Abstract
BackgroundThe aim of this study was to: (i) describe the abnormalities seen on brain imaging in a group of children with en coup de sabre (EDCS) with/without Parry-Romberg syndrome (PRS); and (ii) identify clinical predictors of brain imaging abnormalities.MethodsThis was a single centre (Great Ormond Street Hospital, London) retrospective case series of patients with ECDS/PRS seen from 2000 to 2018. We identified patients with cutaneous manifestations consistent with the clinical descriptions of ECDS/PRS. Presenting clinical, laboratory, and radiological brain findings are described. Results are expressed as medians and ranges or frequencies and percentages. Fisher’s exact test was used to identify clinical associations with magnetic resonance imaging (MRI) abnormalities.ResultsFourteen patients were studied: 6 males and 8 females; median age 14 years (range 3–20). We observed neuroimaging abnormalities in 2/6 ECDS and 5/8 ECDS/PRS patients. White matter signal abnormality, dystrophic calcification, leptomeningeal enhancement, and sulcal crowding were the typical findings on brain imaging. A total of 50% of patients had no MRI abnormality despite some of these patients having neurological symptoms. The presence of seizures was significantly associated with ipsilateral enhanced white matter signalling on MRI (p < 0.05).ConclusionsIn summary, we observed several distinct radiographic patterns associated with ECDS/PRS. Seizure disorder was strongly associated with the presence of ipsilateral enhanced white matter signalling. Improved neuroimaging techniques that combine morphological with functional imaging may improve the detection rate of brain involvement in children with ECDS/PRS in the future.
Highlights
The aim of this study was to: (i) describe the abnormalities seen on brain imaging in a group of children with en coup de sabre (EDCS) with/without Parry-Romberg syndrome (PRS); and (ii) identify clinical predictors of brain imaging abnormalities
The recently published Single Hub Access Point for Paediatric Rheumatology (SHARE) consensus-based recommendations for the management of juvenile localised scleroderma recognised this lack of correlation between the severity of cutaneous disease and central nervous system (CNS) involvement and recommended that all patients with juvenile linear scleroderma such as ECDS and PRS involving the face and head, with or without signs of neurological involvement, should have magnetic resonance imaging (MRI) of the head at the time of diagnosis [6]
We have shown that the development of seizures is significantly associated with ipsilateral enhanced white matter signalling on MRI brain (p < 0.05)
Summary
The aim of this study was to: (i) describe the abnormalities seen on brain imaging in a group of children with en coup de sabre (EDCS) with/without Parry-Romberg syndrome (PRS); and (ii) identify clinical predictors of brain imaging abnormalities. The recently published Single Hub Access Point for Paediatric Rheumatology (SHARE) consensus-based recommendations for the management of juvenile localised scleroderma recognised this lack of correlation between the severity of cutaneous disease and central nervous system (CNS) involvement and recommended that all patients with juvenile linear scleroderma such as ECDS and PRS involving the face and head, with or without signs of neurological involvement, should have magnetic resonance imaging (MRI) of the head at the time of diagnosis [6] These recommendations did not, provide any guidance on the specific imaging findings associated with neurological symptoms in ECDS/PRS due to a lack of relevant data: most imaging studies to date have been reported in adults, with only single case reports or small cases series in childhood disease [7–9]. The aim of this study was to: (i) describe the CNS imaging abnormalities seen in a group of children with ECDS with/without PRS; and (ii) identify clinical predictors for the development of these MRI abnormalities
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