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Trombocitopenia fetal/neonatal aloinmune. Revisión a propósito de un caso / Foetal/neonatal alloimmune thrombocytopenia. A review and case report

La trombocitopenia fetal/neonatal aloinmune (TFNA) es la causa más frecuente de trombocitopenia grave en el recién nacido. Es un proceso agudo donde las plaquetas fetales son destruidas durante la gestación por un anticuerpo de tipo IgG presente en la madre aloinmunizada. En la raza caucásica, tiene especificidad frente al antígeno específico plaquetar HPA-1a en más del 80% de los casos. La hemorragia intracraneal, que ocurre hasta en un 30%, es la complicación más grave, con un 10% de mortalidad y un 20% de secuelas neurológicas irreversibles. El alto riesgo de repetición de hemorragia grave en futuras gestaciones obliga a plantearse profilaxis o tratamiento antenatal. El diagnóstico precoz puede permitir administrar un tratamiento eficaz basado en la transfusión de plaquetas de fenotipo HPA compatible o de inmunoglobulinas endovenosas. Presentamos el caso de una gestante de 27 años, que en la semana 35 de su segunda gestación fue diagnosticada por ecografía de hidrocefalia fetal bilateral. En la cesárea realizada en la semana 36, el neonato presentó hematomas en hombro y glúteo izquierdos, macrocefalia con fontanelas a tensión y salida de líquido cefalorraquídeo hemorrágico tras la colocación de un catéter de derivación externo. El hemograma reveló trombocitopenia grave (9 x 109/L). Ante sospecha clínica de TFNA, se transfundieron plaquetas de donante no fenotipado para el HPA-1a y se inició tratamiento con inmunoglobulinas endovenosas, con recuperación de la trombocitopenia, pero con secuelas neurológicas probablemente irreversibles. El estudio inmunohematológico confirmó el fenotipo materno HPA-1a negativo, el fenotipo neonatal HPA-1a positivo y la presencia de aloanticuerpos anti-HPA-1a en el suero materno. La profilaxis y el tratamiento continúan siendo, en la actualidad, motivo de discusión y controversia, así como la posibilidad de realizar un cribado antenatal (AU)

Foetal/neonatal alloimmune thrombocytopenia is the most common cause of severe thrombocytopenia in the newborn. It is an acute disorder which implies that foetal platelets are destroyed during the pregnancy due to a maternal alloimmune IgG antibody. More than 80% of Caucasians are HPA-1a specific. Intracranial haemorrhage, which occurs in 30% of cases, is the most serious complication, with a 10% mortality rate or a 20% rate of irreversible neurological sequels. The high risk of a recurrence of serious bleeding in future pregnances led us to consider prophylaxis or prenatal treatment. An early diagnosis of this process allows an effective therapy to be carried out based on the infusion of compatible phenotype HPA platelets or endovenous immunoglobulins. We present the case of a 27 year old pregnant woman, who in the 35th week of a second pregnancy was diagnosed using echography with a bilateral foetal hydrocephaly. After caesarean delivery in the 36th week, the newborn presented haematomas in the left shoulder and gluteus, macrocephalia with tension of the fontanellas and hemorrhagic cerebrospinal fluid after insertion of an external ventricular derivation catheter. The haemogram revealed a severe trombocytopenia (9 x 109/L). In the light of clinical suspicion of foetal/neonatal alloimmune thrombocytopenia, infusion was made of platelets from a non-phenotyped donor for the HPA-1a system, and an endovenous immunoglobulin treatment was followed, with a recovery of platelet counts, but with neurological sequels that are probably irreversible. The immunohaematologal study confirmed the negative HPA-1a maternal phenotype, the neonatal HPA-1a positive phenotype and the presence of anti-HPA-1a alloantibodies in the maternal serum. Nowadays, the prophylaxis and treatment continue to be a controversial issue that is open to discussion, as is the possibility of implementing antenatal screening (AU)

[Foetal/neonatal alloimmune thrombocytopenia. A review and case report]. / Trombocitopenia fetal/neonatal aloinmune. Revisión a propósito de.

