Late-onset Rasmussen encephalitis in Parry-Romberg syndrome: a case report

Abstract

Parry-Romberg syndrome (PRS) is a rare condition characterized by slow and progressive hemifacial atrophy [1]. PRS can present with ocular, cardiac, oral, and neurological manifestations, including migraine and seizures. Neuroradiological abnormalities involving the homolateral hemisphere to the hemifacial atrophy have been described. T2-weighted and T2 fluid-attenuated inversion recovery (T2-FLAIR) sequences can show both white and grey matter hyperintensity [1]. The possible association between PRS and Rasmussen encephalitis (RE) has been recently reported. Rasmussen encephalitis is a rare but severe immunemediated brain disorder leading to unilateral hemispheric atrophy, associated progressive neurological dysfunction, and intractable seizures. RE usually occurs during childhood, even though late-onset cases (lo-RE) during adulthood have been reported [2]. The diagnosis of lo-RE in a patient with PRS is challenging due to the possible overlap of neurological symptoms (e.g., pharmacoresistant epilepsy) and MRI abnormalities. In the present report, we describe a case of lo-RE associated with PRS. A 33-year-old female patient, affected by PRS since the age of 15, was conducted to the emergency room (ER) due to the sudden onset of a focal motor seizure, associated with repetitive rhythmic movements involving the right facial muscles and evolved to a focal-to-bilateral tonic–clonic seizure. Her medical history included migraine with aura and depression. From the age of 15, she presented slowly progressive atrophy of the left face’s soft tissues, which seemed to remain unchanged after the age of 25. Diagnosis of PRS was made according to clinical, radiological, and histological criteria. At admission to the ER, the neurological examination showed frequent, continuous, stereotyped, arrhythmic, and repetitive muscle jerks involving the tongue, associated with dystonic left-side deviation of the mandibula (Supp. Video). A concomitant electroencephalogram (EEG) recording showed frequent bursts of medium amplitude 5 Hz theta sequences, with superimposed diphasic sharp-waves, over the left fronto-temporal derivations (Fig. 1). A diagnosis of epilepsia partialis continua (EPC) was made. The patient was treated with two intravenous (i.v.) boluses of Lorazepam 4 mg and Levetiracetam 1000 mg, with electroclinic resolution of the seizure. However, the focal motor seizures re-occurred in the next days. An anti-seizure therapy with Levetiracetam 3000 mg/die was started and subsequently enriched with Carbamazepine 800 mg/die and Perampanel 4 mg/die due to lack of seizures control. The patient underwent a brain MRI, which showed white matter hyperintense signal in T2-FLAIR sequence in both hemispheres (left > right) and cortical atrophy in the left hemisphere (Fig. 2A) which were more evident when compared to a previous brain MRI performed 9 months before (Fig. 2B). Diffusion-weighted imaging (DWI) excluded an acute ischemia. Cerebrospinal fluid (CSF) analysis showed lymphocytic leukocytosis (6/mm3), with increased level of IgG ratio (IgG liquor/IgG serum: 5.94) and Link index (0.89). CSF polymerase chain reaction (PCR) for neurotropic viruses (Herpes simplex virus 1–2, Herpes Zoster 3, Epstein-Barr virus, Cytomegalovirus) was negative. Extensive auto-antibodies panel, performed both on serum and CFS, as well as oligoclonal band evaluation, were negative (Supp. Table 1). Due to the extended leukoencephalopathy, a genetic testing for leukodystrophy and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) was performed and resulted negative. * Fedele Dono [email protected]