LAUSR

En coup de sabre (ECDS) is a form of linear scleroderma characterised by skin induration followed by unilateral pigmentation dysregulation over the frontoparietal region with associated scarring. Parry Romberg syndrome (PRS) is a sporadic neurocutaneous disease characterised by slow and progressive hemifacial atrophy of the skin, muscles, and bony structures. Both conditions are associated with neurological symptoms such as headache and seizures. A wide variety of magnetic resonance findings associated with these conditions have been described. However, to date, attempts to identify predictors of MRI abnormalities have remained unsuccessful. The aim of this study was to: (i) describe the abnormalities seen on MRI in a large group of children with PRS/ECDS; and (ii) identify demographic, clinical, and laboratory predictors of MRI abnormalities. This was a single centre (Great Ormond Street Hospital, London) retrospective case series of patients with PRS/ECDS seen from 2001-2018. We identified patients with cutaneous symptoms consistent with the clinical descriptions of PRS/ECDS: lateral forehead scleroderma with/without hemifacial atrophy. Presenting clinical, immunological, and MR brain findings are reported. Results are expressed as medians and ranges or frequencies and percentages. Fisher’s exact test was used to identify clinical associations with MRI abnormalities. A total of 17 patients were identified: 7 males and 10 females; median age 13 years (range 3 – 23). Non-cutaneous manifestations included seizures, headaches, stroke, cranial nerve dysfunction, anxiety, hypertension, hypermobility, Raynaud’s, myositis, and gastro-oesophageal reflux. The positive MR findings included ipsilateral enhanced white matter signalling, mineral deposition, lateral ventricle dilation, leptomeningeal enhancement, cavernomas, generalised atrophy, and loss of cortical gyration. The presence of seizures and the PRS phenotype were significantly associated with an abnormal MRI (p < 0.05) and showed trends towards significance with ipsilateral enhanced white matter signalling (p = 0.09). The development of seizures and the PRS phenotype predict abnormalities in MR brain imaging in childhood PRS/ECDS. Baseline and regular monitoring MR brain scans should be carried out in all patients with PRS/ECDS to identify abnormalities associated with the development of seizures. The authors declare no conflicts of interest.