Batten disease: a rare case report and review of literature

Abstract

Batten disease (also known as Spielmeyer-Vogt-Sjögren-Batten disease) is a rare, fatal autosomal recessive neurodegenerative disorder. It is the most common form of a group of disorders called the neuronal ceroid lipofuscinoses (NCLs). The onset of this disease is between the ages of 5 and 8 years. The typical early signs are progressive vision loss, seizures, ataxia or clumsiness. This disease progresses slowly and ends in death in the late teens or early 20s, although some may live into their 30s. We report a case of young male patient, who presented with seizures and mental retardation, diagnosed to be having Batten disease based on clinical and radiological examination.