Sección de Reumatología pediátrica del Hospital Sant Joan de Déu / Pediatric Rheumatology section of the Hospital Sant Joan de Déu

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Treatment with bisphosphonates in severe hypercalcemia due to subcutaneous fat necrosis in an infant with hypoxic-ischemic encephalopathy.

Subcutaneous fat necrosis (SCFN) is a rare entity that occurs generally in term or post-term newborns exposed to perinatal stressing factors. These cutaneous lesions appear during the first weeks of life and their potential complications, such as hypercalcemia, determine the prognosis. We present a full-term newborn with SCFN lesions that appeared at the age of 12 days and who, 1 week later, developed moderate hypercalcemia. In our patient, the standard treatment was not enough to normalize calcemia and, in order to prevent secondary effects, etidronate therapy was initiated and it successfully normalized calcium levels. When SCFN is diagnosed, it is important to detect early hypercalcemia and treat it aggressively. This case provides further evidence of etidronate as an alternative and effective treatment for moderate-severe hypercalcemia.

Infección estafilocócica diseminada con manifestaciones clínicas Kawasaki-like / Disseminated staphylococcal infection resembling Kawasaki disease

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Documento de Consenso de la Sociedad de Infectología Pediatrica y la Sociedad de Reumatología Pediatrica sobre el diagnóstico diferencial y el abordaje terapéutico de la fiebre recurrente / Consensus Document on the differential diagnosis and therapeutic approach to recurrent fever by the Paediatric Infectology Society and the Paediatric Rheumatology Society

La fiebre recurrente es un problema relativamente frecuente en la infancia. En la mayoría de las ocasiones es sencillo establecer su etiología generalmente asociada a episodios infecciosos banales. No obstante, en un pequeño porcentaje de casos estos episodios se deben a procesos de causa no infecciosa a menudo de complejo diagnóstico. En este documento se analiza el diagnóstico diferencial de la fiebre recurrente o periódica frente a otros procesos, con especial atención a las enfermedades autoinflamatorias (EA). Las EA son alteraciones de la inmunidad innata recientemente incluidas dentro de las inmunodeficiencias, sin embargo no se caracterizan por presentar infecciones lo que las diferencia de las inmunodeficiencias clásicas. Un importante número de las EA tienen una base genética conocida. La sintomatología que ocasionan se deriva de una inflamación sistémica que puede dar clínica y procesos muy variados. Uno de los grupos mejor conocidos es el formado por los síndromes hereditarios de fiebre periódica. Este grupo se caracteriza por presentar fiebre recurrente, asociada a diversos síntomas, con una relativa periodicidad y con intervalos libres o casi libres de síntomas. Para algunas de las entidades más frecuentes se dispone de criterios diagnósticos que son aquí recogidos, así como las características que deben hacernos iniciar el estudio genético. El tratamiento debe ser individualizado dada la complejidad de estos cuadros si bien se pueden dar algunas recomendaciones generales (AU)

Recurrent fever is a relatively common problem during childhood. Diagnosis is often easy and related to mild viral infections. However a small proportion of these cases originate from an underlying non-infectious process that is generally difficult to diagnose. In this paper we describe the differential diagnosis of recurrent or periodic fever versus other processes, with especial attention to autoinflammatory disorders (AD). AD are alterations of innate immunity, and they have been recently classified as an immunodeficiency. Anyhow, since infections are not present, these processes are different to the classic primary immunodeficiency. An important part of AD is of known genetic aetiology. The symptoms originate from an underlying inflammatory process and can have different clinical expressions. One of the most relevant groups is the hereditary syndromes of periodic fever. This group of diseases associates recurrent fever and several clinical symptoms with a relative periodicity, separated by intervals free or almost free of symptoms. We include the diagnostic criteria for some processes as well as the characteristics that should, eventually, lead to a genetic study. Although treatment should be individualised, we also include some general recommendations (AU)

[Consensus Document on the differential diagnosis and therapeutic approach to recurrent fever by the Paediatric Infectology Society and the Paediatric Rheumatology Society]. / Documento de Consenso de la Sociedad de Infectología Pediatrica y la Sociedad de Reumatología Pediatrica sobre el diagnóstico diferencial y el abordaje terapéutico de la fiebre recurrente.

