| Abstract|| |
Progressive facial hemiatrophy or Parry–Romberg syndrome is a rare disorder of unknown etiology which is characterized by atrophy of the one side of the face and various neurological complications. Clinical overlap is sometimes seen with linear scleroderma or en coup de sabre. We present such a case that manifested clinically with partial epilepsy and novel psychiatric complaints of agoraphobia.
Keywords: Agoraphobia, en coup de sabre, facial asymmetry, Parry–Romberg syndrome, progressive facial hemiatrophy
|How to cite this article:|
Chauhan NS, Singh S. A queer case of Parry–Romberg syndrome with coexisting psychiatric ailment. Indian J Psychiatry 2019;61:97-9
| Introduction|| |
Parry–Romberg syndrome (PRS) is a rare, poorly understood neurocutaneous disorder characterized by hemifacial atrophy affecting the skin, fat, muscle, and sometimes, the bone. The common neurological features of PRS are seizures, facial pain, or masticatory spasm. Neuroimaging findings usually described are intracranial calcifications and white matter lesions. We present a rare case report of PRS that was diagnosed on CT scan. The patient had manifested clinically with partial seizures and unusual psychiatric complaints of agoraphobia.
| Case Report|| |
A 24-year-old male patient was referred to our hospital from a rural peripheral health center with complaints of abnormal behavior and seizures. He was born of a nonconsanguineous marriage and was the only brother of five sisters, all of whom were healthy. No history of any developmental delay or mental retardation was present. On examination in psychiatric clinic, he confided to having severe anxiety related to being alone outside his home and in crowded places. He was also fearful of traveling by road and particularly so in buses. Exposures to these situations lead to severe anxiety or panic attacks. His daily lifestyle was severely restricted because of avoidance of these situations. He also had partial seizures for the past 5 years for which he was under treatment. Facial asymmetry was noted on the left side of face involving the maxillary and periorbital region. A line was also noticed running obliquely in the left frontoparietal region. The cause of his facial asymmetry was not immediately apparent. The electroencephalogram and routine laboratory tests were normal. A contrast computed tomography (CT) of the head was requested for ruling out any organic cause for seizure activity. CT head showed presence of a lipoma of size 6.7 mm × 4.5 mm × 5.5 mm in the right quadrigeminal plate cistern with CT attenuation values ranging from −50 HU to −60 HU [Figure 1]. No other intracranial abnormality such as calcification or white matter hypodensity was noted. Careful inspection of CT images revealed atrophy of the subcutaneous soft tissues and skin in the left frontal region [Figure 2]. The volume rendering showed it to be extending in a diagonal fashion along the left frontoparietal location [Figure 3]. The left supraorbital ridge and frontal bone were also found to be depressed [Figure 4]. Inquiry into history from parents revealed that the patient had undergone spontaneous regression of the left-sided facial soft tissues at the age of 5 years. The process had arrested by itself after 2 years and was stable since then. The seizure activity and the psychiatry complaints had developed later at the age of 19 years. Based on the presence of facial hemiatrophy, a diagonal line on scalp of forehead, the CT findings and typical history, diagnosis of PRS was made having possible overlap with linear scleroderma or en coup de sabre. The psychiatric ailment was diagnosed as agoraphobia with panic attacks. The patient was scheduled for magnetic resonance imaging (MRI) brain; however, the study had to be aborted as he developed panic attack during the scan.
|Figure 1: Axial postcontrast computed tomography image showing the right quadrigeminal plate lipoma (arrows)|
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|Figure 2: Left parasagittal computed tomography image depicting the atrophy of subcutaneous tissues in the left frontoparietal location (white arrowheads)|
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|Figure 3: Volume rendered computed tomography image in soft tissue preset showing the diagonal pattern of soft tissue atrophy in the forehead (arrows)|
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|Figure 4: Computed tomography image in bone window showing the depressed left supraorbital ridge and frontal bone (arrows)|
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| Discussion|| |
PRS or progressive hemifacial atrophy is a rare neurocutaneous disorder of unknown etiology described by Parry in 1825 and Romberg in 1846. The disease is characterized by progressive but self-limited atrophy of the skin, soft tissues and sometimes of the bone affecting one half of the face or forehead. Approximately 25% of patients with facial hemiatrophy may show vertical or diagonal line on forehead which is called scleroderma “en coup de sabre” and is often described as a form of linear scleroderma having clinical overlap with PRS.,, The common neurological symptoms described in PRS include epilepsy, migraine, and facial pain.,, Atrophy of ipsilateral or rarely contralateral arm, trunk, or leg which may be present in 20% patients of PRS., Other clinical features which may be seen are masticatory spasm, dental abnormalities, ocular abnormalities (such as uveitis, heterochromia, and globe retraction), and autoimmune disorders (such as vitiligo, thyroid problems, systemic sclerosis, inflammatory bowel disease, rheumatoid arthritis, ankylosing spondylitis, and lupus)., Pathophysiology of this syndrome is unknown, and many possible causes have been forwarded ranging from trauma, migraine, slow virus infections, and disturbance of sympathetic nervous system.,, Some studies have also postulated on the possibility of inflammatory or immune-mediated mechanism as the most likely cause. CT and MRI findings commonly described include white matter changes, intracranial calcification, cerebral atrophy, and meningeal enhancement.,, The calcifications are better visualized on CT and may show gyral or sulcal pattern. On MRI, the white matter changes are seen as high-signal areas on Proton Density, T2-weighted and fluid-attenuated inversion recovery images and of low signal on T1-weighted images., Other brain imaging findings described are ventriculomegaly, cortical dysgenesis, intracranial vascular malformations, and aneurysms., The neuroimaging findings are usually ipsilateral to the skin lesion but rarely contralateral or bilateral abnormalities can also occur.
