Abstracts

Rationale: We present four patients with Linear Scleroderma or Parry-Romberg Syndrome. These rare syndromes share clinical features and the craniofacial forms can be associated with epilepsy, migraine and unilateral white matter lesions. Their etiology is still not clear. In this study we tested the hypothesis that the localized, strictly unilateral structural abnormalities may be caused by a somatic mutation resulting in somatic mozaicism.Methods: Clinical and radiological characteristics of the four patients are presented. In one patient we performed array comparative genome hybridization (aCGH) on DNA extracted from lymphocytes and cultured fibroblasts obtained by skin biopsy of affected skin. Copy number variants (CNVs) were compared between the two tissues in order to search for a CNV present in fibroblasts and absent in the blood. Results: Two patients had linear scleroderma. The first patient had imaging consistent with a right-sided cerebral vasculitis. The other patient had the diagnosis of Rasmussen encephalitis. Two patients had Parry-Romberg Syndrome. One patient had aspecific gliosis of the right frontal brain. The last patient had Rasmussen encephalitis, with intractable epilepsia partialis continua. Results of the CNV analysis in the first patient will be presented. Conclusions: Linear Scleroderma and Parry-Romberg can be associated with epilepsy, migraine and unilateral white matter lesions. There can be overlap with Rasmussen encephalitis. The etiology and best treatment of these disorders is not clear. There are speculations about viral, autoimmune or vascular origin but genetic somatic mozaicism is also an interesting hypothesis needed to be explored further.