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Should children with cerebral palsy and normal imaging undergo testing for inherited metabolic disorders ?

LEONARD JM; COZENS AL; REID SM; FAHEY MC; DITCHFIELD MR; REDDIHOUGH D
DEV MED CHILD NEUROL , 2011, vol. 53, n° 3, p. 226-232
Doc n°: 150770
Localisation : Documentation IRR

D.O.I. : http://dx.doi.org/DOI:10.1111/j.1469-8749.2010.03810.x
Descripteurs : AJ23 - PARALYSIE CEREBRALE

For the 9% to 16% of children with cerebral palsy (CP) who have normal brain
imaging, further testing for metabolic and/or genetic conditions has been
recommended. This study aimed to identify a cohort of children with CP with
normal magnetic resonance imaging (MRI), clinically review and describe the
cases, and assess the value of testing for inherited metabolic disorders in these
children. METHOD: Children with congenital CP born from 1999 to 2005 were
selected from a population register. Normal MRI reports were identified and the
scans reassessed. Children whose scans were performed before 18 months were
excluded, as were children with spastic CP (Gross Motor Function Classification
System [GMFCS] level I). The remainder were reviewed clinically and offered
investigations. RESULTS: Of 730 children identified, 515 had available imaging
and 54 were confirmed as normal. Cases with non-spastic CP and those with milder
clinical severity were more likely to have normal imaging. Twenty-three children
(17 males, six females; mean age 6 y 11 mo, SD 1 y 10 mo, range 3 y 0 mo to 10 y
0 mo) were reviewed clinically and offered investigations. Twelve children had
spasticity (11 with diplegia, one quadriplegia), three had dyskinesia, five
ataxia, and three hypotonia. Two children functioned in GMFCS level I, 11 in
level II, seven in level III and three in level IV. Four children with spasticity
had unusual features. No alternative diagnoses were made. INTERPRETATION:
Although important to consider in individual cases, comprehensive metabolic
testing failed to clarify the aetiology of CP further in this large cohort of
children with normal MRIs, even those with atypical features.
CI - (c) The Authors. Journal compilation (c) Mac Keith Press 2011.

Langue : ANGLAIS

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