Progressive facial hemiatrophy: . MRI appearances Helena M Taylor. Senior Registrarin Diagnostic * Radiology: Richard Robinson. Professor. Department of *aediatric Neurology: Timothy Cox*. Consultant Ne iroradiologist: Guys Hospital stTl hams St reet. London SELORT.UK. *Correspondence to third author, The cranial CT and MRI appearances of a 14-year-old girl _ with Parry—Romberg syndrome and epilepsy are described. The findings are compared with the two published descriptions of MRI and CT in such patients. MRI. _ appearances in our patient differ from those published and may be consistent with 4 vascular malformation. The one published report on the intracranial histopathology of a patient with Parry-Romberg syndrome and epilepsy states . that a microscopic vascular malformation was found. We discuss the relationship between radiological and pathological findings. The possible aetiologies of Parry-Romberg syndrome (vascular malformation, immunological, trauma, sympathetic innervation, hereditary, slow virus) are. discussed. We suggest that Parry-Romberg syndrome could ” ‘be regarded as a neurocutaneous syndrome, a component of “which includes intracerebral vascular dysplasia. In this and the other three'cases of Parry-Romberg syndrome with _ epilepsy, the sensitivity of MRI in detecting intracranial lesions is demonstrated. Recommendations for i imaging these patients are proposed. 484 Developmental Medicine & Child Neurology 1997.39: 484-486 - > Veri 110d aseg. vorres Progress ve facial hemiatrophy or Par ry: Romberg Syndrome ibed by ry (1825) and Romberg (1846). It isa rare disorder characterised by unilateral (rarely bilateral) wasting of facial skin and subcutaneous tissue with variable involve- was des ment of muscle. cartilage. and-bone (Wolf and Verity 1974). Commonly the initial lesion is mentation immediately superior to the eyebrow. which then enlarges and becomes atrophic. The surrounding ‘tissues become atrophié and there may be a'deep paramedian fore. _ sinall area of abnormal pig- - head scaren coup de sabre which demareates atrophic: and nore mat tissue (Rischbieth 1976). The syndromeis more common in females, with onset in the » first or second decade. and its aetiology. is obscure (Hie¢kman and Sheils 1964). Trauma. infection with a slow virus. sympa- thetic dysfunction. immunological abnormality. and cranial vascular malformation are proposed causes. Fifteen percent. of patients have neurological. disorders (Ledermin’ 1984). most.commonly epilepsy (Wolf and Verity 1974). Migraine. hemiplegia. and a variety of.ophthalmotogi- cal abnormalities. such as ptosis. enophthalmos. Horner's syn- drome. uveitis: and keratitis. have been deséribed (Wolf and 1974). The one published report of the brain biopsy findings in a patient with unequivocal Parry-Romberg sy’ drome and epilepsy showed abnormal blood vessels in the ce ‘bellar leptomeninges.. suggestive of a microscopic vascular malformation. gliosis, and cell loss (Wolf and Verity 1974). “We describe the third reported case of cranial MRT and CT findings in Parry-Romberg syndrome with epilepsy. The rela- tion between the histopathological findings and i imaging fen- tures is discussed. Recommendations for imaging patients with t arry-Romberg syndrome are proposed. . Case report An 18-month-old girl presented with a-sear at the junction of |. ‘thé medial and outer two-thirds of her right eyebrow, followed by indentation of her forehead. Progression to involve the cheek and nostril with alopecia over the indentation occurred throughout childhood. At 2 years of age. she experienced. a single gener ralised 20- | minute fit with no further fits. Nine years latershe had clusters of marked déja vu which later progressed to’ frank complex partial seizures characterised by disturbed consciousness, face and hand automatisms. and attempted speech. lasting | ‘to3 minutes with full recovery. An initial awake EEG was nor- ‘mal but one taken’a year later showed a few brief bursts of high-amplitude delta waves. predominantly on the left. The epixodes are currently well contained by a combination of bamazepine and lamotrigine. : _ At FH] years she developed anteriay uveitis of the right eye. treated succes visioninthe right eye deteriorated abr’ uptly. Fundusexamina- tion revealed new vessel formation obscuring the optic disc. A fluorescein angiogram showed changes consistent with inflam. matory retinal vein occlusion. A ( thalmos on the right and cale temporal lobe. : ; An MRI. scan demonstrated right: facial atrophy with ~ reduction in subeutancous fat over the right side of the fore- scan demonstrated enoph- ation within the right head and overlying scalp of the right parietal region. with reduction in size of the right manillary, ethmoid. and frontal sinuses. Anarea of mixed signal in the righit temporal lobe was identified, Discussion . : The two patients described by Fry et al. (1992) with Parry- Rombe yndrome and epilepsy demonstrated intracerebral calcification on the CT sean which was similar in appearance to our patient. However. cranial T2-weighted MRI scans of their two patients revealed foci of high signal whereas: eA our case showed a low signal area containing a signal void. Terstegacet al. (1994) also described a case of Parry- “Romberg syndrome and epilepsy with white matter hyperintensity on -ranialT2-weighted MRI scan but no CT s can was performed. Wolf and Verity in 1974 published the only recorded brain Diopsy findingsin a patient with unequivocal Parry- Romberg syndrome and epilepsy. Abnormal blood vessels with mural hyalinization were demonstrated in the cerebellar ‘lep- tomeninges. consistent with the diagnosis of a vascular mal- formation. This concurs with the more recent findings of Chung et al. (1995). They reported the brain biopsy findings in a27-yeai-old woman w