Genetic mimics of cerebral palsy

Abstract

The term “cerebral palsy mimic” is used to describe a number of neurogenetic disorders that may present with motor symptoms in early childhood, resulting in a misdiagnosis of cerebral palsy. Cerebral palsy describes a heterogeneous group of neurodevelopmental disorders characterized by onset in infancy or early childhood of motor symptoms (including hypotonia, spasticity, dystonia, and chorea), often accompanied by developmental delay. The primary etiology of a cerebral palsy syndrome should always be identified if possible. This is particularly important in the case of genetic or metabolic disorders that have specific disease‐modifying treatment. In this article, we discuss clinical features that should alert the clinician to the possibility of a cerebral palsy mimic, provide a practical framework for selecting and interpreting neuroimaging, biochemical, and genetic investigations, and highlight selected conditions that may present with predominant spasticity, dystonia/chorea, and ataxia. Making a precise diagnosis of a genetic disorder has important implications for treatment, and for advising the family regarding prognosis and genetic counseling. © 2019 International Parkinson and Movement Disorder Society

<p>Cerebral Palsy: Current Opinions on Definition, Epidemiology, Risk Factors, Classification and Treatment Options</p>

“…Such disorders are often characterized as CP mimics. [9][10][11][12] There are reports in the literature of inborn errors of metabolism that present as CP mimics; a large proportion of these diseases are treatable such that neurological damage can either be reversed or prevented. 9 The primary aetiology of a cerebral palsy syndrome should always be identified if possible.…”

“…11 Making a precise diagnosis of a metabolic or genetic disorder has important implications for the possibility of treatment, accurate prognosis and genetic counselling. 11,12 The aim of the present literature review was to discuss current views on definitions, risk factors, diagnostics and treatment of CP as well as comorbid problems, eg, drug-resistant epilepsy.…”

Review of Hereditary and Acquired Rare Choreas

“…We will not discuss some of the acquired choreas that are relatively common such as those induced by medications (levodopainduced or tardive chorea), vascu lar choreas, Sydenham's chorea, chorea secondary to non ketotic hyperglycemia, neoplasms, causes of brain hypoxia, and cerebral palsy. Since a variety of genetic and metabolic conditions may mimic cerebral palsy, we recommend that the diagnosis of cerebral palsy be reconsidered when there is absence of risk factors in the birth/neonatal history or neuroimaging findings consistent with brain injury or con genital abnormalities [76].…”

Complex dystonias: an update on diagnosis and care

“…Many children also have other symptoms and signs in addition to dystonia, particularly spasticity, cognitive impairment, or epilepsy, thus qualifying to be grouped into the category of complex dystonias. In these cases, great caution is necessary not to overlook potentially treatable hereditary diseases (MacLennan et al 2015), e.g., l-Dopa-responsive dystonia that can present as complex dystonia and be misinterpreted as CP (Giri et al 2019;Pearson et al 2019).…”

“…MR-imaging typically shows leukoencephalopathy or lesions in globus pallidus or thalamus, but may also be unremarkable (Benini et al 2013). Importantly, whenever there is a discrepancy between clinical phenomenology and brain imaging, e.g., a severe or complex syndrome with generalized dystonia, spasticity, and cognitive impairment associated with normal brain imaging or only subtle changes, causes other than acquired lesions have to be considered, particularly genetically determined autosomal recessive or de novo diseases (Zouvelou et al 2019;Pearson et al 2019).…”