Tratamiento exitoso con penicilina benzatina de dos pacientes con sospecha de PANDAS / Successful treatment with benzathine penicillin of two patients suspected of suffering from PANDAS

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[Williams-Beuren syndrome: presentation of 82 cases]. / Síndrome de Williams-Beuren: presentación de 82 casos.

OBJECTIVE: We performed a retrospective review of a series of 82 cases of Williams-Beuren syndrome (WBS) and associated diseases. MATERIAL AND METHODS: A series of 82 patients (47 males and 35 females) who consulted at the hospital because of mental retardation and/or congenital cardiopathy were included. The patients were studied mainly from a neurological and cardiological point of view, and secondarily because of endocrinological and nephrological problems. Since description of the chromosomal abnormalities provoking the syndrome, we perform karyotyping in all patients with suspected WBS. RESULTS: Alterations mainly consisted of distinctive facial appearance (100 %), mental retardation with friendly behavior (90 %), congenital cardiopathy (85.4 %), mostly consisting of supravalvular aortic stenosis (72 %), with (12 %) or without (60 %) pulmonary stenosis, and behavior typical of attention deficit-hyperactivity disorder, which usually manifested at the age of 4 to 5 years in both boys and girls. Approximately 90 % started to walk and speak later than average. Birthweight was below 3000 g in 65 % of the patients in whom this datum was included in the medical record. Eleven of the 13 patients (84.5 %) studied showed the typical deletion of WBS. CONCLUSION: Study of patients with WBS should be multidisciplinary. Most patients require help during schooling and subsequent vocational guidance.

Síndrome de Williams-Beuren: presentación de 82 casos / Williams-Beuren syndrome. PResentation of 82 cases

Objetivo: Revisión retrospectiva de una serie de 82 casos de síndrome de Williams-Beuren y los trastornos asociados. Material y métodos: Cohorte de 82 pacientes, 47 varones y 35 mujeres, que consultaron en hospital por retraso psicomotor y/o por cardiopatía congénita. Se estudiaron principalmente desde el punto de vista neurológico y cardiológico y, en segundo lugar, endocrinológico y nefrológico. Desde que se describió la alteración cromosómica que provoca el cuadro, se practica el cariotipo a todos los casos sospechosos de síndrome de Williams-Beuren. Resultados: Las alteraciones principales consistieron en: facies peculiar (100 por ciento); retraso psíquico con actitud amistosa (90 por ciento); cardiopatía congénita (85,4 por ciento), siendo las estenosis aórtica supravalvular, aislada (60 por ciento) o asociada a estenosis pulmonar (12 por ciento), la malformación más frecuente (72 por ciento); trastorno por déficit de atención con hiperactividad (SDAHA), que se apreciaba en la mayoría de los casos, varones y mujeres, a partir de los 5-6 años; iniciación de la marcha y del lenguaje tardíos en aproximadamente el 90 por ciento. El peso al nacer estaba por debajo de los 3.000 g en el 65 por ciento de los casos en que este dato era consignado en las historias clínicas. Once de nuestros 13 casos estudiados (84,5 por ciento) mostraron la deleción del síndrome de WilliamsBeuren. Conclusión: Los pacientes con este síndrome deben ser estudiados multidisciplinarmente. La mayoría de ellos precisan ayuda en su escolaridad y encauzamiento profesional posterior (AU)

Varón con hiperpigmentación cutaneomucosa generalizada y deterioro neurológico / Male with generalized cutaenous-mucosal hyperpigmentation and neurological deterioration

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[Hypoxic-ischemic encephalopathy in the full-term newborn infant. Recent advances, markers of hypoxia and therapeutic options]. / Encefalopatía hipóxico-isquémica del recién nacido a término. Recientes avances, marcadores de hipoxia y opciones terapéuticas.

