Objective: Revisit cerebral palsy (CP) cases referred to an adult movement disorder tertiary centre.

Background: CP is an umbrella term that defines a group of non-progressive neurological disorders caused by a brain injury or malformation that occurs while the child’s brain is under development. A number of slowly progressive neurodegenerative metabolic and genetic disorders are likely to be misdiagnosed as CP. The correct diagnosis, as early as possible, is important because: some may be treatable; family can be provided with more accurate information regarding the prognosis; and finally, genetic counselling may be offered, including, where appropriate, prenatal testing.

Method: From a database of 5236 patients, we selected 92 patients diagnosed with CP. We excluded preterm patients without MRI, with MRI findings specific of CP, without recent follow-up (≥ 5 years) or without computerized data. We identified 20 patients. The clinical features, brain image and alternative diagnosis were revisited.

Results: In 12 of the 20 patients, the diagnosis was reformulated. Five have been classified as dyskinetic type, 2 as spastic and 5 as mixed. Eleven patients have some mental retardation and 3 epilepsy. MRI was described as normal in 5, as non-characteristic of CP in 6 and as having typical findings of CP in one patient. Seven of 12 patients have positive family history (58.3%). The list of diseases identified were diverse: Aicardi-Goutières syndrome (4), SPG11 (1), DYT12 (1), Leigh syndrome (1), variant in GNAO1 gene (1), Sjögren-Larsson syndrome(1), Pelizaeus-Merzbacher disease (1), variant in SPR gene (1), chromosomopathy (1). Eight patients, 3 with history of perinatal anoxia, persist without an alternative diagnosis, despite the normality of the MRI. The majority are women (5/8) and the mean current age is 34.5 years. Seven are classified as having the dyskinetic type of CP. Three have associated mental retardation and one has epilepsy.

Conclusion: We highlight the importance of identifying CP masqueraders, having in mind its therapeutic, prognostic and genetic counselling implications. We identify as possible clues to proceed investigation the existence of pure dyskinetic forms, positive family history and the non-existence of MRI signs of perinatal distress or prematurity. We consider the presence of associated features as mental retardation or epilepsy a confounding factor.

References: [1] Takezawa Y et al. Genomic analysis identifies masqueraders of full-term cerebral palsy. Ann Clin Transl Neurol. 2018 Mar 26;5(5):538-551. [2] Lee RW et al. A Diagnostic Approach for Cerebral Palsy in the Genomic Era. Neuromolecular Med. 2014 Dec;16(4):821-44.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/cerebral-palsy-masqueraders-in-an-adult-movement-disorder-tertiary-centre-when-to-investigate-an-alternative-diagnosis/