Our patient showed facial hemiatrophy along with a diagonal line on the forehead indicating a clinical overlap of PRS with linear scleroderma. He also had partial epilepsy which is a commonly described clinical manifestation. The small quadrigeminal plate lipoma seen in our case is likely to be an incidentally detected coexistent finding and has not been reported previously in a patient of PRS. The absence of any significant intracranial neuroimaging finding raises the possibility of subtle meningococcal dysmorphia or change of local vascularity as a possible pathologicalphysiological basis of epilepsy in our patient. Our study was however limited by the usage of CT as the sole imaging modality (the patient's psychiatric symptoms did not allow use of MRI), and it is also possible that minute white matter lesions may not have been detected.
The psychiatric ailments of agoraphobia and panic attacks with which the patient was suffering, had severely restricted his lifestyle and also limited his use of public transport. The other close differential of social phobia was ruled out based on the Diagnostic and Statistical Manual of Mental Disorders-IV criteria. Psychiatric complaints such as depression and anxiety have been described in PRS with an incidence of 10% and 46%, respectively. No literature is, however, available on presence of phobic disorders in these patients. The symptoms of agoraphobia in our patient had developed in adulthood, about 15 years after the onset of facial asymmetry. In view of the long time gap, a causal link between agoraphobia and PRS does not seem plausible and they are probably coexisting independent diseases.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
The authors would like to thank Mr. Sunil Dutt, senior radiographer for his valuable assistance in CT image acquisition.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Lehman TJ. The parry Romberg syndrome of progressive facial hemiatrophy and linear scleroderma en coup de sabre. Mistaken diagnosis or overlapping conditions? J Rheumatol 1992;19:844-5.
Stone J, Franks AJ, Guthrie JA, Johnson MH. Scleroderma “en coup de sabre”: Pathological evidence of intracerebral inflammation. J Neurol Neurosurg Psychiatry 2001;70:382-5.
Stone J. Parry-Romberg syndrome. Pract Neurol 2006;6:185-8.
Stone J. Parry-Romberg syndrome: A global survey of 205 patients using the internet. Neurology 2003;61:674-6.
Cory RC, Clayman DA, Faillace WJ, McKee SW, Gama CH. Clinical and radiological findings in progressive facial hemiatrophy (Parry-Romberg Syndrome). AJNR Am J Neuroradiol 1997;18:751-7.
Asher SW, Berg BO. Progressive hemifacial atrophy: Report of three cases, including one observed over 43 years, and computed tomographic findings. Arch Neurol 1982;39:44-6.
Sagild JC, Alving J. Hemiplegic migraine and progressive hemifacial atrophy. Ann Neurol 1985;17:620.
Okumura A, Ikuta T, Tsuji T, Kato T, Fukatsu H, Naganawa S, et al.
Parry-Romberg syndrome with a clinically silent white matter lesion. AJNR Am J Neuroradiol 2006;27:1729-31.
Pichiecchio A, Uggetti C, Grazia Egitto M, Zappoli F. Parry-Romberg syndrome with migraine and intracranial aneurysm. Neurology 2002;59:606-8.
American Psychiatric Association. DSM-IV-TR. Diagnostic and Statistical Manual of Mental Disorders. 4th
ed. Washington DC: American Psychiatric Association; 1994.
Dr. Narvir Singh Chauhan
Department of Radiodiagnosis, Dr. Rajendra Prasad Government Medical College, Set No. D 6, Type V Residences, Tanda Campus, Kangra, Tanda - 176 001, Himachal Pradesh
Source of Support: None, Conflict of Interest: None
[Figure 1], [Figure 2], [Figure 3], [Figure 4]