INTRODUCTION: Hypoxic-ischemic encephalopathy is the neurological consequence of a nonprogressive encephalopathic clinical picture of the hypoxic-ischemic syndrome, caused by a mixture of reduced oxygenation of the blood with increased carbon dioxide (asphyxia) and a lack of tissue perfusion (ischemia). It is the chief cause of death during the perinatal period, and of nonprogressive neurological deficits in childhood. DEVELOPMENT AND CONCLUSIONS: Regarding neurophysiological factors, we emphasise the importance of re-perfusion and reoxygenation in hypoxia-ischemia, with increased oxidative stress, accumulation of oxygen and of hydroxyl radicles which lead to reduced local blood flow and changes in the DNA, enzyme systems and cell membranes. Most of the brain damage in the hypoxic-ischemic syndrome is due to activation of the inflammatory response itself occurring in the central nervous system. In this article we discuss the most important neuropathological lesions, their relation to the clinical findings, and neurological course in hypoxic-ischemic encephalopathy. Finally, we analyze current prognostic markers which have a clearly shown scientific basis to confirm their usefulness, and the most important aspects of treatment which may be used in full-term newborn babies with hypoxic-ischemic encephalopathy.

Encefalopatía hipóxico-isquémica del recién nacido a término.Recientes avances, marcadores de hipoxia y opciones terapéuticas / Hypoxic-ischemic encephalopathy in full-term newborn babies: recent advances, markers for hypoxia and therapeutic options

Introducción. La encefalopatía hipóxico-isquémica es la consecuencia neurológica de un cuadro encefalopático no progresivo del síndrome hipóxico-isquémico, que se produce por la mezcla de una disminución de la oxigenación sanguínea con elevación del anhídrido carbónico (asfixia) y un déficit de la perfusión tisular (isquemia). Es la mayor causa de mortalidad en el período neonatal y de los déficit neurológicos no progresivos de la infancia. Desarrollo y conclusiones. Respecto a los factores fisiopatológicos, se resalta la importancia de la reperfusión-reoxigenación en la hipoxia-isquemia, con aumento del estrés oxidativo, acúmulo de oxígeno y radicales hidroxilos que provocan una reducción del flujo local, alteraciones del ADN, sistemas enzimáticos y membranas celulares. Gran parte del daño cerebral en el síndrome hipóxico-isquémico se debe a la activación de la propia respuesta inflamatoria que se produce en el sistema nervioso central. En el presente artículo se examinan las lesiones neuropatológicas más importantes, su relación con la clínica y el curso neurológico de la encefalopatía hipóxicoisquémica. Por último, se analizan los marcadores pronósticos actuales que han tenido una base científica suficientemente probada como para corroborar su importancia y aquellos aspectos más relevantes del tratamiento que puede ser aplicados en los neonatos a término afectos de encefalopatía hipóxico-isquémica (AU)

[Idiopathic external hydrocephaly and familial macrocephaly in infancy]. / Hidrocefalia externa idiopática en la infancia y macrocefalia familiar.

Idiopathic external hydrocephalus is a frequent cause of macrocephaly in infants. The cranial CT scan shows an enlarged subarachnoid space, especially in the frontal area, with a prominent interhemispheric fissure and occasionally an enlargement of the ventricular system. Sixteen patients with this condition are reported; 7 of which had a family history of megalo-encephaly and 4 had delayed motor development, although it was transient in 3 of the cases. The cranial circumference was normal at about 18 months of age, but 4 patients had megalo-encephaly after 3 years of age. The radiological images were normal in all cases between 24 and 48 months of age without treatment.

Study of the prevalence of epilepsy among schoolchildren in Valladolid, Spain.

A population study was performed to estimate the prevalence of epilepsy in the juvenile population of Valladolid, Spain. Using a mixed questionnaire (postal-domiciliary), we studied a sample of 5,100 primary school pupils (aged between 6 and 14 years) and 48 pupils receiving state-run special education. We also identified all the students receiving private special education and from specific special education centers belonging to the same age group (90 and 145, respectively). The prevalence of epilepsy in the school age population on December 1, 1987 was estimated at 5.72/1,000 inhabitants. Our results are comparable to those of other studies in Western countries.

[Prevalence of febrile seizures in the school population of Valladolid]. / Estudio de prevalencia de crisis febriles en la población escolar de Valladolid.

We have carried out a study of population to estimate the prevalence of febrile seizures among the infant population in Valladolid. By means of a mixed type of inquiry (mailing and door-to-door) we have studied a sample of 5,100 primary school children (6-14 years) and 48 students from special education units (SEU) of state schools. In the same way, we have studied the whole of the students from SEU from private schools and special educations centres (SEC) of the same age range (90 and 145 students respectively). The prevalence of febrile seizures among schoolchildren, dated on December 1st 1987 was of 22.7 cases per 1,000 inhabitants. Our results are comparable with the ones obtained by other authors in occidental countries.