Recurrent fever is a relatively common problem during childhood. Diagnosis is often easy and related to mild viral infections. However a small proportion of these cases originate from an underlying non-infectious process that is generally difficult to diagnose. In this paper we describe the differential diagnosis of recurrent or periodic fever versus other processes, with especial attention to autoinflammatory disorders (AD). AD are alterations of innate immunity, and they have been recently classified as an immunodeficiency. Anyhow, since infections are not present, these processes are different to the classic primary immunodeficiency. An important part of AD is of known genetic aetiology. The symptoms originate from an underlying inflammatory process and can have different clinical expressions. One of the most relevant groups is the hereditary syndromes of periodic fever. This group of diseases associates recurrent fever and several clinical symptoms with a relative periodicity, separated by intervals free or almost free of symptoms. We include the diagnostic criteria for some processes as well as the characteristics that should, eventually, lead to a genetic study. Although treatment should be individualised, we also include some general recommendations.

[The clinical spectrum of cutaneous neonatal lupus erythematosus]. / Espectro clínico del lupus eritematoso neonatal cutáneo.

BACKGROUND: Neonatal lupus erythematosus (NLE) is an uncommon disease described mainly through isolated case reports and a few published series. OBJECTIVE: To examine the clinical and serological spectrum, and course of the disease in neonates with NLE and cutaneous involvement. METHODS: A retrospective study was performed that included all children with NLE that came to the Dermatology Department between 1995 and 2006. RESULTS: Eight children with a diagnosis of NLE with cutaneous involvement were identified, with a male:female ratio of 3:1. Anti-Ro antibodies were found in all cases and no cases with anti-RNP antibodies were found. Facial lesions were observed in all cases and in 7 cases the skin eruptions cleared within 4.3 months; the remaining patient was still in follow up when the data were collected. The clinical course of patients who were followed up was satisfactory. CONCLUSIONS: In our series, NLE was three times more frequent in males. Involvement of sun-exposed areas, such as the face with annular lesions was the most common finding. We found one case of NLE with cutaneous involvement and persistent ductus arteriosus. Anti-Ro antibodies were found in all cases and skin eruptions cleared by 7 months of age, concurrent with the waning of the maternally derived antibodies. Four of the mothers were asymptomatic and unaware of their condition, emphasizing the importance of following up these patients due to the possibility of developing an autoimmune disease.

Espectro clínico del lupus eritematoso neonatal cutáneo / The clinical spectrum of cutaneous neonatal lupus erythematosus

Antecedentes: el lupus eritematoso neonatal (LEN) es una enfermedad poco frecuente descrita básicamente a través de casos aislados, con pocas series extensas publicadas. Objetivo: analizar las características clínicas, serológicas y el curso de la enfermedad en recién nacidos con LEN que consultaron por lesiones cutáneas. Métodos: se realizó un estudio retrospectivo, a partir de historias clínicas, de los niños con LEN que consultaron al servicio de dermatología en 1995–2006.Resultados: se estudió un total de 8 pacientes con una relación varón : mujer de 3:1. En todos los casos los niños presentaron anticuerpos anti-Ro y no se encontró ningún caso con anticuerpos anti-RNP. Las lesiones cutáneas afectaron a la cara en todos los casos y en 7 de los casos se resolvieron en una media de 4,3 meses; el caso restante continuaba en seguimiento cuando se recogieron los datos. La evolución de los pacientes en quienes se realizó seguimiento fue favorable. Conclusiones: en nuestra serie, el LEN ha sido 3 veces más frecuente en recién nacidos varones. La afectación de zonas fotoexpuestas, como la cara, con lesiones de morfología anular ha sido el hallazgo más frecuente. Hemos encontrado un caso de LEN con afectación cutánea y ductus arteriosus persistente. En todos los casos se han encontrado anticuerpos anti-Ro y las lesiones se han resuelto antes de los 7 meses de edad, coincidiendo con el aclaramiento de éstos. Debemos destacar que 4 de las madres estaban asintomáticas y desconocían su enfermedad y la importancia del seguimiento de estas pacientes ante el eventual desarrollo de una enfermedad autoinmunitaria (AU)

