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070122 PRS.pptx
- 1. Neurology Department Ward Mini Lecture Series Fangyuan Chen, 8th year MD candidate July 4th, 2022 1 Neurological imaging and clinical manifestations in Parry Romberg syndrome (PRS)
- 2. Outline • Background • General • Epidemiology & Pathology • Etiology • Radiological sign • Neurology-related manifestations • Tonic pupil 2
- 3. General • Progressive (hemi)facial atrophy, C Parry & M Romberg • Idiopathic, gradually progressive craniofacial asymmetry, following the atrophy of subcutaneous tissue, muscles, osseous, and cartilaginous structures • Manifests in the first two decades in morphologically normal-born individuals • Affects one or more dermatomes in the trigeminal nerve territory • Early onset of ophthalmic and neurological involvement and a variable maxillo-facial or cardiac involvement 3
- 4. Epidemiology & Pathology • 0.3-2.5 / 100,000 per year, M:F = 1-3 • Avg age of Dx = 13.2yo, slowly progressive, ”burn out” w/i 2-20y => spontaneous remission • Involvement ophthalmic 35%, neurological 15-20% • Pathology • Near-complete dermal fat atrophy, minimal sclerosis, and reduced adnexal structures • A diffuse pattern of dermal infiltration with lymphocyte predominance and perivascular plasma cells • Brain Bx - lymphocytic interstitial vasculitis 4
- 5. Etiology • Trophoneurosis – dysfunction of the trophic fibers of trigeminal n. • Immune-mediated – overlap w/ linear morphea (a form of SS) • Neuro-vasculitis– lymphocytic vasculitis (~ Rasmussen encephalitis) • Neural crest cell disorder – cerebral vascular malformation, soft tissue tumor etc. • Sympathetic dysfunction - superior cervical sympathetic plexus inflammation or dysfunction => ipsilateral facial atrophy, enophthalmos, and bone atrophy • Hereditary – a few family cases, X specific inheritance pattern / gene isolated • Trauma-induced - Online surveys of PRS patients have established a debatable association of head injury in early childhood to the onset of symptoms • Infectious causes - Preceding infections with Varicella zoster virus, Herpes simplex virus, and Borrelia burgorferi have been described as risk factors 5
- 6. Radiological sign by frequency 6 Vix et al., Medicine, 2015 1995-2015
- 7. Radiological sign (CT / MRI) • Atrophy on one side of the face +/- scalp • High (T2/FLAIR) signal of white matter within the ipsilateral, and less commonly, contralateral brain parenchyma • Ipsilateral, and less often, contralateral leptomeningeal enhancement • Ipsilateral parenchymal atrophy • Ipsilateral parenchymal calcification • Ipsilateral cerebral microhemorrhages • Intracranial aneurysms 7 Weerakkody, Y., Bell, D. Parry-Romberg syndrome. Reference article, Radiopaedia.org. (accessed on 01 Jul 2022) https://doi.org/10.53347/rID-12633 *No case of cerebral edema yet reported
- 8. Atrophy on one side of the face +/- scalp 8 Wong et al., AJNR, 2015
- 9. High (T2/FLAIR) signal of white matter 9 R internal capsule R corona radiata L Subcortical white matter (frontal, parietal, temporal lobes) L periventricular white matter Wong et al., AJNR, 2015
- 10. Ipsilateral leptomeningeal enhancement 10 Tan et al., Child’s Nervous System, 2018
- 11. Ipsilateral parenchymal atrophy 11 L hemisphere atrophy + ventriculomegaly R hemisphere atrophy (esp. frontal + parietal regions) Carreno et al., Neurology, 2007
- 12. Ipsilateral parenchymal calcification 12 L basal ganglia L subcortical calcification with adjacent white matter hypodensity Ahmed et al., Journal of Clinical Neuroscience, 2020; Gunasekera et al., Practical Neurology, 2021
- 13. Ipsilateral cerebral microhemorrhages 13 Wong et al., AJNR, 2015; Garza-Ramos et al., AJNR, 2022 SWI, R hemisphere L hemisphere
- 14. Intracranial aneurysms 14 Left MCA aneurysm Pichiecchio et al., Neurology, 2002
- 15. Neurological symptoms by frequency 15 Vix et al., Medicine, 2015 1995-2015
- 16. Neurologic manifestations • Epilepsy: Focal, generalized seizures or status epilepticus • Pain: Headache, trigeminal neuralgia, and facial pain • Cerebrovascular accidents: Ischemic stroke, cerebral hemorrhage, microinfarcts, microhemorrhages, and subsequent cerebral atrophy • Vascular malformations: Aneurysms, cavernoma, hypoplastic or stenotic vessels • Movement disorders: Muscle spasms, synkinesia, pyramidal symptoms, dystonia, torticollis, and gait disturbances • Speech abnormalities: Aphasia and dysarthria • Limb abnormalities: Limb weakness, pain, or atrophy in rare cases • Neuropsychiatric manifestations: Cognitive disturbances, hallucinations, and psychiatric disorders 16 https://www.ncbi.nlm.nih.gov/books/NBK574506/