Foetal/neonatal alloimmune thrombocytopenia is the most common cause of severe thrombocytopenia in the newborn. It is an acute disorder which implies that foetal platelets are destroyed during the pregnancy due to a maternal alloimmune IgG antibody. More than 80% of Caucasians are HPA-1a specific. Intracranial haemorrhage, which occurs in 30% of cases, is the most serious complication, with a 10% mortality rate or a 20% rate of irreversible neurological sequels. The high risk of a recurrence of serious bleeding in future pregnancies led us to consider prophylaxis or prenatal treatment. An early diagnosis of this process allows an effective therapy to be carried out based on the infusion of compatible phenotype HPA platelets or endovenous immunoglobulins. We present the case of a 27 year old pregnant woman, who in the 35th week of a second pregnancy was diagnosed using echography with a bilateral foetal hydrocephaly. After caesarean delivery in the 36th week, the newborn presented haematomas in the left shoulder and gluteus, macrocephalia with tension of the fontanellas and hemorrhagic cerebrospinal fluid after insertion of an external ventricular derivation catheter. The haemogram revealed a severe trombocytopenia (9 x 109/L). In the light of clinical suspicion of foetal/neonatal alloimmune thrombocytopenia, infusion was made of platelets from a non-phenotyped donor for the HPA-1a system, and an endovenous immunoglobulin treatment was followed, with a recovery of platelet counts, but with neurological sequels that are probably irreversible. The immunohaematologal study confirmed the negative HPA-1a maternal phenotype, the neonatal HPA-1a positive phenotype and the presence of anti-HPA-1a alloantibodies in the maternal serum. Nowadays, the prophylaxis and treatment continue to be a controversial issue that is open to discussion, as is the possibility of implementing antenatal screening.

Deterioro cognitivo en la esclerosis múltiple / Cognitive deterioration in multiple sclerosis

Entre la variada sintomatología de la esclerosis múltiple, se encuentra la alteración de funciones superiores (déficit cognitivo), que repercute considerablemente en la calidad de vida de los pacientes. Las antiguas descripciones de la enfermedad raramente diferencian la afectación cognitiva de la categoría más general de "síntomas mentales", que engloba también a un amplio rango de trastornos afectivos. Hacia 1960 empiezan a utilizarse los tests neuropsicológicos, y es a partir de los años 70 cuando se logra distinguir claramente entre el deterioro de funciones superiores y los aspectos psicoafectivos en la enfermedad. El patrón del deterioro cognitivo en los pacientes con esclerosis múltiple no es uniforme. En las fases iniciales de la enfermedad es, en general, leve y de comienzo insidioso, aunque la variabilidad interindividual es amplia, dependiendo de las alteraciones anatomopatológicas predominantes en las lesiones y de su número y localización. En los casos más graves, se puede incluir dentro del discutido término de la demencia subcortical, con enlentecimiento intelectual, problemas de atención, alteraciones del razonamiento abstracto, fallos en la resolución de problemas y disfunción de la memoria. Es una complicación casi invariable de las etapas avanzadas de la enfermedad, ya que las lesiones caracterizadas por la pérdida axonal afectan a amplias zonas de sustancia blanca, lo que determina la desaferentización de varias áreas corticales de asociación. No parece existir correlación entre el deterioro cognitivo y las variables de la enfermedad consideradas de modo independiente, como los datos demográficos, el curso clínico, alteraciones del humor, consumo de medicación o fatiga. Aunque evidentemente las formas secundariamente progresivas con mayor duración de la enfermedad y acúmulo de carga lesional son las que presentan mayor deterioro. Las actuales técnicas de neuroimagen han podido demostrar una correlación del deterioro cognitivo con la existencia de aumento del tamaño ventricular, lesiones periventriculares y atrofia del cuerpo calloso. (AU)

[Cognitive deterioration in multiple sclerosis]. / Deterioro cognitivo en la esclerosis múltiple.

Amongst the varied symptomology of multiple sclerosis is to be found the alteration of higher functions (cognitive deficit), which has considerable repercussions on the quality of life of patients. The old descriptions of the disease rarely differentiate cognitive affectation from the more general category of "mental symptoms", which also includes a broad range of affective disorders. Towards 1960 neuropsychological tests began to be employed, and it was from the 1970s onwards that a clear distinction was drawn between deterioration of the higher functions and psycho-affective aspects in the disease. The pattern of cognitive deterioration in patients with multiple sclerosis is not uniform. During the initial phases of the disease it is, in general, light and it has an insidious start, although inter-individual variability is wide, depending on the predominant pathological alterations in the lesions and on their number and localisation. In more severe cases, it is possible to include within the debatable term of subcortical dementia, intellectual slowness, problems of attention, alterations in abstract reasoning, shortcomings in the resolution of problems and memory dysfunction. It is an almost invariable complication of the advanced stages of the disease, since the lesions characterised by axonal loss affect broad areas of white matter, which determines the deafferentation of several areas of cortical association. There does not appear to be any correlation between cognitive deterioration and the variables of the disease considered in an independent way, such as demographic data, clinical course, alterations of mood, consumption of medicines or fatigue. Although, evidently, the disease's progressive secondary forms of greater duration and the accumulation of lesions are what present the greatest deterioration. With present-day techniques of neuroimaging it has been possible to show a correlation between cognitive deterioration and the existence of an increase in ventricular size, periventricular lesions and atrophy of the callous body.

Grand mal seizure and clobutinol overdose.

We report the case of a previously healthy girl who developed a grand mal seizure after an inappropriate dose of clobutinol and had a good response to iv diazepam.