Una rareza infradiagnosticada: síndrome de Parsonage-Turner (neuritis braquial aguda) / A rare and seldom diagnosed condition: Parsonage-Turner Syndrome (acute brachial neuritis)

El hombro doloroso es un motivo de consulta frecuente en centros de Atención Primaria y urgencias hospitalarias pediátricas. Establecer un correcto diagnóstico diferencial evitará la iatrogenia sobre el paciente. Presentamos un caso de Síndrome de Parsonage-Turner (también conocido como neuritis braquial aguda) que, aunque es causa infrecuente de hombro doloroso, presenta una clínica muy sugestiva caracterizada por dolor agudo seguido de síntomas neurológicos de instauración tórpida. Como pruebas complementarias (se trata de un diagnóstico de exclusión) son de utilidad el electromiograma y la resonancia magnética. Presenta una evolución favorable con resolución espontánea, aunque está demostrado el beneficio del tratamiento antiinflamatorio y rehabilitador (AU)

The painful shoulder is a common condition for visiting in primary care and hospital emergencies. Establishing a correct differential diagnosis would prevent the iatrogenic patient. Therefore we consider appropriate presenting a case of Parsonage-Turner Syndrome (also known as acute brachial neuritis) which, although it is a rare cause of painful shoulder, it has a very suggestive clinical presentation: acute pain is followed by torpid onset of neurological symptoms. It is an exclusion diagnosis, although electromyogram and magnetic resonance imaging are useful tests. It presents a favourable prognosis with spontaneous resolution although anti-inflammatory treatment and rehabilitation show benefits (AU)

[Hemophagocytic syndrome secondary to visceral leishmaniasis]. / Síndrome hemofagocítico secundario a leishmaniasis visceral.

Haemophagocytic syndrome is a disease diagnosed according to clinical and analytical criteria, related to many infectious diseases. It is exceptionally described in patients infected with Leishmania. Visceral leishmaniasis is an uncommon disease in our country except in some areas where it is endemic. Its diagnosis is sometimes difficult and the use of other methods currently available is needed. Haemophagocytic syndrome treatment is based on established chemotherapy protocols, but when it is secondary to Visceral Leishmaniasis, it may be an exception, since the abnormalities can be resolved by treatment of the infection itself. This treatment has improved recently as Liposomal Amphotericin B has replaced classic antimonials, being more beneficial due to less adverse effects and a shorter treatment time.

Síndrome hemofagocítico secundario a leishmaniasis visceral / Hemophagocytic syndrome secondary to visceral leishmaniasis

El síndrome hemofagocítico es una enfermedad diagnosticada basándose en criterios clínicos y analíticos, relacionada con numerosas entidades infecciosas. De forma excepcional se ha descrito en pacientes infectados con el parásito Leishmania. La leishmaniasis visceral es una patología infrecuente en nuestro país, salvo en zonas concretas donde es endémica. Su diagnóstico en ocasiones es difícil y hay que recurrir a varios de los métodos actualmente disponibles. El tratamiento del síndrome hemofagocítico se fundamenta en pautas quimioterápicas protocolizadas, aunque puede representar una excepción cuando es secundario a la leishmaniasis visceral, ya que el tratamiento antiinfeccioso suele resolver las alteraciones por sí mismo. Dicha terapia ha evolucionado en los últimos tiempos al sustituir la anfotericina B liposomal a las pautas clásicas con antimoniales y logrando beneficios por sus menores efectos secundarios y por acortar el tiempo de tratamiento (AU)

Haemophagocytic syndrome is a disease diagnosed according to clinical and analytical criteria, related to many infectious diseases. It is exceptionally described in patients infected with Leishmania. Visceral leishmaniasis is an uncommon disease in our country except in some areas where it is endemic. Its diagnosis is sometimes difficult and the use of other methods currently available is needed. Haemophagocytic syndrome treatment is based on established chemotherapy protocols, but when it is secondary to Visceral Leishmaniasis, it may be an exception, since the abnormalities can be resolved by treatment of the infection itself. This treatment has improved recently as Liposomal Amphotericin B has replaced classic antimonials, being more beneficial due to less adverse effects and a shorter treatment time (AU)

[Partial duplication of chromosome 4q (q31, q35): Auriculo-acro-renal syndrome]. / Duplicación parcial del cromosoma 4q (q31, q35): síndrome aurículo-acro-renal.

The partial trisomy 4q is a strange chromosomal illness. This illness is caused by the duplication of a portion of chromosome 4. In most of the cases, it is the result of a balanced translocation in one of the progenitors. The "de novo" appearance is less common. We present a patient with a partial "de novo" duplication in the distal segment of the long arm of chromosome 4 (q31, q35), in association with Robertsonian translocation between chromosomes 14 and 21. This association has not been described previously. In the 4q duplication, the relationship between the phenotype and the parts of the duplicated segment is not well defined, although it seems clear that the renal anomalies and/or thumbs abnormalities are a characteristic manifestation. We have reviewed the literature and, of the cases previously described with trisomy q31-35, we came to the conclusion that this region of chromosome 4 may also be involved in constituting the "Syndrome of partial trisomy 4q" or Auriculo-acro-renal Syndrome".

Duplicación parcial del cromosoma 4q (q31, q35): síndrome aurículo-acro-renal / Partial duplication of chromosome 4q (q31, q35): auriculo-acro-renal syndrome

La trisomía parcial 4q es una enfermedad cromosómica rara, causada por una duplicación de una porción del cromosoma 4. En la mayoría de los casos resulta de una translocación balanceada de uno de los progenitores; siendo menos frecuente la aparición de novo. Presentamos un paciente con una duplicación parcial de novo del segmento distal del brazo largo del cromosoma 4 (q31, q35) asociada a translocación robertsoniana entre los cromosomas 14 y 21; asociación previamente no descrita. En la duplicación 4q no queda bien definida la relación entre el fenotipo y las partes del segmento duplicadas, aunque parece claro que anomalías renales y/o de pulgares son una manifestación característica. Revisamos la literatura médica, y de los casos previamente descritos con trisomía q31-35 concluimos que esta región del cromosoma 4 también estaría comprometida en constituir el "síndrome de la trisomía parcial 4q" o "síndrome aurículo-acro-renal"(AU)

The partial trisomy 4q is a strange chromosomal illness. This illness is caused by the duplication of a portion of chromosome 4. In most of the cases, it is the result of a balanced translocation in one of the progenitors. The "de novo" appearance is less common. We present a patient with a partial "de novo" duplication in the distal segment of the long arm of chromosome 4 (q31, q35), in association with Robertsonian translocation between chromosomes 14 and 21. This association has not been described previously. In the 4q duplication, the relationship between the phenotype and the parts of the duplicated segment is not well defined, although it seems clear that the renal anomalies and/or thumbs abnormalities are a characteristic manifestation. We have reviewed the literature and, of the cases previously described with trisomy q31-35, we came to the conclusion that this region of chromosome 4 may also be involved in constituting the "Syndrome of partial trisomy 4q" or Auriculo-acro-renal Syndrome" (AU)

Síndrome de Walker-Warburg en gemelos de etnia gitana / No disponible

No disponible