Acute suppurative thyroiditis as the initial presentation of juvenile systemic lupus erythematosus.

We report an unusual case of acute suppurative thyroiditis associated with juvenile systemic lupus erythematosus (JSLE) onset. A 10 year-old girl presented with a painful voluminous swelling in the anterior cervical region with fever and dysphagia. She also had dysphonia, myalgia, swelling of the small joints of the hands, weight loss, and erythematous malar rash. Thyroid ultrasonography disclosed an ill-defined solid cystic area containing abundant echoes in suspension suggestive of an abscess in both lobes compatible with suppurative bacterial thyroiditis. Fine-needle aspiration biopsy showed a secretion with positive culture for Staphylococcus aureus. Endoscopic evaluation did not demonstrate pyriform sinus fistula. The child had no previous thyroid disease. Hormonal evaluation showed thyrotrophin (TSH) 13 microIU/ml and free thyroxine (FT4) 0.4 ng/dl. After laboratory confirmation of JSLE, high dose 'pulse' therapy was performed with methylprednisolone (30 mg/kg/day for 3 days), followed by prednisone (2 mg/kg/day). The acute thyroiditis was treated with oxacillin, metronidazole and amikacin which ameliorated the symptoms of infection followed by normalization of thyroid function with levothyroxine. In spite of the known association between autoimmune diseases and thyroid disorders, the coexistence of suppurative thyroiditis and JSLE is rare, generally occurring during the course of lupus and not at diagnosis.

Gastrointestinal manifestations as initial presentation of acute leukemias in children and adolescents.

OBJECTIVE: this study aimed to determine the prevalence and characteristics of gastrointestinal manifestations on initial clinical presentation of acute leukemias (AL) in childhood. MATERIAL AND METHODS: this is a retrospective and descriptive study that assessed medical records of 354 patients with AL from January 1995 to December 2004. RESULTS: acute lymphoid leukemia (ALL) was diagnosed in 273 (77.1%) patients and acute non-lymphocytic leukemia (AML) in 81 (22.9%). There were 210 males (59.4%) and 144 females (40.6%). The most common presenting features were: abdominal pain (19.5% in ALL and 11.8% in AML), nausea and vomiting (14.9 in ALL and 14% in AML), abdominal distention (18.5 in ALL and 8.6% in AML; p 0.024), constipation (5% in ALL and 6.5% in AML), diarrhea (3.6% in ALL and 11.8% in AML; p 0.03%), and gastrointestinal bleeding (7.9% in ALL and 9.7% in AML). Ultrasound scanning was made in 61.1% and hepatomegaly was found on 33.6% and esplenomegaly on 28.5% of the patients with AL. Seventy-seven (21.7%) and 15 (4.2%) patients received nonsteroidal anti-inflammatory drugs and glucocorticoids before the diagnostic of AL. An association is well-defined between abdominal symptoms like nausea, vomiting and pain and use of this therapy but this association did not occurred clearly in this study. CONCLUSIONS: gastrointestinal symptoms are not very well-documented as initial manifestation of leukemia in children and should be considered on the differential diagnosis of gastrointestinal symptoms of unknown etiology in children.

Gastrointestinal manifestations as initial presentation of acute leukemias in children and adolescents / Manifestaciones gastrointestinales como presentación de las leucemias agudas en niños y adolescentes

OBJECTIVE: this study aimed to determine the prevalence and characteristics of gastrointestinal manifestations on initial clinical presentation of acute leukemias (AL) in childhood. MATERIAL AND METHODS: this is a retrospective and descriptive study that assessed medical records of 354 patients with AL from January 1995 to December 2004. RESULTS: acute lymphoid leukemia (ALL) was diagnosed in 273 (77.1%) patients and acute non-lymphocytic leukemia (AML) in 81 (22.9%). There were 210 males (59.4%) and 144 females (40.6%). The most common presenting features were: abdominal pain (19.5% in ALL and 11.8% in AML), nausea and vomiting (14.9 in ALL and 14% in AML), abdominal distention (18.5 in ALL and 8.6% in AML; p 0.024), constipation (5% in ALL and 6.5% in AML), diarrhea (3.6% in ALL and 11.8% in AML; p 0.03%), and gastrointestinal bleeding (7.9% in ALL and 9.7% in AML). Ultrasound scanning was made in 61.1% and hepatomegaly was found on 33.6% and esplenomegaly on 28.5% of the patients with AL. Seventy-seven (21.7%) and 15 (4.2%) patients received nonsteroidal anti-inflammatory drugs and glucocorticoids before the diagnostic of AL. An association is well-defined between abdominal symptoms like nausea, vomiting and pain and use of this therapy but this association did not occurred clearly in this study. CONCLUSIONS: gastrointestinal symptoms are not very well-documented as initial manifestation of leukemia in children and should be considered on the differential diagnosis of gastrointestinal symptoms of unknown etiology in children.

