Magnetic resonance imaging findings in children with Parry-Romberg syndrome and en coup de sabre.

BACKGROUND: The aim of this study was to: (i) describe the abnormalities seen on brain imaging in a group of children with en coup de sabre (EDCS) with/without Parry-Romberg syndrome (PRS); and (ii) identify clinical predictors of brain imaging abnormalities. METHODS: This was a single centre (Great Ormond Street Hospital, London) retrospective case series of patients with ECDS/PRS seen from 2000 to 2018. We identified patients with cutaneous manifestations consistent with the clinical descriptions of ECDS/PRS. Presenting clinical, laboratory, and radiological brain findings are described. Results are expressed as medians and ranges or frequencies and percentages. Fisher's exact test was used to identify clinical associations with magnetic resonance imaging (MRI) abnormalities. RESULTS: Fourteen patients were studied: 6 males and 8 females; median age 14 years (range 3-20). We observed neuroimaging abnormalities in 2/6 ECDS and 5/8 ECDS/PRS patients. White matter signal abnormality, dystrophic calcification, leptomeningeal enhancement, and sulcal crowding were the typical findings on brain imaging. A total of 50% of patients had no MRI abnormality despite some of these patients having neurological symptoms. The presence of seizures was significantly associated with ipsilateral enhanced white matter signalling on MRI (p < 0.05). CONCLUSIONS: In summary, we observed several distinct radiographic patterns associated with ECDS/PRS. Seizure disorder was strongly associated with the presence of ipsilateral enhanced white matter signalling. Improved neuroimaging techniques that combine morphological with functional imaging may improve the detection rate of brain involvement in children with ECDS/PRS in the future.

Comparative Study of Three-Dimensional Volume Measurement for Facial Fat Grafting.

ABSTRACT: The three-dimensional (3D) volume measurement after facial fat grafting is of great significance to plastic surgeons. It has been ascertained that reliable results rely on the accurate measurement of 3D softwares. Some 3D softwares in literatures have proposed various ways to optimize each step of the procedure, including the pre- and post-operative image acquisition, alignment, calculation, and analysis. Good image alignment between pre- and post-scan is essential to quantify the volumetric change. Once the pre- and post-operative image alignment has slightly bias or deviation, the subsequent volume measurement would also be affected. To our knowledge, 2 types of 3D software have been widely applied in clinic, primarily based on the image-automatically alignment and image-manually alignment. This study aimed to compare the accuracy, repeatability, and reproducibility of the Geomagic Qualify 12.0 software and the 3-Matic 7.0 software in a relatively ideal model of virtual facial fat grafting. A simulated facial fat grafting was first performed for 10 preoperative patients diagnosed with progressive hemifacial atrophy, and the known volumetric change was named as the true value (T value). Then, the facial volumetric change of every case was remeasured 10 times with above 2 kinds of software separately. The mean volumetric change was calculated as Q value and M value. The paired t test, intraclass correlation coefficient, and Bland-Altman analysis showed that the Geomagic Qualify 12.0 software demonstrated a statistically higher accuracy, repeatability, and reproducibility in comparison with the 3-Matic 7.0 software.

Unilateral Neuroimaging Findings in Pediatric Craniofacial Scleroderma: Parry-Romberg Syndrome and En Coup de Sabre.

OBJECTIVE: Parry-Romberg syndrome (PRS) and en coup de sabre (ECDS) are subtypes of craniofacial localized scleroderma. Systematic analyses of central nervous system imaging findings and their clinical associations in children are lacking. Here, we aim to characterize neuroimaging findings and associated neurological symptoms in these conditions. METHODS: Neuroimaging and neurological symptoms of children evaluated at our institution with a diagnosis of PRS or ECDS were retrospectively reviewed. Laterality, location, stability, and number of lesion(s) were evaluated, as was the presence of susceptibility lesion(s) and contrast enhancement. History of seizures or headaches was noted. RESULTS: From 2003 to 2019, 80 patients with PRS or ECDS were followed at our institution. Neuroimaging was completed in 73 and found to be abnormal in 25. In 12 (48%) of these 25 cases, headaches and/or seizures were present. In the vast majority of these cases (22/25, 88%), lesions were ipsilateral to skin findings. White matter was involved in 19 (76%) patients. MRI abnormalities preceded a rheumatological diagnosis in 7 (28%). Susceptibility lesions were noted in 11 (44%), and 8 (73%) of these patients endorsed a history of headaches. Most lesions were in the supratentorial compartment, did not enhance, and were stable at 1-year follow up imaging. Of those with progression, susceptibility findings were present at baseline. CONCLUSIONS: Neuroimaging findings in pediatric PRS and ECDS are often supratentorial, stable, unilateral, and ipsilateral to skin findings, and they can precede cutaneous findings.

