A Case Report of Parry-Romberg Syndrome Misdiagnosed as Multiple Sclerosis

Abstract

Background: Parry-Romberg syndrome (PRS) is a rare disease that causes hemiatrophy of the face. The pathophysiological mechanisms involved in its etiology are unknown, but several previous reports suggest the involvement of autoimmune factors. Herein we describe the case of a patient with PRS who was initially misdiagnosed as having multiple sclerosis (MS). The relevant literature is briefly reviewed, and some previous reports suggesting associations between PRS and autoimmunity are discussed. Case Presentation: A 34-year-old man presented with recurrent paroxysmal weakness of the right hand, a 3-years history of unilateral tinnitus, and headache for 6 months. MS was initially diagnosed but the patient was subsequently diagnosed as having PRS on the basis of clinical manifestations and radiological findings. Conclusions: PRS may be associated with autoimmune pathogenesis, but the present case does not support that theory.

Keywords: MRI; Parry-Romberg syndrome; autoimmune; mechanism; multiple sclerosis.

Figure 1

Brain computed tomography images. (A) Brain computed tomography (axial image) depicting under-development of the bone structure on the left side of the face compared with the right, including the nasal bone, nasal septum, sphenoid bones, and ethmoid bones. (B) A three-dimensional image of the brain depicting atrophy of the orbit, zygomatic bone, and teeth on the left side.

Figure 2

Magnetic resonance images. (A–C) T2-weighted fluid-attenuated inversion recovery images of the brain depicting diffuse hyperintensity signals in the left cerebrum. (D) Gadolinium enhanced T1-weighted image showing no enhancement of the lesion. (E) Hydrogen magnetic resonance spectroscopy image of a lesion in the left cerebrum, including a decreased choline peak (arrow). (F) Magnetic resonance image of the legs revealing muscular atrophy of the right leg, particularly the vastus medialis (thick white arrow), vastus intermedius (thick red arrow), sartorius (thin white arrow) and biceps femoris (thin red arrow).