Parry-Romberg syndrome associated with Adie’s pupil and radiologic findings

doi:10.1016/S0887-8994(01)00333-2

Pediatric Neurology

Volume 25, Issue 5, November 2001, Pages 416-418

https://doi.org/10.1016/S0887-8994(01)00333-2 Get rights and content

Abstract

We describe Adie’s pupil and radiologic changes related to Parry-Romberg syndrome in a child who presented with facial hemiatrophy with no neurologic deficit. We suggest that cerebral lesions in Parry-Romberg syndrome without neurologic symptoms must be carefully investigated.

Introduction

Progressive facial hemiatrophy, or Parry-Romberg syndrome, was described by Parry [1] and Romberg [2]. It is a rare disorder that is characterized by progressive and self-limited atrophy of the skin, the subcutaneous tissues, and, sometimes, the underlying bone structures. The atrophic process affects mainly the upper face but can extend to various sites, such as muscle, pharynx, or larynx [3]. Ophthalmic involvement is common, and the most frequently reported abnormality is progressive endophthalmos [4].

We describe a case of Parry-Romberg syndrome with ocular and neuroradiologic findings without focal neurologic abnormality or epilepsy. An unusual ocular manifestation in our patient was a left Adie’s tonic pupil.

Section snippets

Case report

A 4-year-old male patient was normal until 2 years of age. At that time, he developed a violaceous rash over the left side of his forehead, and thereafter he progressively developed a left facial hemiatrophy (Fig 1). His developmental milestones were normal, and there was no history of trauma or major illness. An erythematous, macular, ill-defined patchy rash involved his entire left forehead and terminated relatively abruptly at the midline.

During ophthalmologic examination, visual acuity

Discussion

Parry-Romberg syndrome is a sporadic disease. The syndrome is more common in females, with onset in the first or second decade [5], [6]. The cause is unknown. Trauma, a slow virus infection, sympathetic dysfunction [7], immunologic abnormality [8], and cranial vascular malformation are proposed causes [4], [5]. In the present case, there was no trauma, vascular malformation, or infection.

Ophthalmic changes are commonly reported in 10%-35% of cases [4], [9]. Frequently reported findings include

References (17)

R.S. Muchnick et al.
Ocular manifestations and treatment of hemifacial atrophy
Am J Ophthalmol
(1979)
Parry CH. Collections from the unpublished medical writings of the late Caleb Hillier Parry. London: Underwoods,...
Romberg HM. Klinische Ergebnisse. Berlin: Forrtner,...
S. Dupont et al.
Progressive facial hemiatrophy and epilepsyA common underlying dysgenetic mechanism
Neurology
(1997)
M.T. Miller et al.
Progressive hemifacial atrophy (Parry-Romberg disease)
J Ped Ophthalmol Strabismus
(1987)
H.M. Taylor et al.
Progressive facial hemiatrophyMRI appearances
Dev Med Child Neurol
(1997)
H. Goldberg-Stern et al.
Parry-Romberg syndrome. Follow-up imaging during suppressive therapy
Neuroradiology
(1997)
P. Lonchampt et al.
Central sympathetic dysregulation and immunological abnormalities in a case of progressive facial hemiatrophy (Parry-Romberg disease)
Clin Autonom Res
(1995)

There are more references available in the full text version of this article.

Cited by (38)

