Analysis of UMN Abnormalities in Parry-Romberg Syndrome
Parry-Romberg (PR) syndrome is a clinically heterogenous syndrome characterised by hemifacial atrophy, and variable associated intracerebral abnormalities producing contralateral neurological manifestations, including hemiparesis, hemianopia and focal seizures. The syndrome usually begins in adolescence, and is often associated with linear scleroderma, with a typical facial appearance of ‘coup de sabre’. The aetiology of PR syndrome is unknown, but there are a few reported associations with scleroderma.
PR syndrome allows a unique interrogation of upper motor neuron (UMN) abnormalities, because of the unilateral involvement of the cerebral hemisphere and corticospinal tract.
We describe a subject with PR syndrome who had assessment of the UMN with diffusion tensor imaging (DTI) and transcranial magnetic stimulation (TMS) to identify abnormalities and in the motor cortex and in the corticospinal tract. While previous authors have used DTI and TMS in isolation to identify motor cortex and corticospinal tract abnormalities in PR syndrome, this is the first description of both of these methods in the assessment UMN pathology in a patient with PR syndrome, compared with normal subjects and subjects with UMN abnormalities as a part of Amyotrophic Lateral Sclerosis (ALS).