The neurologist · 2009
Sjogren-larsson syndrome: case report and review of neurologic abnormalities and ichthyosis.
Клинический случайСтатьяОбзорНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Dutra Lívia Almeida, de Aquino Camila Catherine Henriques, Barsottini Orlando Graziani Povoas
Аннотация
INTRODUCTION: Sjogren-Larsson syndrome (SLS) is characterized by the triad of ichthyosis, mental retardation, and spastic diplegia or quadriplegia. The hallmark of SLS is ichthyosis. We report a case and review the major differential diagnosis of SLS.
CASE REPORT: A 21-year-old woman presented with seizures, mental retardation, spastic diplegia, and ichthyosis since birth. Computed tomography scan revealed hypodense areas in the periventricular white matter. Skin biopsy demonstrated a lamellar ichthyosis. These findings were compatible with SLS.
CONCLUSION: When ichthyosis is associated with spasticity and mental retardation, one should consider SLS. If hypogonadism, ataxia, retinitis, cardiomyopathy, or dwarfism is present, other diagnosis rather than SLS should be investigated.
CASE REPORT: A 21-year-old woman presented with seizures, mental retardation, spastic diplegia, and ichthyosis since birth. Computed tomography scan revealed hypodense areas in the periventricular white matter. Skin biopsy demonstrated a lamellar ichthyosis. These findings were compatible with SLS.
CONCLUSION: When ichthyosis is associated with spasticity and mental retardation, one should consider SLS. If hypogonadism, ataxia, retinitis, cardiomyopathy, or dwarfism is present, other diagnosis rather than SLS should be investigated.