Orbital and Periorbital Dysmorphology in Untreated Pfeiffer Syndrome.

BACKGROUND: Visual impairment secondary to orbital and periorbital dysmorphology is frequent in Pfeiffer syndrome patients. The etiopathogenesis of this aberrancy, however, remains unclear. METHODS: Untreated Pfeiffer syndrome patients (n = 31) and normal control subjects (n = 43) were compared. Craniometric and volumetric analyses related to the orbital and periorbital anatomy were performed using Materialise (Leuven, Belgium) software. RESULTS: Overall, orbital cavity volume of Pfeiffer patients is reduced by 28 percent (p < 0.001), compared to normal, starting before 3 months of age (p = 0.004). Globe volume was diminished by 10 percent (p = 0.041) before 3 months of age, yet tended to catch up thereafter. However, the retrobulbar soft-tissue volume remained smaller beyond 1 year of age (17 percent, p = 0.003). Globe volume projection beyond the bony orbit increased in all observed ages (82 percent, p < 0.001). The volumes of sphenoid bone, maxilla, and mandible proportionately were restricted by 24 to 25 percent (p = 0.003 to 0.035) before 3 months of age. The volume of maxilla and mandible gradually approximate normal; however, the sphenoid bone volume in Pfeiffer patients remains less than normal (p = 0.002) into childhood. The anteroposterior length of both the zygoma and the maxilla was reduced by 14 percent (p < 0.001). Anterior positioning of the zygoma is less by 23 percent (p < 0.001) in Pfeiffer patients overall, with anterior positioning of maxilla reduced similarly by 23 percent (p < 0.001). CONCLUSIONS: Pfeiffer syndrome patients develop decreased retrobulbar soft-tissue and globe volume, along with a restricted orbital cavity volume in infancy. Significant hypoplasia of the sphenoid bone is associated with more severe central facial (maxilla) retrusion, compared to lateral facial structures (zygoma). CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, II.

Preoperative Ultrasound-Guided Percutaneous Embolization of Orbital Lymphaticovenous Malformations Using Onyx.

The treatment of orbital lymphaticovenous malformations (OLVMs) has evolved from simple surgical resection to a multimodal approach consisting of sclerosing agents, embolization, and resection depending on the specific components that compose the lesion. Here we present a representative case series of 5 nonconsecutive patients who underwent percutaneous embolization of OLVMs with the Onyx Liquid Embolic System (Medtronic, Dublin, Ireland) before surgical resection between 2019 and 2021. OLVMs are rare, benign, congenital lesions that grow with age and can become symptomatic and disabling. Treatment can be conservative or invasive; depending on the clinical presentation and characteristics of the lesions, treatment modalities can vary. Preoperative percutaneous embolization of OLVMs with the Onyx system is a promising technique, as demonstrated in this case series.

Severe chemosis and treatment following fronto-orbital advancement surgery for Crouzon syndrome: A case report.

RATIONALE: Crouzon syndrome is a craniofacial malformation caused by premature fusion of fibrous sutures in infants. It is one of the most common craniosynostosis syndromes, and surgery is the only effective treatment for correcting it. Postoperative complications such as encephalocele, infections, hematoma have been reported. We herein report a case of a 62-month-old boy with Crouzon syndrome who underwent fronto-orbital advancing osteotomy, cranial vault remolding, and extensive osteotomy and subsequently developed left proptosis and severe chemosis, these complications are rare and we believe it will be of use to clinicians, physicians, and researchers alike. PATIENT CONCERNS: The patient's skull had been malformed since birth, and he had been experiencing paroxysmal headaches coupled with vomiting for 4 months. Having never received prior treatment, he underwent fronto-orbital advancement at our clinic; afterward, left proptosis and severe chemosis occurred. DIAGNOSIS: The patient was diagnosed with Crouzon syndrome, and the complications included left proptosis and severe chemosis, confirmed by the clinical manifestations, physical examination, and computed tomography (CT). INTERVENTION: We carried out cranial vault remodeling and fronto-orbital advancement. We applied ophthalmic chlortetracycline ointment on the conjunctivae, elevated the patient's head, evacuated the hematoma, and carried out a left blepharorrhaphy. OUTCOMES: The proptosis and chemosis resolved with no recurrence. No other complications occurred during the follow-up period (12 months), and CT scans revealed that the hematoma had disappeared. The calvarial vault reshaping was satisfactorily performed, and the patient's vision was not impaired. LESSONS: Severe proptosis and chemosis are rare complications that can occur after fronto-orbital advancement for Crouzon syndrome. A detailed preoperative examination (including magnetic resonance imaging and CT) is essential for diagnosis. Complete hemostasis, evacuation of hematoma, and placement of a periorbital drainage tube during surgery all contribute to an effective treatment plan. An ophthalmic ointment should be administered, and the patient's head should be elevated during the procedure. Evacuation of retrobulbar epidural hematoma and blepharorrhaphy could also help relieve proptosis and chemosis. Our report describes 2 rare complications associated with the treatment for Crouzon syndrome, and we believe it will be of use to clinicians, physicians, and researchers alike.