Parry-Romberg syndrome: A case report and literature review
2024, Radiology Case Reports
Parry-Romberg syndrome (PRS) is a rare neurocutaneous and craniofacial disorder characterized by progressive hemifacial wasting and atrophy that predominantly affects children and young adults, with an estimated prevalence of 1 in 700,000 individuals. Despite its rarity, PRS poses significant challenges for patients, their families, and healthcare providers due to its unpredictable course and potential functional and aesthetic impairments. The main aim is to provide a comprehensive overview of PRS, encompassing its clinical features, pathogenesis, and management techniques. We present a case of PRS in a 9-year-old female with pronounced facial asymmetry, with marked wasting and atrophy involving the entire right side of the face. CT scan revealed right sided hypoplasia of maxilla, mandible, and zygomatic arch with enophthalmos of right eye. MRI showed right temporalis, medial and lateral pterygoid, masseter, risorius, buccinator, zygomaticus major and minor, levator labii superioris, levatorangulioris and orbicularis oris muscles atrophy. The clinical presentation of PRS typically involves progressive facial atrophy, predominantly affecting the subcutaneous tissues, muscles and bones. Patients may experience various symptoms as the condition advances, including facial asymmetry, hemifacial pain, dental and ocular abnormalities and neurological manifestations. The exact etiology of PRS remains unknown, although autoimmune, genetic and vascular factors are likely contributors. Treatment of PRS needs a multidisciplinary approach involving dermatologists, plastic surgeons, neurologists, ophthalmologists, and dental specialists. Treatment options aim to alleviate symptoms, improve function and address cosmetic concerns. Surgical interventions such as autologous fat grafting, facial reconstructive procedures and orthognathic surgery have restored facial symmetry and function. Additionally, nonsurgical modalities, including botulinum toxin injections, prosthetic devices and dental interventions, may offer symptomatic relief and enhance overall quality of life.
Holmes-Adie syndrome as an early manifestation of systemic lupus erythematosus
2021, Archivos de la Sociedad Espanola de Oftalmologia
El lupus es una enfermedad autoinmune que afecta a múltiples órganos, con diversas manifestaciones, siendo las neurooftalmológicas poco frecuentes en esta entidad. El origen de la pupila tónica de Adie es principalmente idiopático y la causa inmune es excepcional. Cuando esta se asocia con alteración de los reflejos osteotendinosos, se describe como síndrome de Holmes-Adie. Presentamos un caso de síndrome de Holmes-Adie como posible primera manifestación de lupus eritematoso sistémico.
Lupus is an autoimmune disease with multiple manifestations and multiorgan damage. Neuro-ophthalmic disorders are the less common ophthalmological manifestations of lupus. Adie's tonic pupil is mostly idiopathic and may rarely be caused by autoimmune disorders. The combination of abnormal pupil size and a decrease or loss of deep tendon reflexes is usually called Holmes-Adie syndrome. A case is reported of Holmes-Adie syndrome as an early manifestation of systemic lupus erythematosus.
Craniofacial bone atrophy in Parry Romberg syndrome demonstrated using a Bayesian hierarchical model
2019, Journal of Cranio-Maxillofacial Surgery
Citation Excerpt :
PRS symptoms usually develop during the first 20 years of life, although late-onset forms have been reported (Mendonca et al., 2005). An early onset could be a risk factor for greater severity (Aynaci et al., 2001). The prevalence of PRS is higher in women (Aynaci et al., 2001; Moko et al., 2003; El-Kehdy et al., 2012) and the disease is mostly active in the first and second decades of life, with a slight left predominance (Pichiecchio et al., 2002; Moko et al., 2003; Tollefson and Witman, 2007).
Parry Romberg syndrome (PRS) is a condition characterized by progressive hemifacial atrophy, predominantly affecting the soft tissues. Associated bone retraction is a common clinical feature of PRS but has never been assessed. Here we used 3D imaging and Bayesian statistics in order to demonstrate and quantify bone atrophy in PRS.
Ten non-operated patients with PRS (4/10 males) and 12 age-matched controls (7/12 males) were included into the study. The average age at CT-scan was 9.67 ± 4.13 years for PRS patients and 12.5 ± 4.37 years for controls. Soft and hard tissue atrophy levels were quantified using computed tomography scans, based on the distances between surfaces of the affected side and the non-affected contralateral side, both for the skin and the bone. We used a hierarchical Bayesian model with clinical priors in order to assess the relationship between hard and soft tissue atrophies.
PRS patients had significant hard tissue atrophy, and atrophy extents were similar for soft and hard tissues. There was a trend for a correlation between the extent of hard tissue retraction and the extent of soft tissue retraction, and we could not demonstrate that the relationship between hard and soft tissue retractions was different in PRS and controls.
Our results indicated that bone atrophy was most probably a primary process rather than a phenomenon secondary to soft tissue retraction. We have provided the first assessment of bone atrophy in PRS patients using Bayesian statistics.
Parry-Romberg syndrome associated with complete agenesis of the corpus callosum: An uncommon case report
2015, Revue Neurologique
Acquired neurocutaneous disorders
2015, Handbook of Clinical Neurology
Citation Excerpt :
It occurs within years after development of Parry–Romberg syndrome, and is characterized as sharp, stabbing or burning and often aggravated by touching the affected area or chewing, thus resembling trigeminal neuralgia (Drummond et al., 2006; Kumar et al., 2009; Viana et al., 2011). Unusual neurologic manifestations include Adie's tonic pupil (Aynaci et al., 2001), strokes (Menni et al., 1997; Tomizawa et al., 2014) and Rasmussen's encephalitis (Shah et al., 2003; Longo et al., 2011). Brainstem involvement characterized by monoplegic ataxia secondary to ipsilateral pontine involvement (Lee et al., 2015) and dysarthria, dysphagia, and oculomotor palsy due to pontomesencephalic involvement have been described (Sathornsumetee et al., 2005).
A variety of neurologic diseases have cutaneous manifestations. These may precede, coincide with, or follow the neurologic findings. An array of autoimmune, genetic, and environmental factors play a role in expression and severity of the neurologic burden in these conditions. This chapter emphasizes congenital and genetic disorders, but we also discuss the pathophysiology and manifestation of various acquired neurocutaneous disorders with an emphasis Behcet’s disease, dermatomyositis, Sjögren’s syndrome, systemic lupus erythematosus, scleroderma, Parry-Romberg syndrome and Degos disease.
Corneal findings in Parry-Romberg syndrome
2014, Canadian Journal of Ophthalmology

View all citing articles on Scopus

View full text

Parry-Romberg syndrome associated with Adie’s pupil and radiologic findings

Abstract

Introduction

Section snippets

Case report

Discussion

Am J Ophthalmol

Progressive facial hemiatrophy and epilepsyA common underlying dysgenetic mechanism

Neurology

Progressive hemifacial atrophy (Parry-Romberg disease)

J Ped Ophthalmol Strabismus

Progressive facial hemiatrophyMRI appearances

Dev Med Child Neurol

Parry-Romberg syndrome. Follow-up imaging during suppressive therapy

Neuroradiology

Central sympathetic dysregulation and immunological abnormalities in a case of progressive facial hemiatrophy (Parry-Romberg disease)

Clin Autonom Res