. The frequency of sensitization increased significantly with age. However, more than one third of children between 2 and 4 years of age tested positive to one or more allergen, demonstrating its applicability in this age group.

Manifestaciones clínicas y variabilidad inmunológica en nueve pacientes con síndrome de DiGeorge / Clinical findings and immunologic variability in 9 patients with DiGeorge syndrome

Background: DiGeorge syndrome is characterized by developmental defects of the heart, parathyroid glands and thymus. Aim: To describe the clinical variability of DiGeorge syndrome and its relation with immunodeficiency. Patients and methods: A three years retrospective chart review from three hospitals of Santiago, Chile was conducted. We included patients with neonatal diagnosis of DiGeorge syndrome. Clinical and immuno-logic data were collected from their initial evaluation. Results: We found 9 patients with DiGeorge syndrome. All had dysmorphic facies, hypocalcemia and congenital heart disease. Three patients had hypoparathyroidism, 4 had interrupted aortic arch type B, 4 had tetralogy of Fallot and 1 had coarctation of aorta. Six patients had other malformations and associated diseases. FISH studies, performed in 8 patients, found the 22q11.2 microdeletion in all. Most patients had low CD3, CD4 and CD8 T cell counts, that ranged for CD3 T cells, between 256/mm3 and 3,664/mm3, for CD4 T cells, between 224/mm3 and 2,649/mm3, for CD8 T cells, between 26/mm3 and 942/mm3. Three patients had CD4 T cells counts <400/mm3 and one had a phytohemagglutinin stimulation index <10. Airway malformations and primary hypoparathyroidism were present in 3 out of 4 patients that died before 18 months compared with the surviving patients (p=0.048). Conclusions: We found variable clinical manifestations as well as CD3, CD4 and CD8 T cell counts in patients with DiGeorge syndrome. Airway malformations were associated with a higher mortality (Rev Méd Chile 2004; 132: 26-32).

Artritis reumatoídea juvenil sistémica (ARJS) en menor de un año: caso clínico / Juvenile systemic rheumatoid arthritis in infant: clinical case

Se comunica el caso clínico de una paciente de nueve meses con artritis reumatoídea juvenil sistémica (ARIS). Se presentó con síndrome febril prolongado, exantema cutáneo, poliadenopatías, esplenomegalia, derrame pericárdico pequeño, edema de manos y artritis inicialmente de tobillo izquierdo y posteriormente de IF dedo pulgar derecho y rodillaizquierda. Tuvo buena respuesta a tratamiento con ibuprofeno y prednisona

Parotiditis aguda recurrente en el niño / Acute recurrent parotiditis in children

La parotiditis aguda recurrente (PAR) es una enfermedad de la infancia, caracterizada por episodios de inflamación paratídea asociada a sialectasia no obstructiva. El objetivo del presente trabajo es revisar nuestra experiencia en pacientes con PAR. Paciente y método: se estudiaron en forma retrospectiva las características clínicas, estudios de laboratorio e imágenes de 16 pacientes provenientes de un policlínico de inmunología reumatología infantil. Resultados: la edad de inicio fue en promedio 3 años, 3 meses (rango 6 meses a 8 años), con predominio de sexo masculino (56 por ciento). El 74 por ciento de los episodios fueron unilaterales, sin diferencia de lateralidad. Los síntomas más frecuentes fueron aumento de volumen parotídeo (100 por ciento), dolor local (42 por ciento) y fiebre (35 por ciento). Los exámenes de laboratorio resultaron dentro de rangos normales. En 7 pacientes se efectuó sialografía, la que demostró sialectasa punteada y globular. En 14 pacientes se efectuó ultrasonografía (US), la que demostró aumento de volumen parotídeo difuso, con múltiples imágenes nodulares hipoecogénicas en el interior de la glándula comprometida. Conclusiones: el cuadro clínico en la mayoría de esta serie correspondió al aumento de volumen glandular unilateral, sin diferencias significativas por sexo, y con un amplio rango de edad. Si bien el rendimiento de ambos estudios imagenológicos fue similar en la PAR, se sugiere a la US como un examen más apropiado para su evaluación inicial

Heterogeneidad de la presentación clínica del síndrome de microdeleción del cromosoma 22 región q11 / Clinical heterogenity of the chromosome 22q11 microdeletion syndrome

Background: DiGeorge anomaly, velocardiofacial syndrome and conotruncal anomaly face syndrome are part of a group of congenital malformations of the chromosome 22q11 microdeletion syndrome, since they share certain phenotypic features as well as a common genetic abnormality. The malformations include mild facial dysmorphic features, conotruncal heart defects, thymic and parathyroid hypoplasia or aplasia and cleft palate. Aim: To describe the initial clinical presentation of children with clinical and molecular diagnosis of 22q11 microdeletion. Patients and methods: Ten children (seven male) with the phenotypic features of 22q11 microdeletion syndrome are reported. Microdeletion was detected in peripheral Iymphocytes by fluorescent in situ hybridisation (FISH) with the TUPLE-1 DNA probe. Results: Two children had abnormal karyotypes, one of them had a visible deletion and another child had an unbalanced translocation inherited from his mother who had a balanced translocation between chromosomes 14 and 22. Two of the 10 patients had an anterior laryngeal web, a malformation infrequently described in this syndrome. Five patients had the diagnosis of DiGeorge anomaly, had a more serious clinical presentation and a higher early mortality. Conclusions: The high frequency of the 22q11 microdeletion syndrome, estimated at 1:5.000 newborns, and its variable presentations requires a high level of awareness for its early diagnosis and appropriate management of associated complications