Parry-Romberg syndrome with multiple intracranial cysts: A rare case report.

Parry-Romberg syndrome (PRS) is a rare, poorly understood degenerative condition characterized by atrophic changes affecting one side of the face. The cause of these changes remains obscure. Migraine and facial pain such as trigeminal neuralgia are the most common neurological symptoms in this patient group. Sometimes, it causes epilepsy and rarely cerebral hemiatrophy, meningeal thickening, cortical dysgenesis, calcified lesions, aneurysms, and intracranial vascular malformations. Herein, the author reports the first case of PRS with multiple large intracranial cysts producing raised intracranial pressure.

Introduction

Parry–Romberg syndrome (PRS) also known as “progressive facial hemiatrophy” is characterized by a progressive atrophy of the skin and subcutaneous tissue, sometimes bones on one side of the face. In rare cases, both sides of the face are affected.[1] It was first described by Caleb Hillier Parry in 1825 and later in more detail by Moritz Heinrich Romberg in 1846.[23]

There is a progressive wasting of subcutaneous fat, sometimes accompanied by the atrophy of skin, cartilage, bone, and muscle.[4] It overlaps clinically with scleroderma. A sharply demarcated line between normal and abnormal skin develops called as coup de saber.[4] In most of the instances, atrophy is usually confined to one side of the face and cranium; however, it may occasionally spread to the neck and one side of the body.[4]

PRS usually becomes apparent during the first decade of life or early during the second decade.[5] Migraine and facial pain such as trigeminal neuralgia are the most common neurological symptoms in this patient group. Sometimes, patients developed epilepsy and it can be related directly to a brain abnormality ipsilateral to the skin lesion. This may be visible only on magnetic resonance imaging (MRI) as a lesion in the underlying gray or sometimes white matter.[56] Other cerebral abnormalities associated with PRS are cerebral hemiatrophy, meningeal thickening, cortical dysgenesis, calcified lesions, aneurysms, and intracranial vascular malformations.[56]

The exact etiology of PRS is not known.[5] Different theories have been proposed to explain this rare condition including abnormal development or inflammation of the sympathetic nervous system, viral infections, meningoencephalitis, trauma, abnormalities of blood vessel formation (angiogenesis), or autoimmunity. PRS occurs sporadically and some familial distribution has been found.[7] The prevalence is at least 1/700,000 and it may be more common in females.

There are no published trials of the treatment; however, the restorative plastic surgery which includes fat or silicone implants, flap/pedicle grafts, or bone implants can be used.[18] In severe and progressive disease, immunosuppressive drugs such as methotrexate, corticosteroids, cyclophosphamide, and azathioprine should be considered, but their exact beneficial role is unclear. More research is necessary to determine the long-term safety and effectiveness of immunosuppressive drugs in the treatment of PRS.[8]

Herein, the author presents the first case report of PRS with multiple intracranial cyst.

Case Report

A 14-year-old boy presented with a history of headache for one 1 month and vomiting and diminished vision for the past 8 days. The patient's medical and family history was noncontributory.

On physical examination, facial asymmetry was present on the right side, the malar hypoplasia and the atrophy of facial skin and upper lip were present on the right side. Loss of the subcutaneous fat with prominent bony ridges on the ipsilateral side was observed when compared to the normal side. There was a deviation of nose and the angle of mouth to the affected side. “en coup de sabre” was present over the chin, i.e., a sharply demarcated line between normal and abnormal skin present over the chin [Figure 1].

Figure 1

Right-sided facial asymmetry with “en coup de sabre” present over the chin

Neurological examination revealed right-sided papilledema with left hemiparesis.

MRI brain and three-dimensional computed tomography (3D CT) face were advised. MRI brain revealed multiple cystic lesions on the right half of the brain of varying size, largest one was 6 cm × 5 cm in size in parieto-temporal location. Another large lesion was noted adjacent to this lesion anterior to it. There was perifocal edema resulting in mass effect with mid-line shift. Contents of the cysts appeared to be like cerebrospinal fluid [Figures 2–4].

Figure 2

Magnetic resonance imaging T2-weighted image showing multiple cystic lesions in the right parieto-temporal region with mass effect

Figure 4

Magnetic resonance imaging brain with sagittal section with contrast showing multiple nonenhancing cystic lesion in the right tempero-parietal region

Magnetic resonance imaging brain axial section with contrast showing right-sided cystic lesions without contrast enhancement

3D CT face revealed involvement of soft tissues over the right side of the lower face. Bony structures appeared to be normal except the smaller right maxillary sinus when compared to the left side [Figure 5]. Based on the clinical features and radiological examination, a diagnosis of PRS with multiple intracranial cyst was made.