Spotlight on the pediatric eye: a pictorial review of orbital anatomy and congenital orbital pathologies.

Orbital lesions in the pediatric population vary from adults in terms of their presentation, unique pathology, and imaging characteristics. The prompt and accurate diagnosis of these lesions is imperative to prevent serious consequences in terms of visual impairment and disfigurement. Along with dedicated ophthalmologic examination, imaging is instrumental in characterizing these lesions, both for accurate diagnosis and subsequent management. In our pictorial essay, we provide a basic review of orbital embryology, anatomy, and congenital orbital pathologies, with emphasis on radiological findings.

Neurofibromatose tipo 1 com acometimento do nervo infraorbital: relato de caso / Neurofibromatosis type 1 with infraorbital nerve involvement: a case report

A neurofibromatose tipo 1 é uma doença autossômica dominante rara, com manifestações clínicas diversas. Sua apresentação mais marcante é a presença de neurofibromas (tumores da bainha neural) cutâneos ou internos, que também podem ocorrer de forma esporádica, associados a outras manifestações sistêmicas, como manchas café com leite e lesões oculares. Por serem tumores da bainha de mielina, os neurofibromas podem acometer diversos nervos periféricos, incluindo nervos da face. Apresentamos o caso de um paciente de 1 ano, portador de neurofibromatose tipo 1, com neurofibroma em nervo infraorbital direito, com o acesso proposto para tratamento cirúrgico que fornecesse ampla visualização e acesso a lesão, sem comprometimento estético importante, permitindo preservação de partes moles e adequado crescimento facial.

Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disease with multiple clinical manifestations. Its most significant presentation is cutaneous or subcutaneous neurofibromas (myelin sheath tumors), which may be associated with other systemic manifestations such as caféau- lait spots and eye involvement. Neurofibromas can affect several peripheral nerves, including the facial nerves. This report presents a case of a 1-year-old patient with NF1 with right infraorbital nerve neurofibroma in which the proposed access for surgical treatment allowed adequate visualization of the tumor with good aesthetic results, preservation of the soft tissues, and normal facial growth.

What remains of non-syndromic bicoronal synostosis?

More and more genetic syndromes are associated with bicoronal synostosis (BCS), making non-syndromic BCS (NSBCS) a shrinking entity. However, the numerical importance and clinical impact of syndromic BCS (SBCS) versus NSBCS have not been much studied. We retrospectively reviewed our experience with BCS over the last four decades in order to compare prevalence trends in SBCS and NSBCS. 195 patients were treated for BCS during the period 1978-2017: 104 (53.3%) were syndromic, 24 (12.3%) showed clinical and/or familial features suggesting a syndrome, although without final diagnostic confirmation, and 7 (3.5%) had associated extra-cranial malformations suggesting a syndromic context without identified genetic mutation; the remaining 61 (31.3%) were purely NSBCS. Surgery was required earlier in SBCS (21.7months, 95%CI 18.4-25.1) than in NSBCS (29.5months 95%CI 26.4-32.7). Prevalence of hydrocephalus and tonsillar herniation was significantly lower in NSBCS, and mortality concerned only SBCS. Prevalence of NSBC decreased significantly over the study period, likely because of more accurate testing, and decreased slightly over the last decade, possibly because of prenatal testing and abortion. NSBCS is now much less common than SBCS, and has a less aggressive clinical course, with lower rates of hydrocephalus, tonsillar herniation and mortality. This subgroup also deserves attention because it is likely that new discoveries are still to be made.

