Clinical and biochemical footprints of inherited metabolic disease. V. Cerebral palsy phenotypes

Abstract

Cerebral palsy is the most common physical disability of childhood describing a heterogeneous group of neurodevelopmental disorders that cause activity limitation, but often are accompanied by disturbances of sensation, perception, cognition, communication and behavior, or by epilepsy. Inborn errors of metabolism have been reported in the literature as presenting with features of cerebral palsy. We reviewed and updated the list of metabolic disorders known to be associated with symptoms suggestive of cerebral palsy and found more than 150 relevant IEMs. This represents the fifth of a series of articles attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnosis according to system involvement.

Keywords: Ataxia; Cerebral palsy; Developmental delay; Developmental regression; Extrapyramidal movement disorder; Hypertonia; Inborn errors of metabolism; Motor developmental delay; Spasticity.

Figure 1.

Occurrence (%) of spasticity, extrapyramidal signs or ataxia in a combination with developmental delay or impairment or regression in 13 categories of IEMs. The percentages for neurological involvement were calculated using as the denominator the total number of IEMs in each category presenting with spasticity, extrapyramidal signs or ataxia. Heat scale ranges from red (0%) for diseases with no particular symptoms reported to violet (100%) for diseases with particular symptoms occurring with highly frequency. For interpretation of the references to color in this figure legend, the reader is referred to the web version of this article.