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Table of Contents    
CASE REPORT
Year : 2019  |  Volume : 67  |  Issue : 4  |  Page : 1090-1092

Parry Romberg Syndrome: A Unique Clinico-radiological Entity


1 Department of Radiodiagnosis and Imaging, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India
2 Department of Neurology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India

Date of Web Publication10-Sep-2019

Correspondence Address:
Prof. Chirag K Ahuja
Department of Radiodiagnosis and Imaging, Post Graduate Institute of Medical Education and Research, Chandigarh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.266253

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 » Abstract 


Parry Romberg syndrome (PRS) is an unusual neurological entity characterized by progressive hemifacial atrophy. We describe the case of a 17-year-old male who presented with recurrent seizures and facial asymmetry of 1 year duration. Computed tomography (CT) of the head showed right-sided hemifacial atrophy involving the subcutaneous fat, muscles, and bones alongwith subcortical white matter hypodensity, having parenchymal foci of calcification. The etiology of PRS is debated from being secondary to abnormalities in fat metabolism to autoimmune and inflammatory causes. The treatment is symptomatic and is targeted at relief of seizures and migraine. Steroids and other immunomodulators have proven successful in some cases. Surgical correction may be done once the disease stabilizes.


Keywords: Calcification, hemifacial atrophy, Parry Romberg, seizure
Key Message: PRS is a rare self limiting disease of varied etiology, usually seen in children with progressive hemifacial atrophy and frequently affecting the CNS. Approximately a third of patients present with epilepsy and migraine often requiring symptomatic treatment.


How to cite this article:
Ahuja CK, Prabhakar A, Gupta V, Modi M, Khandelwal N. Parry Romberg Syndrome: A Unique Clinico-radiological Entity. Neurol India 2019;67:1090-2

How to cite this URL:
Ahuja CK, Prabhakar A, Gupta V, Modi M, Khandelwal N. Parry Romberg Syndrome: A Unique Clinico-radiological Entity. Neurol India [serial online] 2019 [cited 2019 Sep 19];67:1090-2. Available from: http://www.neurologyindia.com/text.asp?2019/67/4/1090/266253




Parry Romberg syndrome (PRS) is an unusual neurological entity characterized by progressive hemifacial atrophy.[1] The condition is poorly understood. It was described by Caleb Parry in 1825 and Mortiz Romberg in 1845.[2] The prevalence is approximately 1 in 700000 of the population.[2] Here, we describe a case of PRS who presented with the complaint of seizures.


 » Case History Top


A 17-year-old male presented to our hospital with complaints of multiple episodes of left focal seizures for the last 6 months. There was no precipitating event. He had noticed facial asymmetry with progressive atrophy of the right-side of the face, which had begun 6 months back. On examination, he had facial disfigurement and atrophy of the right-side of the face including the forehead with deviation of the nose to the right side. Mild hyperpigmentation was also noted on the affected side. There was clear demarcation between normal and abnormal area in the forehead leading to the presence of a prominent line in the middle of forehead [Figure 1]a. He had normal mastication. No abnormal neurological finding was noted. There was no history of trauma, previous medication, and major illness. Non-contrast computed tomography (CT) revealed multiple foci of calcification in the right cerebral hemisphere with surrounding white matter hypodensities predominantly in the right frontal subcortical region [Figure 1]b. CT also showed atrophy of subcutaneous fat and facial muscles on the right side [Figure 1]c. Three-dimensional reconstruction of the face showed atrophy of the facial bones on the including maxilla, mandible, and zygomatic arch. Bony calvarium was normal [Figure 2]a and [Figure 2]b.
Figure 1: Frontal photograph (a) showing right hemifacial atrophy with a linear forehead depression in the midline demarcating the normal from the abnormal zone. Deviation of the nose to the right-side is also noted. Axial brain window (b) and bone window (c) computed tomographyscan demonstrating right cerebral white matter signal changes with subcortical calcific foci and right-sided facial soft tissue atrophy

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Figure 2: Three-dimensional volume rendered computed tomography scan (a) image depicting the bony atrophy involving the right sided facial skeleton, which is also appreciated on coronal bone window image (b). Also noted is right-sided cerebral calcification

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 » Discussion Top


PRS is an uncommon condition. Its incidence is approximately 0.3 to 2.5 cases per 100,000 population per year.[3] The disease is more common in women as compared to men.[4] The condition usually starts in the first decade, however, patients with later onset have been described.[3] Few familial cases of PRS have also been described.[5] The disease is usually self-limited and stabilizes after 2–20 years.[3]

The pathophysiology of PRS is not well-defined. However, some authors have proposed that a disturbance in the fat metabolism due to an underlying neurologic dysfunction.[2] Inflammatory and autoimmune etiologies have also been considered. Other possible factors include trauma, heredity, viral infections, and endocrine disturbances.