Retalho interpolado de sulco nasogeniano em único estágio para reconstrução de defeitos nasais e de canto interno da órbita / Single-stage nasolabial interpolation flap for reconstructing defects of the nose and inner corner of the eye

Introdução: Os retalhos interpolados são opções cirúrgicas eficazes para reconstruções de defeitos cutâneos em várias áreas do corpo, inclusive na face. O retalho proposto dispensa cuidados pós-operatórios com o pedículo exposto e pode ser realizado em tempo único. O objetivo é avaliar a utilidade do retalho interpolado de sulco nasogeniano (RISN) em ilha, na reconstrução de segmentos nasais e do canto interno da órbita, bem como discutir refinamentos em seu design e execução. Métodos: Estudo retrospectivo de prontuários de pacientes com defeitos nasais ou de canto interno da órbita, e que foram reparados com retalho interpolado do sulco nasogeniano. Todos os retalhos foram confeccionados de maneira randômica, realizando-se túnel subcutâneo para evitar pedículo exposto e cicatriz que comunicasse a área doadora e o defeito. Resultados: cinco pacientes foram incluídos no estudo, com idade entre 30 e 92 anos. Em todos os casos foi realizada biópsia de congelação intraoperatória que revelou margens livres de doença, orientando a extensão da ressecção. O CBC foi encontrado em 4 pacientes e o CEC em um paciente. Não houve complicações como sangramento pós-operatório ou necrose. Bons resultados funcionais e estéticos foram alcançados em todos os pacientes. Discussão: Vale ressaltar a versatilidade do retalho nasogeniano interpolado, sendo capaz de auxiliar na reconstrução de defeitos extensos não apenas de asa, ponta e columela nasais, mas também de dorso e canto medial do olho. Destaca-se também o aspecto estético mais favorável do pedículo do retalho interpolado em ilha comparado ao de transposição. Conclusão: O RISN interpolado em único estágio é uma opção confiável na reconstrução de segmentos faciais. Apresenta boa vascularização, possibilidade se ser realizado em único tempo e pode ser utilizado para cobertura nos locais onde há poucas opções reconstrutivas disponíveis.

Introduction: Interpolation flaps are effective surgical options for reconstructing skin defects in various areas of the body, including the face. The proposed flap does not require postoperative care with the pedicle exposed and can be performed in a single surgery. The objective is to evaluate the usefulness of the nasolabial interpolation island flap (NIF) for reconstructing nasal segments and the inner corner of the eye, as well as discuss improvements in its design and performance. Methods: In this retrospective study, medical records of patients with nasal defects that were repaired with a nasolabial interpolation flap were reviewed. All flaps were created with a subcutaneous tunnel to avoid pedicle exposure and prevent scar connection with the donor area and the defect. Results: Five patients aged 30­92 years were included. In all cases, intraoperative frozen biopsy revealed disease-free margins, indicating the extent of the resection. Basal cell carcinoma was found in four patients and squamous cell carcinoma in one. There were no complications such as postoperative bleeding or necrosis. Good functional and aesthetic results were achieved. Discussion: The NIF can help in the reconstruction of extensive defects of the nasal ala, tip, columella, and medial dorsum as well as the corner of the eye. We also highlight the more favorable aesthetic aspect of the pedicle in the interpolation island versus transposition flap. Conclusion: The single-stage NIF flap is a reliable option for reconstructing facial segments as it has good vascularization, can be performed in a single surgery, and can be used to cover places where few other reconstructive options are available.

Postoperative Changes in Orbital Dysmorphology in Patients With Unicoronal Synostosis.

Orbital asymmetry in unicoronal synostosis impacts craniofacial appearance and can potentiate functional visual disturbances, such as strabismus. Surgical treatment aims to normalize overall cranial morphology, including that of the orbits. The purpose of this study was to compare postoperative changes in orbital asymmetry following 2 common procedures.Preoperative and 1-year postoperative computed tomography scans for patients with isolated, nonsyndromic unicoronal synostosis treated from 2007 to 2012, at 2 academic institutions were analyzed. Only patients treated by endoscopic suturectomy and postoperative helmeting or bilateral fronto-orbital advancement were included. Orbital index, depth, and volume asymmetry were determined for each patient both pre- and 1-year postoperatively. Student's t-tests were used to compare pre- and postoperative asymmetries within each treatment group. Regression analyses were used to examine postoperative change in asymmetry between treatment groups.Scans from 12 patients treated by fronto-orbital advancement and 23 treated by endoscopic suturectomy were analyzed. Differences between synostotic and nonsynostotic orbital index, depth, and volume were statistically significant both pre- and postoperatively. Statistically significant postoperative improvements in asymmetry were observed for orbital index, depth, and volume following suturectomy. Regression analysis indicated that the amount of pre- to postoperative change in all measures of asymmetry did not depend on surgical technique. Residual asymmetry following both procedures was apparent at 1 year postoperatively.Orbital asymmetry is improved, but not resolved following both fronto-orbital advancement and endoscopic suturectomy. Degree of improvement in symmetry is independent of surgical technique used.

Orbital Arteriovenous Fistula around the Optic Nerve Treated by Transvenous Embolization.

Intraorbital arteriovenous fistula (AVF) is a very rare disease; therefore an optimal treatment strategy has not yet been established. Here we describe the use of high-resolution cone-beam computed tomography (CBCT) and selective angiography to visualize the detailed anatomy of orbital vessels. The information provided by the intraoperative imaging led to a change in treatment strategy and eventually to successful transvenous coil embolization. A 55-year-old man presented with a 4 months history of right exophthalmos, chemosis and diplopia. Magnetic resonance (MR) imaging demonstrated a dilated superior orbital vein. Cerebral angiography showed an intraorbital AVF fed by the branch of the ophthalmic artery and drainage to the superior orbital vein (SOV) and inferior orbital vein (IOV). Superselective angiography and high-resolution CBCT with diluted contrast medium clarified that feeders of the AVF came from the first segment of the ophthalmic artery, and the shunt located surrounding an optic nerve sheath. Transvenous embolization via IOV with coils occluded the AVF. Detailed analysis of intraorbital vessels using high-resolution CBCT and selective angiography led to successful treatment by transvenous coil embolization.

Innovative Surgical Treatment of Severe Cherubism.

BACKGROUND: Cherubism is an autosomal dominant syndrome characterized by excessive bilateral maxillomandibular bony degeneration and fibrous tissue hyperplasia. Conservative management is the preferred treatment as cherubism has a self-limiting course. Functional or emotional disturbances may, however, demand surgical intervention. We report a patient who underwent surgical intervention. METHOD/DESCRIPTION: He had significant enlargement of lower cheeks and bilateral lower lid scleral show. On computed tomography of the face, the patient had significant fibrous tissue involving bilateral maxilla and mandible. The mandibular tumor was excised. Given normal inferior border, bilateral sagittal split osteotomy was performed to infracture and inset the outer cortex. During the procedure, patient required blood transfusion intraoperatively, so the maxillary portion of the procedure was delayed until 6 months later. For the maxilla, bilateral transconjunctival approach was used to resect parts of the orbital floors that were concave, resulting in 1 × 2 cm defects bilaterally which were reconstructed using resorbable plates. Then the anterior maxillary tumor was excised. RESULTS: The patient and his parents were satisfied with his appearance after surgery. The patient was noted to have improvement in contour and decreased scleral show. He has most recently followed up 15 months after the initial surgery. There were no long-term complications. CONCLUSIONS: Severity of cherubism influences the type of surgical intervention. The present case is innovative because this is the first reported case of recontouring orbital floors with resorbable plates and infracturing of the mandible using sagittal split osteotomies for surgical treatment of cherubism.