Objetivo: el objetivo del estudio fue determinar la prevalencia y las características de las manifestaciones gastrointestinales en la presentación clínica inicial de las leucemias linfoides agudas (LLA) en la infancia. Materialy métodos: se trata de un estudio descriptivo y retrospectivo que evaluó los registros médicos de 354 pacientescon LLA de enero de 1995 a diciembre de 2004. Resultados: la (LLA) ha sido diagnosticada en 273 (77,1%) pacientes y leucemia mieloide aguda (LMA) en 81 (22,9%). Hubo 210 niños (59,4%) y 144 niñas (40,6%). Los síntomas más comunes de presentaciónhan sido los siguientes: dolor abdominal(19,5% en LLA y 11,8% en el LMA), náuseas y vómitos (14,9 en LLA y 14% en LMA, P 0.024), distensión abdominal (18,5 en LLA y 8,6% en LMA, p 0,024), estreñimiento (5% en LLA y 6,5% en LMA), diarrea (3,6% en LLA y 11,8% en LMA, p 0,03%) y hemorragia gastrointestinal (7,9% en LLA y 9,7% enLMA). La ecografía fue realizada en 61,1% de los pacientes encontrándose hepatomegalia en 33,6% y esplenomegalia en 28,5% con LLA. Setenta y siete (21,7%) y 15 (4,2%) pacientes recibieron los fármacos antiinflamatorios no esteroides y glucocorticoides antes del diagnóstico de LLA. Hay una asociación bien definidaentre síntomas abdominales como náuseas, vómitos y dolor y el uso de esta terapia pero esta asociación no seprodujo claramente en este estudio. Conclusiones: las manifestaciones gastrointestinales no están bien documentadas como manifestaciones iniciales de la leucemia en los niños y debe considerarse en el diagnóstico diferencial de los síntomas gastrointestinales de etiología desconocida en estas edades.

Imunodeficiência primária: quando investigar, como diagnosticar / Primary immunodeficiency: when to investigate, how to diagnose

O sistema imunológico normal possui duas ações de trabalho para manter a função normal do hospedeiro: a resposta imunológica inespecífica e a específica. Qualquer desequilíbrio em alguma parte da resposta imunológica pode resultar em uma inabilidade de controlar a infecção com doença subjacente. As imunodeficiências incluem uma variedade de doenças que deixam os pacientes mais susceptíveis a infecções e são classificadas em primárias e secundárias. Imunodeficiência primária deve ser suspeitada em todo o paciente com infecções recorrentes inexplicadas, infecções oportunistas, infecções que não respondem à terapia e que apresentam déficit pôndero-estatural. As imunodeficiências primárias incluem as doenças da imunidade humoral, os defeitos da célula T, os defeitos combinados da célula B e T, as doenças dos fagócitos e as deficiências do complemento..

The normal immune system has two arms work to maintain normal host function: nonspecific responses (innate immune responses) and immune specific response. Disruption of any part of the immune response can result in an inability to control infection and subsequent illness. Immunodeficiencies include a variety of disorders that render patients more susceptible to infections and are classified in primary and secondary. Primary immunodeficiency is suspected on the patient with unexplained recurrent infections, infections with opportunistic pathogens, infection with no response to therapy and failure to thrive. Common primary immunodeficiencies include disorders of humoral immunity, T-cell defects and combined B and T-cell defects, phagocytic disorders and complement deficiencies...