Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review.

ABSTRACT:

Background

Inborn errors of metabolism (IEMs) have been anecdotally reported in the literature as presenting with features of cerebral palsy (CP) or misdiagnosed as 'atypical CP'. A significant proportion is amenable to treatment either directly targeting the underlying pathophysiology (often with improvement of symptoms) or with the potential to halt disease progression and prevent/minimize further damage.

Methods

We performed a systematic literature review to identify all reports of IEMs presenting with CP-like symptoms before 5 years of age, and selected those for which evidence for effective treatment exists.

Results

We identified 54 treatable IEMs reported to mimic CP, belonging to 13 different biochemical categories. A further 13 treatable IEMs were included, wh

SUBMITTER: Leach EL 

PROVIDER: S-EPMC4273454 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature