Publication: Embarazo y parto en mujeres diagnosticadas de narcolepsia-cataplejia. Estudio de casos y controles de una serie
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2017-02-03
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Universidad Complutense de Madrid
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Abstract
La Narcolepsia con cataplejia (NC) es un raro trastorno de sueño, crónico, incapacitante, de posible etiología autoinmune. Se caracteriza principalmente por excesiva somnolencia diurna y cataplejías. Otros síntomas asociados son: alucinaciones hipnagógicas y/o hipnopómpicas, parálisis del sueño, sueño fragmentado y episodios de comportamientos automáticos. Se estima la prevalencia de la narcolepsia con cataplejía en torno a 20 a 50 por cada 100.000 habitantes, con una incidencia de 0,3 a 0,6 por cada 100.000/habitantes/año. La narcolepsia es causada por el déficit selectivo de las neuronas responsables de la producción de hipocretinas/orexina en el hipotálamo lateral. El análisis del líquido cefalorraquídeo mostrará un nivel de hipocretina disminuido. La edad de comienzo presenta dos picos; uno en la adolescencia y otro en torno a la década de los veinte años. Sin embargo, la enfermedad puede debutar tan pronto como los cinco años de edad o después de los 40 años, al igual que otras enfermedades autoinmunes. A pesar de los grandes avances en la comprensión de la patogenia y fisiopatología de la enfermedad, muchos casos permanecen infradiagnosticados. La variabilidad de los síntomas y el hecho de que éstos aparecen gradualmente, pueden contribuir a un diagnóstico erróneo. Además, la nosología exacta de la narcolepsia es todavía controvertida por distintas razones...
Narcolepsy with cataplexy (NC) is a rare, disabling, sleep chronic disorder due to possible autoimmune etiology, characterized by excessive daytime sleepiness and cataplexy. Other ancillary symptoms are: hypnagogic and/or hypnopompic hallucinations, sleep paralysis and disturbed nocturnal sleep and automatic behavior, among others. Narcolepsy with cataplexy affects 20 to 50 per 100.000 individuals, with an incidence of 0.3-0.6 per 100.000/individuals/year. Evidence indicates that narcolepsy is caused by the loss of hypocretin/orexin neurons in the lateral hypothalamus, and the best biological marker for human narcolepsy is the reduction of hypocretin in the cerebrospinal fluid. Narcolepsy typically begins in the teens and early twenties, but may occur as early as five years of age of after 40 years as other autoimmune diseases. Despite major advances in understanding the pathogenesis and physiopathology of the disease, many cases remain underdiagnosed. The variability of symptoms and the fact that these appear gradually might contribute to misdiagnosis. In addition, the exact nosology of narcolepsy is still controversial for several reasons. The management of pregnancy in patients with narcolepsy, including the risk to both the mother and the fetus related to the disease, is challenging as far as the medication is concern. Congenital abnormalities cannot be excluded...
Narcolepsy with cataplexy (NC) is a rare, disabling, sleep chronic disorder due to possible autoimmune etiology, characterized by excessive daytime sleepiness and cataplexy. Other ancillary symptoms are: hypnagogic and/or hypnopompic hallucinations, sleep paralysis and disturbed nocturnal sleep and automatic behavior, among others. Narcolepsy with cataplexy affects 20 to 50 per 100.000 individuals, with an incidence of 0.3-0.6 per 100.000/individuals/year. Evidence indicates that narcolepsy is caused by the loss of hypocretin/orexin neurons in the lateral hypothalamus, and the best biological marker for human narcolepsy is the reduction of hypocretin in the cerebrospinal fluid. Narcolepsy typically begins in the teens and early twenties, but may occur as early as five years of age of after 40 years as other autoimmune diseases. Despite major advances in understanding the pathogenesis and physiopathology of the disease, many cases remain underdiagnosed. The variability of symptoms and the fact that these appear gradually might contribute to misdiagnosis. In addition, the exact nosology of narcolepsy is still controversial for several reasons. The management of pregnancy in patients with narcolepsy, including the risk to both the mother and the fetus related to the disease, is challenging as far as the medication is concern. Congenital abnormalities cannot be excluded...
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Tesis inédita de la Universidad Complutense de Madrid, Facultad de Medicina, Departamento de Obstetricia y Ginecología, leída el 27-01-2016