ABSTRACT
La retinopatía de la prematuridad es una enfermedad dinámica vasoproliferativa de la retina inmadura postnatal que afecta a los bebés prematuros. Cuando aparecen signos de atipicidad en su diagnóstico o evolución deben descartarse otras entidades vasculares de la retina, que generalmente tienen un trasfondo genético y semejan o coexisten con dicha entidad. Se presenta un caso con características de Retinopatía del prematuro y algunos signos de atipicidad. Se describe su manejo y evolución, así como una breve descripción de las entidades que conforman el diagnóstico diferencial(AU)
Retinopathy of prematurity is a dynamic vasoproliferative disease of the immature postnatal retina that affects premature babies. When signs of atypicality appear in its diagnosis or evolution, other vascular entities of the retina must be ruled out, which generally have a genetic background and resemble or coexist with said entity. We present a case with characteristics of Retinopathy of prematurity and some signs of atypicality. Its management and evolution are described, as well as a brief description of the entities that make up the differential diagnosis(AU)
Subject(s)
Humans , Male , Infant, Newborn , Retinopathy of Prematurity/diagnosis , Diagnosis, Differential , RetinaABSTRACT
Cataplexy is a transient loss of muscle tone that can be triggered by emotions such as laughter, excitement or fear. Other causes of cataplexy include Niemann-Pick type C Disease, Angelman Syndrome, Norrie Disease, Prader-Willi Syndrome. In addition, cataplexy can be a side effect of several drugs (eg, lamotrigine, clozapine, and gamma-hydroxybutyrate). Yet, the most prevalent causes of cataplexy without narcolepsy are rare genetic diseases; which explains why cataplexy is classically linked to narcolepsy. Therefore, it is essential disconnecting cataplexy from narcolepsy especially in pediatric population and after use of a few medications. In this review, we described few conditions of cataplexy not related to narcolepsy. We performed a review of literature (MEDLINE and EMBASE database), without limited date or publication restrictions.
Subject(s)
Cataplexy/etiology , Humans , NarcolepsyABSTRACT
La enfermedad de Norrie es un raro trastorno genético ligado al cromosoma X que afecta principalmente a los ojos y casi siempre conduce a la ceguera. Además de los síntomas oculares congénitos, algunos pacientes sufren una pérdida progresiva de la audición sobre todo a partir de su segunda década de vida, mientras que otros afectados pueden tener problemas mentales. Los pacientes con la enfermedad de Norrie pueden desarrollar cataratas y leucocoria, junto con otras afecciones de desarrollo en el ojo, como la contracción del globo ocular y el desgaste del iris. Se presentó un niño de cuatro años con ceguera congénita y antecedentes familiares de cuatro tíos y primos de sexo masculino, ciegos desde el nacimiento; su mamá preocupada solicitó asesoramiento genético ante un nuevo embarazo a la cual le brindó toda la información necesaria y se le realizó estudio molecular de sexo.
Norrie disease is a rare genetic disorder that is associated with chromosome X, affecting the eyes and often causes blindness. Besides congenital ocular symptoms, some patients suffer from progressive hearing loss, mainly from its second decade of life, while others may be affected by mental problems. The patients with this diagnosis may develop cataracts and leukocoria, together with other development eye disorders, such as shrinking of the eyeball and the iris wear. This paper presented a four- year- old boy with congenital blindness and family history of four uncles and male cousins, blind from birth, his mother worried requested genetic consultation, and she needed information to take into consideration for her next pregnancy. The informed everything about the disease and molecular study was performed.