Neurodegeneration in an adolescent with Sjogren-Larsson syndrome: a decade-long follow-up case report.

ABSTRACT:

Background

Sjogren-Larsson syndrome is a hereditary neurocutaneous syndrome that is non-progressive in nature. Although neuroregression has been reported in seizure-prone preschool children requiring anti-epileptic treatment, teenage-onset dystonia precipitating neurodegeneration without any immediate causal events has yet to be reported.

Case presentation

We describe a young woman with spastic diplegia and intellectual disability who began to show progressive neurological deterioration from 12 years of age, with the onset of dystonia and tremor. She was initially diagnosed with spastic cerebral palsy and periventricular leukomalacia based on brain magnetic resonance imaging. Follow-up brain imaging from 13 years of age did not reveal apparent changes, though abnormal electr

SUBMITTER: Cho KH 

PROVIDER: S-EPMC6114270 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature