Abstracts

Linear scleroderma in coup de sabre (LSCS) presents as band-like sclerotic skin lesions, usually involving the frontoparietal area of the head. Progression of the disease may result in hemifacial syndrome (identical to idiopathic Parry Romberg syndrome -PRS-). LSCS and PRS may be accompanied focal epilepsy, which is often refractory to medical treatment. We report two patients, one with LSCs and other with idiopathic PRS who presented with a clinical and pathological picture identical to Rasmussen encephalitis (RE). Patient #1 started to have seizures at the age of 3, consisting of clonic twitching of the right arm and bilateral asymmetric tonic seizures. Seizures were pharmacorresistant. Progressive hemiparesis and cognitive decline were noticed by the age of 5, in addition to slight atrophy of the left side of the face, which progressed over the next years. MRIs showed marked and progressive atrophy of the left hemisphere. Presurgical evaluation at the age of 10 showed seizures arising from the left frontocentral region. She underwent a left functional hemispherectomy. Pathology showed massive neuronal cortical loss, reactive astrocitosis, perivascular lymphocytic infiltrates and microglial nodules, compatible with RE. She has had a 75% seizure reduction.
Patient #2 started to have seizures at the age of 23. Seizures consisted of paresthesias in the left thigh extending to the left arm and left hemiface, sometimes progressing into clonic movements of the left arm. At the age of 18 he had been diagnosed with LSCS (focal lesion over the right frontoparietal area), and left hemidystonia, succesfully treated with botulinum toxin. Seizures were initially controlled with carbamazepine. Seizure frequency suddenly increased at the age of 30 and he developed epilepsia partialis continua involving the left arm. Fluctuating hemiparesis was noticed, first after clusters of seizures and later in between seizures. MRIs showed progressive atrophy of the right hemisphere involving also the right basal ganglia. He underwent presurgical evaluation at the age of 33. Seizures were seen to arise from the right parietal region. He underwent invasive video-EEG monitoring with subdural electrodes over the right parietal region. He had a focal resection of the right parietal area. He has been seizure free for three months. Pathology showed focal perivascular lymphocytic infiltrates, microglial nodules, focal neuronal loss, and reactive astrocytosis, all suggestive of RE. LSCs and PRS seem to be part of the same spectrum of diseases characterized by progressive facial atrophy and neurological symptoms. Refractory focal epilepsy is common and surgical treament may be indicated. Pathological findings may be identical to chronic encephalitis (RE), suggesting a common autoimmune pathogenesis.