Children with cerebral palsy and normal brain MRI imaging. Dinah Reddihough, Jane Leonard, Alison Cozens, Sue Reid, Michael Fahey

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1 Children with cerebral palsy and normal brain MRI imaging Dinah Reddihough, Jane Leonard, Alison Cozens, Sue Reid, Michael Fahey

2 Cerebral palsy - a clinical description varying types of movement disorder different severities various patterns on MRI brain scans Background

3 Background American Academy of Neurology recommends all children with CP should have MRI at 2 years To establish a likely aetiology, for example, brain malformation To provide information about the timing of the damaging event

4 Background Patterns of injury periventricular white matter injuries brain malformations grey matter injuries (subcortical / cortical and basal ganglia patterns) focal vascular lesions miscellaneous Some children (approximately 10 15%) have normal MRI findings

5 Aims Estimate the proportion of children with CP and normal imaging in a 7 year population based cohort Describe their clinical features and review their investigations Undertake further testing for metabolic, genetic or other alternative diagnoses where indicated

6 Methods All children born between when MRI more available All normal scans were reassessed by an experienced radiologist

7 Methods Children with scans performed before 18 months were excluded Those with mild spastic CP (GMFCS 1) were excluded All children remaining underwent a clinical review Investigations were then planned by the team which included a metabolic physician, a paediatric neurologist and a developmental paediatrician

8 Methods Clinical disorders of intermediary metabolism Organic acidemias, urea cycle disorders Disorders of energy production Mitochondrial respiratory chain disorders Progressive neurodegenerative disorders Leukodystophies, disorders of neurotransmitter synthesis

9 Methods Plasma CK, prolactin, TSH, free T4, uric acid, Vit B12, Vit E, cholesterol, α-fetoprotein, triglycerides, albumin, homocysteine, transferrin, white cell enzymes, VLCFA, biotinidase, acylcarnitine, karyotype, mitochondrial mutations (DNA) Urine Amino acids, organic acids, 3OH glutarate, guanidinoacetic acid, purines, pyrimidines Paired samples Plasma and cerebrospinal fluid glucose, lactate, pyruvate, amino acids, folate, cerebrospinal fluid neurotransmitters

10 Results 730 children 515 had an MRI available for review (71%) normal imaging confirmed in 54 children (10.5%) with imaging available normal MRI more likely in two groups of children those with non-spastic motor type those with mild spasticity

11 Results 54 children with normal MRI 39 had MRI at > 18 months 16 of these children had spastic CP GMFCS level 1 23 children were reviewed and investigated further

12 Results 23 children reviewed clinically Mean age 6 yrs 10 mo, 17 males 14 had spasticity 3 dyskinesia 3 ataxia 3 hypotonia

13 Results One child had a known genetic disorder (thyroid transcription factor deficiency) One child had a raised blood neopterin level (a non-specific inflammatory marker) Two children had elevated blood prolactins, suggesting dopamine depletion, but had normal neurotransmitter levels. They responded to trial of L-DopaL

14 Discussion Children with cerebral palsy and normal MRI are clinically diverse Children with non spastic cerebral palsy more likely to have normal MRI These children should be considered carefully for the cause of their cerebral palsy Slowly progressive forms of neurodegenerative disease may have normal MRI

15 Discussion Limitations Only 71% of children had imaging available for review Small numbers in final cohort Predominance of term children in our population. Different inclusion and exclusion criteria in the various population cohorts Interpretation of MRI scans remains subjective with no uniform classification system (wide variations in what is deemed to be normal in terms of ventricle size, timing of myelination)

16 Discussion Pick up of positive tests was low Nevertheless it is important not to miss certain diagnoses where there may be treatment and genetic implications Larger cohorts are needed to determine algorithms as to which investigations are useful in children with cerebral palsy and normal MRI

17 Thank you

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