Parry-Romberg-Syndrom and Rasmussen-encephalitis: A case report

Objective: Parry-Romberg-Syndrome is a rare disorder characterized by a slowly progressive unilateral atrophy of skin and soft tissues. About 15% of patients also have ipsilateral CNS abnormalities. Most of them suffer from symptomatic epilepsies. An autoimmune pathogenesis is suspected, but only few patients to date had brain biopsies.

Case report: We report the case of a 17-year-old adolescent. At the age of 7 years he first showed vitiligo-like depigmentations of the sinistral facial skin which proceeded to a progressive sharply delineated unilateral facial atrophy. Since 12 years old the patient developed a focal epilepsy which manifested initially with abdominal and gustatory auras, later with autonomic seizures, right-sided somatosensory auras and clonic seizures in increasing frequency, including several episodes of focal status epilepticus. Medical therapy with oxcarbazepine, phenytoin and valproate did not control the seizures. The EEG was characterized by a continuous theta-delta slowing of the left hemisphere associated with status-like seizure patterns maximum in the left fronto-central region. The MRI revealed atrophy and an enhanced T2-signal of the left hippocampus as well as the left insular cortex. Focal glucose hypometabolism on FDG-PET was seen in the same regions. For about six months, the epilepsy was satisfactorily controlled with levetiracetam. Coinciding with another increase in seizure frequency, the MRI showed additional abnormalities of the left cingulum and adjacent left frontal lobe in diffusion-weighted sequences. A brain biopsy was performed. Histopathological analysis of the specimen demonstrated a subacute inflammatory process with lymphocytic infiltration, microglial nodules, astrogliosis and mild neuronal loss. This finding is compatible with a diagnosis of “Rasmussen's encephalitis“.

Discussion:Both diseases are characterized by strictly unilateral manifestation. It is highly probable that similar autoimmune processes play a role in the pathogenesis of either condition.