Parry Romberg syndrome: Imaging features in 4 consecutive cases and review of literature.

Parry Romberg syndrome (PRS) is a distinct sporadic self-limiting entity comprising progressive hemi- atrophy of the face with predisposition to affect the skin, subcutaneous tissue and in some cases deeper extension to the cartilage, osseous structures and musculature (Wong et al., 2015; Aydin et al., 2015; Sharma et al., 2012) [1-3]. Neurologic and ocular involvement is variable as is the progression of this entity. With a multitude of aetiologies ranging from autoimmune to infectious this syndrome is a diagnosis of exclusion, with a highly variable prognosis, drawing the amusement of radiologists and clinicians. Radiological assessment and subsequent diagnosis of this entity can aid in alleviating the lifestyle hampering progression of this disease process. We hereby report 4 cases of this syndrome and aim to describe the varied radiological presentations of this entity with concise review of literature.

Parry-Romberg Syndrome With Hemimasticatory Spasm: A Rare Combination.

Parry-Romberg syndrome is a rare craniofacial disorder characterized by progressive hemifacial atrophy with systematic manifestations. The combination with hemimasticatory spasm is rare, with only 9 patients reported before. In this study, a study of a young male patient with Parry-Romberg syndrome and hemimasticatory spasm on his left side was presented. Radiologic examinations showed severe atrophy limited to subcutaneous tissue and electromyography demonstrated as hemimasticatory spasm. Injection of botulinum toxin type A was applied for the treatment of hemimasticatory spasm and after 2 separated injections, the patient was significantly relieved from symptom. The theory of focal demyelination of the trigeminal nerve peripheral brunches is the possible link between hemifacial atrophy and hemimasticatory spasm, although the pathogenesis of both diseases requires further study and current therapeutic methods are still limited to symptomatic treatments. Injection of botulinum toxin type A is an effective way to treat hemimasticatory spasm and autologous fat transplant is a promising solution to correct facial asymmetry.

A case of overlapping adult-onset linear scleroderma and Parry-Romberg syndrome presenting with widespread ipsilateral neurogenic involvement.

Linear scleroderma is a variant of localized scleroderma. We report a 43-year-old woman who had developed left arm weakness and linear scleroderma on her back during pregnancy at 25 years of age, followed by left hemifacial atrophy and left leg weakness. She had multiple linear scleroderma lesions on her trunk and left limbs, left eyelid ptosis, impairment of vertical movement and abduction of the left eye, left hemifacial atrophy, and weakness and atrophy of the sternocleidomastoid, trapezius, and proximal limb muscles on the left side. On serology, antibodies to U1-ribonucleoprotein and Jo-1 were positive; anti-scleroderma-70 antibody was negative. Skin biopsy demonstrated increased hypertrophic collagen fibers without inflammatory infiltrates. Needle electromyography of left limb muscles revealed mild neurogenic patterns; left quadriceps muscle biopsy showed chronic neurogenic changes. Brain magnetic resonance imaging revealed mild left hemispheric atrophy. This is a rare case of linear scleroderma and Parry-Romberg syndrome presenting with widespread ipsilateral neurogenic manifestations.

Parry Romberg Syndrome: A Unique Clinico-radiological Entity.