Figure 5

Three-dimensional computed tomography face showing normal bony structures with small right maxillary sinus

In view of symptoms of raised intracranial pressure (ICP) and mid-line shift, the patient was subjected to surgery. Right tempero-parietal craniotomy was done. Intraoperatively, the dura was tense. To localize the lesion, intraoperative ultrasound was used. Large cyst was encountered containing hemorrhagic fluid. The cyst wall was very thin and ill defined. Biopsy of the cyst wall and the surrounding abnormal-looking brain matter was taken. Another similar cyst was encountered anteriorly which was also similar in nature containing hemorrhagic fluid. Microsurgical marsupialization along with cysto-ventriculostomy was done. Procedure was uneventful. Histopathology of the cyst wall revealed flattened out surface without identifiable epithelium, supported in part by collagenous tissue suggestive of arachnoid cyst. The patient had good postoperative recovery with relief of all the symptoms.

Discussion

PRS is an acquired poorly understood rare neurocutaneous syndrome of unknown etiology characterized by slow progressive atrophic changes commonly affecting one half of the face involving muscles, bones, and skin. The exact incidence and etiology toward the syndrome remains unclear. The atrophy is insidious in onset occurring in the first two decades of life lasting for 2–10 years followed by burning out of the atrophy with resultant stability.[9] The main feature is hemiatrophy of the facial tissues, typically fat, but variably skin, other connective tissue, and sometimes bone. All these features were present in the case herein.

Other important features present in PRS area demarcation line between normal and abnormal skin, known as “coup de sabre” (French term which means “cut of the sword”),[10] and the deviation of mouth and nose to the affected side[11] was also found in our case.

Compared to the healthy population, the involvement of central nervous system seems to occur more often in patients with PRS, most commonly consisting of migraine-type headache, focal epilepsy, and trigeminal neuralgia. A recent global internet survey of 205 patients with PRS estimated the involvement of central nervous system to be over 50 percent.[12] Fifteen percent of patients have neurologic manifestations that include epilepsy, migraine headache, cranial nerve deficits, hemiplegia, cognitive abnormalities, and fixed focal neurologic deficits.[1314]

Cranial CT and MRI findings in PRS are usually ipsilateral to the facial hemiatrophy and include intraparenchymal calcifications, focal or diffuse white matter hyperintensities, focal infarction of the corpus callosum, loss of cortical gyration, cerebral hemiatrophy, and leptomeningeal enhancement.[1516]

Reported neurovascular findings include multiple intracranial aneurysms, reversible vascular narrowing, and vascular malformation.[171819] There is one reported fatal case in a child with associated “Rasmussen-type” encephalitis.[1]

Neuropsychiatric problems are common in PRS patients with reported prevalence as high as 50%. In accordance with these findings, several neuroradiological abnormalities have been described in patients with PRS (e.g., cerebral hemiatrophy and calcifications), but there was no case report of PRS associated with multiple intracranial cyst.

In 1995, Schievink et al. reported a case of spontaneous carotid-jugular fistula and carotid dissection in a patient with multiple intracranial arachnoid cysts and hemifacial atrophy, but the author considered this as a part of a previously undescribed generalized connective tissue disorder.[20] Although the etiology of PRS is unknown, several causes have been proposed. It has been postulated that it actually falls within the spectrum of localized, linear scleroderma.[21]

To our knowledge, this is the first case report describing an association between PRS and multiple intracranial cyst. There are no published trials of treatment, so patients with PRS are treated symptomatically. In our case, the patient had symptoms of raised ICP and mass effect, so we treated him with craniotomy with microsurgical marsupialization along with cysto-ventriculostomy, and postoperatively, the patient had a relief of all the symptoms.

Although very rare, there may be an association between PRS and multiple intracranial cysts. More study and case reports will be needed to confirm this association.

Conclusions

PRS is an uncommon degenerative and poorly understood condition. In most cases, PRS appears to occur randomly for unknown reasons. The pathophysiology of the syndrome remains unknown.

We hereby presenting only a case report of PRS with multiple large nonspecific intracranial cysts producing mass effect and requiring surgical intervention for the same.

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.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.