Narcolepsia en niños / Narcolepsy in children

Introducción. La narcolepsia es un trastorno neurológico caracterizado por somnolencia excesiva durante el día, con episodios recurrentes e irresistibles de sueño, que asocia en las formas completas cataplejía, alucinaciones hipnagógicas y parálisis del sueño. La incidencia comunicada en el adulto es 4-10/ 10.000. Un porcentaje considerable de adultos reconoce su inicio antes de los 15 años de edad. Es imprescindible la confirmación neurofisiológica de los períodos cortos de inicio de sueño REM. Caso clínico. Varón de 11 años, con hipersomnolencia diurna, trastorno de conducta y aumento de peso, que se evaluó en Unidad de Trastornos del Sueño mediante polisomnografía y test de latencias múltiples, confirmándose la sospecha de narcolepsia. Conclusiones. La narcolepsia es una enfermedad de inicio en la infancia y que habitualmente pasa desapercibida o erróneamente diagnosticada y tratada. Existen actualmente criterios válidos para identificar y diagnosticar a los niños con el trastorno. El tratamiento de estos pacientes debe orientarse a la adaptación del entorno al niño y la prevención de problemas psicosociales que origina, dada la pobre respuesta a los fármacos empleados (AU)

[Narcolepsy in children]. / Narcolepsia en niños.

INTRODUCTION: Narcolepsy is a neurological disorder characterized by excessive somnolence during the daytime, with recurrent, irresistible episodes of sleepiness. The complete forms are associated with cataplexy, hypnagogic hallucinations and sleep paralysis. The incidence reported in adults is 4 10/10,000. A considerable proportion of adults consider their disorder to have started before the age of 15 years. It is essential to have neurophysiological confirmation of the short period of the onset of REM sleep for diagnosis. CLINICAL CASE: An 11 year old boy with diurnal hypersomnolence, behavior disorder and weight gain. He was evaluated in the Sleep Disorder Unit by polysomnography and the multiple latency test, which confirmed the suspicion of narcolepsy. CONCLUSIONS: Narcolepsy is a disorder which starts during childhood and usually goes unnoticed or is erroneously diagnosed and treated. At the present time there are valid criteria for the identification and diagnosis of children with this disorder. Treatment of these patients should be orientated towards adaptation of the environment to the child and prevention of the psychosocial problems which may be caused by this disorder, in view of the poor response to the drugs used.

[Joubert syndrome. Study of a new case and review of the literature]. / Síndrome de Joubert. Estudio de un nuevo caso y revisión de la literatura.

A two-year old male affected by Joubert Syndrome (cerebellar vermix agenesis, mental retardation, respiratory rythm disturbs, ataxia and abnormal eye movements) is reported. A review of literature of fourteen previous cases is done. Early diagnosis of this syndrome is very important for later prognosic and genetic advice. Authors point out the usefulness of CT scan for diagnosis.