Parry–Romberg syndrome: clinical, electrophysiological and neuroimaging correlations

Abstract

Parry–Romberg syndrome (PRS) is a rare disorder, described in the nineteenth century by Caleb Parry and Moritz Romberg, characterized by acquired and slowly progressive atrophy of one side of the face. The pathogenesis of PRS is still unclear. Immune-mediated processes are thought to be a basic factor in PRS etiology, but autonomic nervous system might also be impaired. A case of PRS in a 26-year-old woman with coexisting disturbances in the lower left limb is presented. The multimodal electrophysiological studies were done, including electroencephalography, visual, brain auditory, somatosensory and trigeminal somatosensory evoked potentials, blink reflex, standard neurographic and electromyographic examinations, quantitative sensory tests and autonomic tests. Neuroimaging studies consisted of brain MR, single voxel proton MR spectroscopy, diffusion tensor imaging with fiber tractography. Based on multimodal electrophysiological and neuroimaging studies, it was concluded that the impairment in PRS is multisystemic, i.e., motor, sensory, and autonomic. A cortical origin of the symptoms is possible.

Clinical case of Parry–Romberg syndrome

“…XX в. отечественными исследователями [27], но вследствие редкости синдрома количество описаний их ограничено; имеются отдельные сообщения [28,29]. Нарушения проведения по лицевому нерву описаны в части случаев, отклонения со стороны мышц лица (все с признаками, по мнению авторов, первично-мышечного поражения) -у всех пациентов [25,28], по сведениям других авторов, мышечные нарушения не описаны [30,31]. По данным тригеминальных и болевых вызванных потенциалов отклонений от нормы не описывается [32].…”

Parry-Romberg syndrome in a pediatric patient. A case report.

“…The syndrome progresses for several years and then it reaches a period of stability 4 . Its prevalence is estimated at 1/700,000 individuals 5 .…”

Parry-Romberg syndrome

“…Parry-Romberg syndrome (PRS), also named as progressive hemifacial atrophy is an acquired, sporadic neurocutaneous disorder that is mainly characterized by unilateral self-limited atrophy and loss of skin and subcutaneous tissue of the face. 1 - 5 It was first reported by Parry, and then elaborated as a syndrome by Romberg. 6 , 7 It is a slowly progressive disorder, occurring more in women, primarily affecting one side of the face, including skin, subcutaneous tissue, muscles, cartilage, and bones.…”

“… 2 - 4 , 8 Ocular involvement is common, and the most frequent manifestation is enophthalmos. 2 - 5 , 9 Its origin is unclear without any known cure. Several possible causes have been postulated (encephalitis, trauma, scleroderma, vasculitis, migraine, infections, genetic and hereditary factors, autoimmunity, and so forth) but a multifactorial pathogenesis may be the first etiology.…”

“…Several possible causes have been postulated (encephalitis, trauma, scleroderma, vasculitis, migraine, infections, genetic and hereditary factors, autoimmunity, and so forth) but a multifactorial pathogenesis may be the first etiology. 1 - 5 , 9 Possible neuroimaging findings of PRS in CT and MR imaging are; atrophy of skin and subcutaneous tissue of face, intracranial calcifications, cerebral atrophy, deep and subcortical white matter lesions, encephalomalacia, hydrocephalus, meningeal, and leptomeningeal enhancement, aneurysms, cortical thickening and dysgenesis, infarctions in the corpus callosum, and so forth. 1 , 5 , 10 We describe a rare case of PRS with classical features, associated with alopecia, hyperpigmentation around the left globe and eyebrows, and unilateral asymmetric loss of subcutaneous fat in left lower leg.…”