Parry Romberg syndrome (PRS) is an unusual neurological entity characterized by progressive hemifacial atrophy. We describe the case of a 17-year-old male who presented with recurrent seizures and facial asymmetry of 1 year duration. Computed tomography (CT) of the head showed right-sided hemifacial atrophy involving the subcutaneous fat, muscles, and bones alongwith subcortical white matter hypodensity, having parenchymal foci of calcification. The etiology of PRS is debated from being secondary to abnormalities in fat metabolism to autoimmune and inflammatory causes. The treatment is symptomatic and is targeted at relief of seizures and migraine. Steroids and other immunomodulators have proven successful in some cases. Surgical correction may be done once the disease stabilizes.

Parry-Romberg syndrome in Kuwait. Neurological manifestations in 2 children.

Parry-Romberg syndrome is a rare disorder with progressive hemifacial atrophy of unknown etiology. We reported 2 cases of progressive hemifacial atrophy with different neurological manifestations from Kuwait. The first case was a 14-year-old boy who initially presented with recurrent transient stroke-like episodes followed by focal seizures and hemifacial atrophy. Magnetic resonance imaging showed significant white matter changes and cerebral hemiatrophy. The second case was a 7-year-old girl who presented with complex partial seizures and hemifacial atrophy, her magnetic resonance imaging scan showed minimal changes in the hemiatrophy of the temporal cerebral lobe. Both patients' disease activity was well controlled with immunosuppressive therapy and anticonvulsants. Parry-Romberg syndrome should be considered in any child with unexplained neurological symptoms.

Facial Contour Symmetry Outcomes after Site-Specific Facial Fat Compartment Augmentation with Fat Grafting in Facial Deformities.

BACKGROUND: The purposes of this study were to evaluate facial symmetry after the first fat grafting session in patients with unilateral facial contour deformities and to identify independent predictors of 12-month postoperative facial symmetry. METHODS: A prospective analysis was conducted of consecutive patients (n = 167) that underwent fat grafting to restore facial contour symmetry. Computerized photogrammetric facial symmetry analyses were performed. Bivariate and multivariate analyses were executed to identify independent predictors of 12-month postoperative facial symmetry. RESULTS: There were significant (all p < 0.05) postoperative facial symmetry enhancements (preoperative less than postoperative) after facial fat grafting. The facial symmetry was maintained (all p > 0.05) from 3 to 12 months postoperatively, with a 12-month facial symmetry of 91.2 ± 6.9 percent (ranging from 79.8 to 99.3 percent). Sixty-six complementary facial fat grafts (39.5 percent) were performed for residual asymmetry. Age, Parry-Romberg syndrome, previous facial bone surgery at the site that received fat grafting, and injected volume were independently negative (all p < 0.05) predictors of 12-month postoperative facial symmetry. CONCLUSION: A significant improvement of facial contour symmetry was obtained after the first facial fat grafting session, but a subset of patients required complementary fat graft procedures for residual asymmetry, with age, Parry-Romberg syndrome, previous bone surgery, and injected volume affecting postoperative facial contour symmetry. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, III.

The central nervous system manifestations of localized craniofacial scleroderma: a study of 10 cases and literature review.

BACKGROUND: Localized craniofacial scleroderma is a rare pediatric disease that involves a spectrum of discoloration, fibrosis and hemiatrophy of the face and scalp. Children with localized craniofacial scleroderma may have neurological symptoms, and in this context often undergo diagnostic imaging of the brain. OBJECTIVE: To catalogue neuroimaging abnormalities in patients with localized craniofacial scleroderma treated at our institution, review their clinical courses and compare this data with prior studies. MATERIALS AND METHODS: Following Institutional Review Board approval, an imaging database search identified 10 patients with localized craniofacial scleroderma and neuroimaging abnormalities treated at our institution. Neuroimaging exams and the electronic medical record were reviewed for each case. RESULTS: The most common indications for neuroimaging were headache or seizure (80% of cases). The most common neuroimaging abnormalities were T2-hyperintense, subcortical white matter lesions ipsilateral to the cutaneous lesion (90% of cases) on magnetic resonance imaging (MRI). Calcifications or blood products (50%), cysts (40%) and abnormal enhancement (20%) were also observed. A positron emission tomography (PET) scan obtained for a single case demonstrated diminished 18F-fluorodeoxyglucose (FDG) avidity corresponding to the dominant focus of signal abnormality on MRI. Progressive neuroimaging abnormalities were present in 30% of cases. There was no consistent relationship between changes in neurological symptoms following treatment and neuroimaging findings. CONCLUSION: Our results are similar to previously published data. In the absence of new or worsening neurological symptoms, the role of neuroimaging for follow-up of localized craniofacial scleroderma is unclear. Knowledge of intracranial neuroimaging abnormalities that are commonly associated with localized craniofacial scleroderma helps to distinguish these lesions from others that have similar appearance.

