Revisión de los pacientes pediátricos sometidos a troqueotomía en Aragón, La Rioja y Soria. Periodo 1988-2000 / Review of pediatric patients subjected to trachetomy in Aragon, La Rioja and Soria, Spain, between 1988 and 2000

Introducción y objetivo. El avance en los conocimientos y la tecnología médica, así como la ampliación de criterios éticos para mejorar la calidad de vida de pacientes con enfermedad crónica, genera nuevas exigencias en su tratamiento, entre ellas, la mejoría de la función respiratoria. La revisión de los pacientes pediátricos sometidos a traqueotomía en los últimos años contribuirá a conocer la situación actual y a establecer una referencia, comparativa en el futuro. Pacientes y métodos: Se revisan, desde una perspectiva diagnóstica, los pacientes pediátricos de Aragón, La Rioja y Soria, sometidos a traqueotomía entre enero de 1988 y diciembre de 2000.Resultados: Se ha realizado traqueotomía a 17 pacientes. De urgencia en 5 casos: dos por laringotraqueítis aguda, dos por síndrome de Down (uno con neumopatía crónica y otro con cardiopatía congénita. intervenida) y uno por distrofia muscular deficiente en merosina. Programada en 12 casos: un síndrome de Pierre Robin, dos niños con afectación prenatal de pares craneales, una encefalopatía prenatal grave, una encefalopatía por casi ahogamiento, una anomalía de la charnela craneocervical con alteración de la unión bulbomedular, una lesión medular traumática C1-C2, un linfangioma quístico cervicomediastínico, una enfermedad metabólica no catalogada con leucodistrofia y polineuropatía neuroaxonal, una encefalopatía mitocondrial grave, una forma infantil grave de miopatía mitocondrial y una malformación de Chiari tipo II. Comentarios: Destaca la importancia de la enfermedad neurológica en cualquier zona del sistema nervioso central y de la unidad neuromuscular, como causa para realización de una traqueotomía (AU)

[Cases of symptomatic epilepsy at a regional reference neuropediatric unit]. / Casuística de epilepsia sintomática en una unidad de neuropediatría de referencia regional.

OBJECTIVE: The objective of this study was to analyze, from an aetiological angle, the cases seen with symptomatic epilepsy by the Seccion de Neuropaediatria del Hospital Miguel Servet de Zaragoza. PATIENTS AND METHODS: We studied the cases diagnosed as having symptomatic epilepsy between May 1990 and November 1999. RESULTS: Of a total of 4,466 children assessed during the study period, the diagnosis of epilepsy was established in 461 children (10.3% of the total). This included idiopathic epilepsy in 110 cases (23.9%), cryptogenic epilepsy in 119 cases (25.8%) and symptomatic epilepsy in 232 cases (50.3%). The aetiologies of the symptomatic epilepsies were: prenatal encephalopathies in 137 cases (59%), perinatal encephalopathies in 33 (14.3%), postnatal encephalopathies (due to accidents, acquired infections and postnatal cerebrovascular accidents) in 20 (9%), tumours ( including the post-operative period) in 14 (6%), neurocutaneous syndromes in 13 (5.6%), metabolic and degenerative disorders in 13 (5.6%) and one case of vascular malformation. CONCLUSIONS: The symptomatic epilepsies make up half the epilepsies evaluated by the department of neuropaediatrics. In 59% the cause was prenatal. Other causes of symptomatic epilepsy were also represented in the series. A detailed study of these should help us to understand and manage them better. We consider aetiological aspects to be very important in the study of epilepsy, since the aetiology is one of the most important factors in prognosis.

[Cerebral ischemia following varicella. A case report]. / Accidente cerebrovascular isquémico tras varicela. A propósito de un caso.

INTRODUCTION: Varicella in childhood is a self-limiting disease which usually follows a benign course. However, a considerable number of complications occur, particularly involving the nervous system. On rare occasions hemiparesis has been reported following an ischemic cerebrovascular accident related to varicella. CLINICAL CASE: We report the case of a 4 year old boy who presented with right hemiparesis eight days after the onset of varicella. CAT and MR showed a cerebral infarct involving the left caudate nucleus, putamen and internal capsule. Other possible causes of cerebral infarct were ruled out. Four years later he had slight residual right hemiparesis. The pathogenesis may have been due to vasculitis of the intracranial arteries caused by direct invasion of the vessels by virus from the nearby nerve tissue. Another theory suggest similarities with moyamoya disease, suggesting that lesions of the head and neck stimulate the superior cervical ganglion and this, together with the production of circulating immuno-complexes may be the cause of the vasculopathy of the intracranial blood vessels. CONCLUSIONS: In most cases of cerebrovascular accidents occurring in childhood the cause is unknown. However, it is important to discover the cause since the risk of recurrence often depends on the primary disease. Once other commoner causes have been excluded, one should ask whether there is a history of varicella, since the prognosis is generally good and recurrence uncommon.

[McArdle's disease in a 14-year-old girl with fatigability and raised muscle enzymes]. / Enfermedad de McArdle en una niña de 14 años con fatigabilidad y elevación de las enzimas musculares.

INTRODUCTION: McArdle's disease is a disorder of muscle energy metabolism caused by a deficit of muscle phosphorylase. The typical form presents with fatigability muscle cramps and pains triggered by physical exercise. Some cases have few symptoms. We report the case of a 14 year old girl diagnosed on finding a significantly raised CPK, studied following her complaint of fatigability. CLINICAL CASE: A 14 year old girl presented with a CPK of 1,243 UI/l (normal 10-32) which had been requested in view of her fatigability. She had never had cramps, muscle pains or dark urine. Neurological examination was normal. The levels of CPK after intense exercise on the previous days were 7,459 UI/l, and after rest for one week were 283 UI/l (normal 25-230). The ischemic exercise test showed that she was unable to finish the test, with flat lactate and pyruvate curves and markedly raised ammonia (basal 89 and maximum 571 micrograms/dl). On muscle biopsy, the morphology of the striated muscle was seen to be normal and staining for myophosphorylase was negative. CONCLUSIONS: The fluctuations of muscle enzyme levels in relation to exercise orientate the diagnosis towards a disorder of muscle energy metabolism. To detect this, the investigation should be carried out following severe exercise for several days and then compared with a further test after some days of rest. The ischemic exercise test permits identification of defects of glycogenolysis, orientating the choice of suitable histochemical, enzymatic or molecular biological tests.