Adult-onset Rasmussen encephalitis and Parry Romberg syndrome overlap

Abstract

Parry Romberg syndrome (PRS), also called progressive hemifacial atrophy (PHF), is a rare, mostly sporadic, syndrome of unknown etiology characterized by a progressive self-limited but irreversible atrophy on one side of the face and sometimes the ipsilateral trunk and limbs [1]. It usually involves soft tissues such as the skin and subcutaneous tissue but may involve muscles and bony structures. Typically there is a severe line on the forehead limiting the hemifacial atrophy which is defined by a lesion “en coup de sabre.” Epidemiological features are based on report cases and case series: its medium age of onset is of 10–13 years and presumably affects more women than man [1–3]. It usually reaches stability within 10 to 20 years of evolution but with irreversible atrophy [4]. Neurological manifestations are frequently affecting up to 15% of PRS population according to some authors [3]. These neurological manifestations mainly include migraine, facial pain, focal neurological motor, or sensitive deficits depending on the location of brain lesions, cranial nerve palsies, and, less frequently, cognitive impairment [2, 3, 5]. Rasmussen encephalitis (RE) is a rare autoimmune disease characterized by a chronic inflammation of the brain leading to a progressive atrophy in one hemisphere [6]. It is considered an epileptic encephalopathy since it usually causes an intractable epilepsy, a progressive cognitive impairment and a progressive hemiplegia consequent to the loss of grey matter [7].We report an adult-onset PRS with unusual neurological manifestations casting doubt about the possible association with RE.