- 17. Ophthalmic manifestations • Enophthalmos: Progressive enophthalmos secondary to atrophy of retrobulbar fat and the alterations in orbital anatomy due to bone atrophy • Eye-lid alterations: Pseudoptosis secondary to enophthalmos, lid retraction, lagophthalmos 兔眼, eyelid atrophy, and late-onset eyelid pseudo-coloboma. • Orbital tumors: Orbital neurinoma - an incidental finding on magnetic resonance imaging (MRI) • Extraocular muscle (EOM) changes: Thinning or fibrosis of EOM, sudden onset horizontal or vertical strabismus, nystagmus, and diplopia. • Conjunctival pigmentation: Abnormal pigmentation of the palpebral conjunctiva • Scleral finding: Spontaneous scleral melt 17 https://www.ncbi.nlm.nih.gov/books/NBK574506/
- 18. Ophthalmic manifestations • Corneal manifestations: Reduced corneal sensations, reduced stromal nerve fibers on confocal microscopy, exposure to keratopathy with secondary infective keratitis, keratitic precipitates, primary endothelial failure, stromal edema, band- shaped keratopathy, and flour-like deposits in the corneal stroma. • Uveal changes: Acute uveitis with iritis, iridocyclitis, vitretis, pan-uveitis, iris atrophy, iris crystalline deposits, and Fuchs heterochromic iridocyclitis. • Lens findings: Cataract and lenticular dislocation • Intra-ocular pressure (IOP) alterations: Rise of IOP with acute trabeculitis or end- stage neovascular glaucoma, and ocular hypotony with iridocyclitis, ciliary body hypotrophy, or atrophy • Retinal findings: Retinal vasculitis, neuroretinitis, telangiectasia, pigment epithelial changes, retinal folds, exudative retinal detachment (RD), Coats disease, central retinal artery occlusion, chorioretinal atrophy, and retinitis pigmentosa like changes • Involutional stage: Multiple vitreoretinal or glaucoma filtration surgeries predispose the globe to involutional changes 18 https://www.ncbi.nlm.nih.gov/books/NBK574506/
- 19. Neuro-ophthalmological manifestations • Optic nerve involvement: Optic neuropathy and papillitis • Cranial nerve palsy: Oculomotor and trochlear nerve palsy, with restrictive strabismus • Anisocoria: Horner syndrome and tonic pupil - due to autonomic disturbances • Tonic pupil – glare, diminished ability to focus at near 19 https://www.ncbi.nlm.nih.gov/books/NBK574506/
- 20. Tonic pupil 20 https://entokey.com/adies-pupil/ The ciliary ganglion and/or the postganglionic fibers are damaged in Adie’s pupil.
- 21. Tonic pupil 21 UpToDate Tonic pupil in the right eye Poor pupillary light reaction Segmental palsy of the sphincter Tonic pupillary near response with light-near dissociation Cholinergic supersensitivity of the denervated muscles Accommodation paresis (that tends to recover) Induced astigmatism散光 at near and tonicity of accommodation Occasional "ciliary cramp" (accommodative spasm) with near work Occasionally regional corneal anesthesia (trigeminal fibers in ciliary ganglion damaged)
Editor's Notes
- 刀砍样线状硬皮病(linear scleroderma en coup de sabre，LSCS) The currently used classification system for PRS cases is:[39] Mild: Skin and/or subcutaneous fat atrophy over a single division of the trigeminal nerve Moderate: Skin and/or fat atrophy involving two branches of the trigeminal territory Severe: Atrophy spread over all three divisions of the trigeminal nerve or any bony atrophy
- trophic fibers 营养纤维 cicatricial alopecia - 瘢痕性脱发 Scarring, or cicatricial alopecia, is an inflammatory condition that destroys hair follicles, causing scarring and permanent hair loss
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617071/
- https://radiopaedia.org/articles/parry-romberg-syndrome
- http://www.ajnr.org/content/36/7/1355 A 14-year-old boy who presented with progressive atrophy of the left face. A, T1-weighted image shows striking paucity of fat in the left face. B, 3D reconstruction of a CT series demonstrates left facial hemiatrophy, particularly involving the mandible. C, T1-weighted image at the level of the orbits reveals left enophthalmos.