Background: Neonatal lupus erythematosus (NLE) is an uncommon disease described mainly through isolated case reports and a few published series. Objective: To examine the clinical and serological spectrum, and course of the disease in neonates with NLE and cutaneous involvement. Methods: A retrospective study was performed that included all children with NLE that came to the Dermatology Department between 1995 and 2006.Results: Eight children with a diagnosis of NLE with cutaneous involvement were identified, with a male : female ratio of 3:1. Anti-Ro antibodies were found in all cases and no cases with anti-RNP antibodies were found. Facial lesions were observed in all cases and in 7 cases the skin eruptions cleared within 4.3 months; the remaining patient was still in follow up when the data were collected. The clinical course of patients who were followed up was satisfactory. Conclusions: In our series, NLE was three times more frequent in males. Involvement of sun-exposed areas, such as the face with annular lesions was the most common finding. We found one case of NLE with cutaneous involvement and persistent ductus arteriosus. Anti-Ro antibodies were found in all cases and skin eruptions cleared by 7 months of age, concurrent with the waning of the maternally derived antibodies. Four of the mothers were asymptomatic and unaware of their condition, emphasizing the importance of following up these patients due to the possibility of developing an autoimmune disease (AU)

Discitis: ¿podemos mejorar su evolución?. Resultado de un estudio retrospectivo / Diskitis: can we improve its course? Results of a retospective study

Objetivo: Describir el diagnóstico y el tratamiento de esta entidad. Pacientes y métodos: Revisión retrospectiva de 19 casos consecutivos diagnosticados de discitis no tuberculosa en nuestro centro en 16 años. Resultados: Un 58% de la muestra eran varones y un 74%menores de 4 años. Se observó un discreto aumento de incidencia en verano. La demora media del diagnóstico fue de 20días. Los hallazgos clínicos fueron los siguientes: rechazo a la sedestación (57,9%), fiebre (42,1%), contractura muscular para espinal (31,5%), lumbalgia (31,5%), irritabilidad (26,3%), rechazo a la deambulación (21%) y dolor abdominal (15,7%). En los estudios analíticos destacó un aumento de la velocidad de sedimentación globular de forma prácticamente constante. El hemocultivo fue positivo en un 11,2% de los casos. La única punción-aspiración de disco realizada aisló colonias de Staphylococcusaureus. Las pruebas de imagen más sensibles fueron la gammagrafía ósea (91%) y la resonancia magnética (RM) de columna (86,6%). Las localizaciones más frecuentes fueron: L4-L5 (31,5%), L5-S1 (21%) y L3-L4 (15,8%). Todos los casos se trataron con reposo y un 89% de los pacientes recibió antibioterapia. La estancia media hospitalaria fue de 17 días. Hubo un caso de recidiva. Cuatro casos presentaron secuelas no limitantes. Conclusiones: La discitis es un cuadro más frecuente en la época preescolar. La clínica más frecuente al inicio es el rechazo a la sedestación y fiebre. La escasa incidencia y la inespecificidad de los síntomas explican la demora diagnóstica. La localización más frecuente es el área lumbosacra. La RM y la gammagrafía ósea son de gran utilidad en el diagnóstico de la discitis. El tratamiento se basa en antibioterapia, reposo e inmovilización(AU)