Three-Dimensional Stereophotogrammetric Evaluation of the Efficacy of Autologous Fat Grafting in the Treatment of Parry-Romberg Syndrome.

Autologous fat grafting is a surgical procedure used to correct volumetric defects, atrophies, and sclerosis. Three-dimensional (3D) facial photography may enable researchers to quantify the success of surgical procedures through volumetric and surface assessments. Using 3D photography, the authors assessed the results of autologous fat grafting performed in a 15-year-old patient affected by Parry-Romberg syndrome, a rare condition resulting in progressive hemifacial atrophy of skin, subcutaneous tissues and, ultimately, bone. Stereophotogrammetric acquisitions were performed before and 4 months after the surgical intervention. The obtained results were objectively assessed in terms of facial symmetry through calculation of root mean square deviation point-to-point distance between the treated and healthy side, and volume modifications between pre- and postsurgical 3D facial scans. Four months after surgery, 73% of injected adipose tissue was resorbed, whereas facial symmetry increased up to 63%. The proposed method is not invasive and provides quantitative information about the surgical and esthetic outcomes. Clinicians could better plan surgery, and the patients could be more motivated and compliant to the treatment.

Parry-Romberg syndrome: conventional and advanced MRI follow-up in a boy.

We studied a 9-year-old boy, affected with the Parry-Romberg syndrome, during a period of 32 months, by means of clinical evaluations and neuroradiological magnetic resonance imaging. Over this time we observed a clinical progression of the cutaneous disease without a simultaneous progression of the neurological alterations. Conventional and advanced magnetic resonance imaging techniques showed white matter alterations which proved to be stable during the follow-up.

Brain Glucose Metabolism in Parry-Romberg Syndrome.

Parry-Romberg syndrome is a rare disorder characterized by a progressive facial hemiatrophy of the skin, subcutaneous tissue, musculature, bone, and cartilage. It is often associated with neurological symptoms such as trigeminal neuropathy, paresthesia of the face, migraine, and seizures and can be paired with ocular problems and ipsilateral progressive body atrophy. Here, we present a young woman with progressive facial hemiatrophy, who was referred for FDG-PET/CT. Hypometabolism was observed in the left cingulate and postcentral gyrus, left cerebellum, and right basal ganglia. Hypometabolism may be observed before anatomical changes and therefore facilitate early diagnosis.

Surgical Management of Progressive Hemifacial Atrophy With De-Epithelialized Profunda Artery Perforator Flap: A Case Report.

Progressive hemifacial atrophy (PHA) is a rare disorder characterized by slow, unilateral atrophy of the soft tissues and bones of the craniofacial region. The defect becomes more pronounced with age, leading to esthetic and functional deficits. However, the proper timing and method of surgical reconstruction are still debated. The correction of this defect markedly influencing the quality of life of the patient can be achieved with less invasive to more invasive surgical approaches. A 21-year-old female patient with hemifacial atrophy and extensive alopecia presented to our clinic. Considering the body type and the expectations of the patient, a profunda artery perforator flap was applied for the reconstruction and esthetic improvement of the facial region. The facial asymmetry attenuated after the reconvalescence period. This case shows that in the up-to-date surgical treatment of severe PHA, the use of microvascular free flaps may provide a better approach when trying to achieve an acceptable esthetic result. This is the first time that a profunda artery perforator flap was used to restore facial asymmetry caused by PHA.