Síndrome de Rasmussen: una enfermedad autoinmune / Rasmussen's syndrome, an autoimmune disease

La enfermedad de Rasmussen es un trastorno cerebral inflamatorio, crónico y progresivo que se manifiesta con crisis focales motoras neocorticales resistentes al tratamiento y que culmina en un deterioro grave con hemiparesia, retraso cognitivo y afasia. Dentro de la fisiopatología de esta enfermedad se han involucrado infecciones virales, así como la existencia de anticuerpos contra el receptor GluR3 cerebral y se ha barajado la posible mediación celular T en el proceso inflamatorio cerebral. El tratamiento clásico consistía en hemisferectomías de distinta magnitud según la afectación cerebral existente. Muy recientemente se está empezando a estudiar la asociación de trastornos epilépticos resistentes al tratamiento con la implicación de fenómenos autoinmunes debido a la existencia de anticuerpos antidescarboxilasa del ácido glutámico (anti-GAD). El descubrimiento de esta asociación permitió un nuevo enfoque y se empezaron a ensayar tratamientos alternativos con inmunosupresores, inmunoglobulinas, corticoides, plasmaféresis, solos o en combinación, con éxito variable. Se describe el caso de un niño diagnosticado de enfermedad de Rasmussen en fase precoz en el que resultaron positivos los anticuerpos anti-GAD. Recibió tratamiento con inmunoglobulinas y corticoides, con lo cual desaparecieron los síntomas y se negativizaron los anticuerpos. (AU)

[Rasmussen's syndrome, an autoimmune disease]. / Síndrome de Rasmussen: una enfermedad autoinmune.

Rasmussen's disease is an inflammatory, chronic and progressive brain disorder that usually presents with neocortical focal seizures resistant to conventional treatment and culminates in severe deterioration with hemiparesis, cognitive decline and aphasia. Viral infections and antibodies to the GluR3 receptor have been implicated in the physiopathology of this illness and T-cell mediation may play a role in the cerebral inflammatory process. Classical treatment consists of hemispherectomy of various magnitudes depending on cerebral involvement. The association between therapy-resistant epilepsy and autoimmune phenomena due to antibodies against glutamic acid decarboxylase (anti-GAD) have very recently begun to be studied. The discovery of this association led to a new focus and alternative therapies with immunosuppressors, immunoglobulins, steroids and plasmapheresis, alone or in combination, have begun to be tested with variable success. We describe a boy who was diagnosed in the early stages of Rasmussen's syndrome. He tested positive for anti-GAD antibodies and received treatment with immunoglobulins and steroids. After treatment the boy tested negative for anti-GAD antibodies and he remains asymptomatic after ten months.

Rotura espontánea de bazo secundaria a mononucleosis infecciosa / Spontaneous splenic rupture secondary to infectious monoculeosis

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[Cohen's syndrome: non-causal association with vascular rings]. / Síndrome de Cohen: asociación no casual con anillos vasculares.

Cohen syndrome is an autosomal recessive disorder characterized by hypotonia, mental retardation, microcephalia, typical craniofacial features, myopia and chorioretinal dystrophy. The responsible gene has been mapped to chromosome 8q 22 (COH 1). Since it was described more than 100 patients have been reported. However, none of them has been associated with vascular rings. Our hospital has studied eight pediatric cases and 25% of them were related with vascular rings.

Síndrome de Cohen: asociación no casual con anillos vasculares / Cohen's syndrome non-causal association with vascular rings

El síndrome de Cohen es un trastorno autosómico recesivo que se caracteriza por la asociación de obesidad, hipotonía, retraso mental, microcefalia, dismorfia craneofacial típica, miopía y distrofia coriorretiniana. Se ha localizado el locus para el síndrome de Cohen en el cromosoma 8q 22 (COH 1). Desde su descripción más de cien pacientes han sido comunicados, no presentando ninguno de ellos asociación con anillos vasculares. Presentamos ocho casos pediátricos diagnosticados en nuestro hospital, la mayor serie publicada en España, de las cuales un 25 por ciento se asociaron con anillos vasculares (AU)

[Severe bone malformations in fetal valproic acid disease]. / Malformaciones esqueléticas severas en la fetopatía por ácido valproico.

The dysmorphogenic and teratogenic effects of valproic acid, when administered to pregnant women, have been noted in several reports. We report the case of a 3-month-old infant with multiple congenital anomalies, including severe skeletal malformations, congenital heart defect and facial dysmorphism, whose mother was treated with valproic acid (1000 mg/day) throughout the pregnancy. This is the second published case reporting major skeletal malformations and supports the possible teratogenic effects of valproic acid.

18q-syndrome and extraskeletal Ewing's sarcoma.

Cytogenetic studies carried out in a boy with multiple congenital anomalies showed a partial deletion of the long arm of chromosome 18. The child later developed an extraskeletal Ewing's sarcoma. The possible association of the tumour with 18q- syndrome is discussed.

[Sepsis in neonate, A 291 cases study (author's transl)]. / Sepsis en el período neonatal. Comentarios a una serie de 291 casos.

A four-year experience with sepsis in the neonate is described. Clinical picture, laboratory data and mortality of 291 newborn, aged 0-28 days, are analyzed. The rise in the incidence of septicemia in the group of newborn with clinical onset within the first 24 hours of life and the preterm 5. degrees to 9. degrees day of life, was commented. The need to develop a more effective profilaxis toward the reduction of morbidity and mortality is emphasized.

[Morbidity and mortality in low-birth-weight infants (1,000 g, or less (author's transl)]. / Cuidado intensivo de prematuros de muy bajo peso al nacimiento. Morbilidad y mortalidad en menores de 1.001 gramos

50 low-birth-weight infants (1,000 g. or less) admitted to an Intensive Care Unit from January 1972 up to December 1974 are evaluated. Obstetrical data maturity and morbidity are compared in order to investigate factors that might predispose survival of these infants. Significant differences in gestational age, birth weight and maturity have been encountered. Mortality rate increases with a low Apgar score at one and five minutes, a low hematocrit an admission, early appearance of apnea, respiratory distress, when ressuscitation was required, need for assisted ventilation and septicemia. Among the factors that improve the rate of survival are: being small for gestational age, early rupture of membranes and temperature on admission above 35.5 degrees (axillary). Problems most frequently encountered were respiratory distress, apnea, infection and metabolic disturbances. Mortality rate was 76%, lowered to 50% among the small for gestational age group. The main causes of death were sepsis, severe hypoxia and intracraneal hemorrhage.