Aim: To describe the diagnosis and therapeutic management of childhood diskitis. Patients and methods: A retrospective review of 19 consecutive cases of diskitis diagnosed in our center over a 16-year period. Results: Fifty-eight percent of the patients were boys, 74%of them younger than 4 years old. A slight increase in the incidence was observed in summer. The mean delay in diagnosis was 20 days. The clinical findings were refusal to stand (57.9%), fever (42.1%), paraspinal muscle spasm (31.5%), back pain (31.5%), irritability (26.3%), refusal to walk (21%) and abdominal pain (15.7%). The analytical studies revealed an increase in the erythrocyte sedimentation rate in nearly every case. The blood culture was positive in 11.2% of the cases. In the one case in which aspiration of the disk space was performed, Staphylococcus aureus was isolated. Radionuclide bones can and magnetic resonance imaging were the most sensitive tests (91% and 86.6%, respectively). The most common sites were L4-L5 (31.5%), L5-S1 (21%) and L3-L4 (15.8%). All the patients were treated with immobilization and 89% received antibiotics. The mean hospital stay was 17 days. There was one case of recurrence. Four patients presented sequelae. Commentaries: Diskitis is more frequent among preschool children. The most common onset symptoms are refusal tostand and fever. The low incidence and lack of specificity of the symptoms explain the diagnostic delay. The lumbar region is the most frequent location. Radionuclide bone scan and magnetic resonance imaging are of great utility in the diagnosis of diskitis. Treatment is based on antibiotics and immobilization(AU)

[Tumor necrosis factor receptor-associated periodic syndrome]. / Síndrome periódico asociado al receptor del factor de necrosis tumoral.

Tumoral necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominantly inherited disease belonging to the hereditary periodic fever syndromes, which are the main subgroup among systemic autoinflammatory diseases. TRAPS is characterized by prolonged and recurrent inflammatory attacks associated with fever and an acute phase reaction. Articular, cutaneous, ocular and abdominal symptoms may also be present. We describe the case of a 4-year-old boy with recurrent inflammatory episodes, fever and cutaneous symptoms who was diagnosed with TRAPS. We review the clinical and laboratory findings, genetic diagnosis, and treatment approach in this disease.

Síndrome periódico asociado al receptor del factor de necrosis tumoral / Tumor necrosis factor receptor-associated periodic syndrome

El síndrome periódico asociado al receptor del factor de necrosis tumoral (TRAPS) es una enfermedad hereditaria autosómica dominante que se engloba dentro de los síndromes hereditarios de fiebre periódica, los cuales constituyen a su vez el principal subgrupo dentro de las enfermedades autoinflamatorias sistémicas. El TRAPS se caracteriza por episodios inflamatorios prolongados, recurrentes, en los que se objetiva fiebre y parámetros analíticos inflamatorios elevados que pueden acompañarse de clínica articular, cutánea, ocular y abdominal. Se presenta el caso de un niño de 4 años de edad con episodios inflamatorios recurrentes caracterizados por fiebre asociada a manifestaciones cutáneas diagnosticado de TRAPS. Se revisan los hallazgos clínicos, analíticos, diagnóstico genético y tratamiento de esta enfermedad (AU)

Tumoral necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominantly inherited disease belonging to the hereditary periodic fever syndromes, which are the main subgroup among systemic autoinflammatory diseases. TRAPS is characterized by prolonged and recurrent inflammatory attacks associated with fever and an acute phase reaction. Articular, cutaneous, ocular and abdominal symptoms may also be present. We describe the case of a 4-year-old boy with recurrent inflammatory episodes, fever and cutaneous symptoms who was diagnosed with TRAPS. We review the clinical and laboratory findings, genetic diagnosis, and treatment approach in this disease (AU)

Vasculitis cerebral asociada a colitis ulcerosa / Cerebral vasculitis associated with ulcerative colitis

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Síndromes febriles periódicos con manifestaciones articulares / Periodic fever syndromes with joint involvement

Los síndromes febriles recurrentes se caracterizan por la presencia de signos y síntomas que traducen la existencia de inflamación. El síntoma común a todos ellos es la fiebre. Acompañando ésta, aparecen manifestaciones inflamatorias en otros órganos y sistemas, según el síndrome al que caractericen. Esta inflamación, en sus múltiples localizaciones, tiene un curso autolimitado y recurrente, lo que sugiere un funcionamiento incorrecto en su sistema de regulación no mediada por agentes externos y en la que existe suficiente evidencia científica para pensar que está producida por la función anómala de determinados genes que codifican para productos que intervienen en la respuesta inflamatoria, lo que hace que tarden en aparecer los componentes de respuesta antinflamatoria, o que sólo aparezcan ante unos estímulos inflamatorios suficientemente elevados como para tener una expresividad clínica (AU)