- B and C, Axial FLAIR images demonstrate abnormal hyperintensity of the white matter in the right corona radiata, internal capsule, and temporal region.
- Parry-Romberg syndrome. a Axial T2-weighted image shows the presence of white matter signal abnormalities in the left frontal lobe. b Post-contrast administration, abnormal leptomeningeal enhancement is present in the left frontal region (white arrows). c There are also subcortical calcifications in the left frontal lobe, seen as foci of paramagnetic susceptibilities on susceptibility-weighted imaging (SWI) https://www.researchgate.net/figure/Parry-Romberg-syndrome-a-Axial-T2-weighted-image-shows-the-presence-of-white-matter_fig2_326860099
- D. Preoperative MRI (T1) B. Preoperative MRI (T2)
- https://www.sciencedirect.com/science/article/abs/pii/S0967586820302496 https://practicalneurology.com/articles/2021-oct/parry-romberg-syndrome-with-drug-resistant-epilepsy
- Fig 5.A 30-year-old woman with a history of PRS who presented for MR imaging evaluation for weakness and recurrent headaches. A, Coronal enhanced T1-weighted MR image demonstrates mild asymmetry of scalp thickness with relative paucity of subcutaneous fat on the right. B and C, Axial FLAIR images demonstrate abnormal hyperintensity of the white matter in the right corona radiata, internal capsule, and temporal region. D, Axial susceptibility-weighted image demonstrates innumerable punctate foci of susceptibility throughout the right cerebral hemisphere. A, Axial FLAIR MR imaging in a patient with epilepsy shows severe, confluent left hemisphere white matter hyperintensity with extensive areas of punctate susceptibility artifacts throughout the left hemisphere on susceptibility-weighted imaging (B). Most of the hypointense foci on susceptibility-weighted imaging are hypointense on the matching phase image (C), consistent with prior microhemorrhages; however, few show hyperintense signal on the phase image (arrows in B and C), consistent with calcifications (confirmed by CT, not shown).
- T2, angiography
- Synkinesis联动 describes unwanted contractions of the muscles of the face during attempted movement.
- 眼球内陷
- 眼球退化性改变
- Anisocoria 瞳孔不等大 papillitis 乳头炎 A visual evoked potential is an electrophysiological test that is designed to measure the function of the optic nerves. – her VEP is normal
- The ciliary ganglion and/or the postganglionic fibers are damaged in Adie’s pupil. The postganglionic fibers are separate for pupil constriction and for accommodation. Input to the ciliary ganglion is from the pupillary light reflex and the near effort originating from the midbrain.
- 强直瞳孔 调节反射 The tonic pupil constricts poorly or not at all to light but reacts better to accommodation (near response), such that the initially larger tonic pupil becomes smaller than its normal fellow and remains tonically constricted, redilating very slowly when exposed to dark. light-near dissociation - An attenuated pupillary light reflex with a relatively preserved pupillary near reflex. Seen in conditions that selectively damage the dorsal midbrain regions involved in the light reflex but spare the more ventral fibers involved in the near reflex (e.g., Parinaud syndrome, Argyll-Robertson pupil in neurosyphilis). Accommodation: adjustment of the eyes to different distances (near vision versus far vision) – lens Convergence - Simultaneous inward movement of both eyes to maintain focus on close objects (e.g., eyes crossing when looking at one's own nose) Accommodation reflex: The synkinetic constriction of the pupil (miosis), convergence of the eyes, and accommodation of lens convexity in response to a suddenly closer object. Astigmatism - A condition in which uneven curvature of the cornea hinders even refraction. Leads to placement of the focal point anterior or posterior to the retina, which causes unclear vision at all distances. The typical features of a tonic pupil are seen in the right eye. The photos were made with a prism to bring the eyes closer together. Pupil size asymmetry (anisocoria) is greater in light, particularly in bright light. The tonic right pupil constricts poorly to light and better to near (light-near dissociation). The tonic pupil also demonstrates denervation supersensitivity to low-dose pilocarpine by constricting better than the fellow left pupil.