ithlinearscleroderma ez coup de sabre — considered by many authors to have overlapping clinical and histological features with Parry Romberg syndrome (Tan et al. 1989. Lehman 1992. Carcia-De La Torre et wi. 1995) - who Figure 1: Axial CT scan demonstrates focal calcifications within right temporal lobe. © developed complex partial seizures. Ectatic abnormal ve: fully with topical steroids, One year later 8 were found in the left frontal lobe. with calcifications and glio- csix in the surrounding brain tissue and sclerotic lep- tomeningeal vessels. They proposed that their findings were consistent with a neurocutaneous sy ndrome of vase ralar dys- genesis similar to Sturge Webersyndrome, Vascular malformations and the intracranial lesion seen in our patient with Parry-Romberg syndrotie: and epilepsy share important clinical features. Headache. seizures. and focal neurological defects are recognized in both (Wolf and _ Verity 1974. New et al. 1986). Cerebral calcitic ation isa well described radiological feature of both (Merritt et al. 1937, Holland etal. 1985, Fry et al. 1992). and isan important cause of the low signal seen on T2-weighted images of patients with vascular malformations (Kucharezyk et al. 1985). Vascular flow is a recognized cause of absent signal in vascular malfor- mations (Gomori et al. 1986) and may be contributory in patients with Parry-Romberg syndrome. Lehman (1992) described a child with sealp atrephy and an underlying arterioveriaus malformation detected angiograph- os of ically. However, two angiographically normal ca Parry Romberg syndrome with epilepsy have been deseribed (Asher and Berg 1982. Fry et al71992). making large vessel involvement unlikely but not excluding small vessel disease. The — clinical patients with Parry: Romberg syndrome and linear scleroderma have led similarities between Figure 2: 7'2-weighted MRI shows signal void within low signal area, corresponding to focal calcification on CT. Progressive facial hemi-atrophy: MRI appearances Helena VM. Taylor etal, 485 some authors to propose an immunological cause for the for ~-mer( Hickman and Sheils 1963. Lehman.1992).Thishasimpor- tant therapeutic implications as no specific treatment ¢ for Parry Romberg syndrome whereas lines may ‘respontto anti-inflammatory therapies (Lehman 1992). Qarcia-De La Torre et al. (1995) found that 8 of 14 patients with Parry-Romberg syndrome were ANA-positive and the serum -of five: patients contained ‘rheumatoid ‘factor. Anticentromere antibodies were found in two patients and antihistoncantibodiesin three. These autoantibodies ar monly found in the serum of patients with systemic However. Larner and Bennison (1993) described a 23-vear-old male with Parry -Romberg syndrome and negative serology for autoantibodies. i. . ‘Trauma isa possible actiological factor in Parry: Romberg syndrome, Merritt etal. (1937). Asher and. Berg (1982). and Pry et al. (1992). deseribe children who sustained minor head clerosis. trautna: arid later developed the -clinical features of Parry Romberg syndrome. Larner and Bennison (1993) describe a 2) arold male with Parry- Romberg syndrome after a bite to his chin at'age 14 vears: Merritt et al. (1937). Hickman ind Sheils (1963). Ashe and Berg (1974).and Fry et - al. (1992) have! reported cases of Pari Romberg syndrome an without antecedent trauma. Wolfand Verity (1974) hive proposed a slow virus asa poss- ible cause but failed to isolate any organism from cerebral and cerebellar tis Merritt, et ale (1937) and Ter'stegge et al. (1994) found tio: evidence of infection in the CSF of their patients with Parry-Romberg syndrome and epilepsy: Facial hemiatrophy was produced in young rats by Mos and Crikelair (1959). who performed unilateral sympath- ecto. Howe syndrome is and abnormalitic inall patient : The occ omber vadrome. in the svinpathetic system are not found onal familial occurrence of P: arry -Romberg drome has led some authors to propose a hereditary cause. Many reports do not mention whether a family history was specifically Sought. Merritt et al. (1937) and Hickman and Sheils (1963) dese ribe cases of Pa with unequivocally negative fami No single aetiological theo: clinical and imaging findings:in Pa Oursubject and the three y—-Romberg s¥ndrome - histories. . tis Xplains the v-Romberg syndrome. es of Parry- Romberg syndrome factorily and-epilepsy described in ‘the literature (Fry et al. 1992. Terstegge et al: 199-4) demonstrate the usefulness of MRI in delineating the intracerebral abnormalities in these patients. A case of Pa arry ‘Romberg syndrome with mild hemipar hormal CT brain sean. and abnormal MRI- sean has been reported (Fry ot at. 1992). suggesting that MR Fis more sensi- ~ tive than CT in demonstrating brain involvement in these patients. These authors described neurological abnormalities in four of six patients with Parry- Romberg syndrome'and MRI abnormalities in five. They conchide that_undetlying cerebral lesions with or without neurological symptoms may be more common in Parry -Romber, syndrome than previous- ly thought. Conclusion A significant mi drome have underlying brain involvement. We stiggest. that cranial MRT is & useful examination in the evaluation of such 486, Developmental Medicine de Child Newrulogy 1997.39: 484-486 ; » suc scleroderma. _ Fryda yN- Lederman Ru. (1984) Progr _ Rischbieth RHC, (1976) Progress ority of patients with Parry- Romberg syn: patients. The brain histopathological reports currently avail-. able suggest a vascular pathogenesis and the proposal that ‘patients have a neurocutaneous syndrome with intra- cerebral vasculat dysplasia appears justified, The cranial imaging featuresof our patient are consistent with this theory. Acre pted for publication [8th December 1996... References Asher SW, Berg BO. 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