Clinically, there is atrophy of the fat with dry skin, dark pigmentation, or vitiligo. A demarcation line called “en coup de sabre” may also be seen.[2] It involves the dermatomes of the branches of the trigeminal nerve.[3] Atrophy of the underlying soft tissue bones and muscles is also seen. The disease can also involve the eye, pupil, and hair.[6] It is restricted to one half of the face. It may involve the arm, trunk, and leg also and might be bilateral.[7]

Central nervous system (CNS) is the most commonly affected system. The most common neurological complaint in patients suffering from PRS is seizures. These may be focal or generalized in nature. Laterality of the cutaneous abnormalities generally correlates with the hemisphere involved. Some cases of discordance of the side have been reported.[3] Up to 33% of these seizures may be refractory to treatment.[8] Pain and headache are also common symptoms and represent 45 to 35% of the neurological symptoms.[3] Facial pain and trigeminal neuralgia have also been reported.[9]

Various types of cerebral vascular anomalies have also been reported in association with PRS. Vasculitis, vascular malformations, cerebral aneurysms, spontaneous carotid-jugular fistula, carotid dissection, brain cavernomas, and hypoplastic arteries associated with homolateral phthisis bulbi are some of the vascular anomalies that may occur. All these malformations are usually located on the affected side. The possible pathologies include failure of neural crest migration or localized vasculitis that may lead to fragility of the arterial wall.[3],[10]

Imaging studies of the brain, such as CT and magnetic resonance (MR) imaging, reveal bilateral or ipsilateral involvement with ipsilateral cutaneous involvement.[3] Bony deformity and thinning of the outer diploe in the region underlying the skin lesion may be seen on CT scan. Calcification is also seen, involving the deep gray matter, dentate nuclei, and thalami.[3] On MR imaging, cerebral atrophy that may be ipsilateral to the side of the skin involvement or diffuse involving the cerebral and cerebellar hemispheres is seen. Asymmetry of the ipsilateral lateral ventricle, focal cortical atrophy, cortical thickening, with blurring of the gray white matter junction are also seen. Encephalomalacia and porencephalic cysts have also been described. Areas showing T2 hyperintensity may be seen in the frontal lobe affecting the cortex and the subcortical white matter, which appears as hypodensity on CT scan, as was seen in our patient. These may also be seen in the corpus callosum, brainstem, optic nerves, and deep gray matter.[4],[8],[11] In post-contrast imaging, enhancement has been reported in 17.4% of the patients showing T2 hyperintensity. This is usually associated with intrathecal antibody production and may be seen despite immunosuppressive treatments.[7],[12]

There are no clear cut guidelines for treatment. Symptomatic treatment for seizures and migraine is performed. Corticosteroids and methotrexate are the most commonly used drugs. Other immunosuppressant drugs such as cyclophosphamide, D-penicillamine, rituximab, cyclosporine, and hydroxychloroquinemay be used.[3] Reconstructive surgery may be performed once the disease has stabilized.[2]

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
 » References Top

1.
Parry–Romberg syndrome: Clinical, electrophysiological and neuroimaging correlations-Springer [Internet]. [cited 2015 Oct 22]. Available from: http://link.springer.com/article/10.1007/s10072-011-0756-4/fulltext.html  Back to cited text no. 1
    
2.
Sharma M, Bharatha A, Antonyshyn OM, Aviv RI, Symons SP. Case 178: Parry-Romberg Syndrome. Radiology 2012;262:721-5.  Back to cited text no. 2
    
3.
Vix J, Mathis S, Lacoste M, Guillevin R, Neau JP. Neurological Manifestations in Parry–Romberg Syndrome: 2 Case Reports. Medicine 2015;94:e1147.  Back to cited text no. 3
    
4.
Doolittle DA, Lehman VT, Schwartz KM, Wong-Kisiel LC, Lehman JS, Tollefson MM. CNS imaging findings associated with Parry-Romberg syndrome and en coup de sabre: Correlation to dermatologic and neurologic abnormalities. Neuroradiology 2015;57:21-34.  Back to cited text no. 4
    
5.
Lewkonia RM, Lowry RB, Opitz JM. Progressive hemifacial atrophy (Parry-Romberg syndrome) report with review of genetics and nosology. Am J Med Genet 1983;14:385-90.  Back to cited text no. 5
    
6.
El-Kehdy J, Abbas O, Rubeiz N. A review of Parry-Romberg syndrome. J Am AcadDermatol. 2012;67:769-84.  Back to cited text no. 6
    
7.
Stone J. Parry–Romberg syndrome A global survey of 205 patients using the Internet. Neurology 2003;61:674-6.  Back to cited text no. 7
    
8.
Kister I, Inglese M, Laxer RM, Herbert J. Neurologic manifestations of localized scleroderma: A case report and literature review. Neurology 2008;71:1538-45.  Back to cited text no. 8
    
9.
Kumar AA, Kumar RA, Shantha GPS, Aloogopinathan G. Progressive hemi facial atrophy-Parry Romberg syndrome presenting as severe facial pain in a young man: A case report. Cases J 2009;2:6776.  Back to cited text no. 9
    
10.
Grosso S, Fioravanti A, Biasi G, Conversano E, Marcolongo R, Morgese G, et al. Linear scleroderma associated with progressive brain atrophy. Brain Dev 2003;25:57-61.  Back to cited text no. 10
    
11.
Appenzeller S, Montenegro MA, Dertkigil SSJ, Sampaio-Barros PD, Marques-Neto JF, Samara AM, et al. Neuroimaging findings in scleroderma en coup de sabre. Neurology 2004;62:1585-9.  Back to cited text no. 11
    
12.
Cory RC, Clayman DA, Faillace WJ, McKee SW, Gama CH. Clinical and radiologic findings in progressive facial hemiatrophy (Parry-Romberg syndrome). Am J Neuroradiol 1997;18:751-7.  Back to cited text no. 12
    


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