Multilobular dermoid cyst of the orbit.

Dermoid cysts are histologically defined as surface epithelium encapsulating an inner lumen. They are well described in the literature as discrete, single masses, either circumscribed or dumbbell-shaped, with or without a longstanding fistula. Chronic granulomatous inflammation is often a feature of dermoid cysts, contributing to local soft tissue and bony destruction. Isolated multicystic dermoids are not well described. We present a case of a multilobular dermoid characterized both radiographically and histopathologically. These findings may be attributed to repeated rupture and reformation of the dermoid cyst. When possible, our experience favours early excision of orbital dermoid cysts to minimize morbidity.

Orbit, zygoma, and maxilla growth patterns in Crouzon syndrome.

The facial malformations of Crouzon syndrome involve the entire cranio-orbito-zygomatic region. The detailed sequence of changes in orbit, zygoma, and maxilla over time, the mutual influence among these three anatomical structures, and their relationship with the cranial base were studied to determine the sequence and timing of deformity. Preoperative CT scans of 36 patients with Crouzon syndrome (mean age 10.84±14.70years; 14 male, 22 female) and CT scans of 54 control subjects (mean age 8.53±13.22years; 29 male, 25 female) were divided into five subgroups by age: 0-6 months, 6 months-2 years, 2-6 years, 6-18 years, and 18-62 years. Craniofacial morphometric cephalometrics were analyzed using Materialise software. Crouzon orbit anteroposterior length was shorter before 6 months (P=0.021) and remained shorter into adulthood (P<0.001). Globe projection was greater across all age subgroups (P<0.001), reaching a peak at 6 months to 2 years (P<0.001). The increased medial orbital width was the most remarkable and persistent secondary deformity (P<0.001). The zygoma anterior protrusion was retruded before 6 months of age (P<0.001), but then improved gradually. The width of maxilla was greater by 24% in the Crouzon cohort (P<0.001), with a difference of 16% before 6 months (P=0.024), and was developed earlier than the shortened anteroposterior length. Crouzon high and shallow orbital walls are distinctive. Maxillary widening developed before the malformation of sphenoid. The anteroposterior position of zygoma is likely a principal deformity, rather than a reflection of the intrinsic shape of the bone. Level of Evidence: II.

Cerebral Venous Thrombosis: An Uncommon Cause of Papilledema on Bedside Ocular Ultrasound.

BACKGROUND: Cerebral venous thrombosis (CVT) is a rare, difficult-to-diagnose form of venous thromboembolic disease and is considered a type of stroke. Its presentation is highly variable and may be easily confused for more common and less debilitating or life-threatening diagnoses such as migraine, seizure, or idiopathic intracranial hypertension. CASE REPORT: A 25-year-old woman presented with a complaint of bifrontal throbbing headache and blurry vision. A bedside ultrasound of the orbit suggested increased intracranial pressure. A subsequent computed tomography venogram demonstrated a left transverse sinus thrombosis. The patient was started on enoxaparin and admitted for bridging to warfarin and evaluation for hypercoagulable state. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: CVT is a rare form of stroke that carries a high rate of mortality and morbidity and masquerades as more common and benign diagnoses. Emergency department bedside ultrasound of the orbit may make the diagnosis of CVT more attainable by identifying patients with increased intracranial pressure.

Correcting Exorbitism by Monobloc Frontofacial Advancement in Crouzon-Pfeiffer Syndrome: An Age-Specific, Time-Related, Controlled Study.

BACKGROUND: In FGFR2 craniosynostosis, midfacial hypoplasia features oculo-orbital disproportion and symptomatic exorbitism. Clinical consequences may mandate surgery at a young age to prevent globe subluxation, corneal ulceration, and potential loss of vision. Monobloc osteotomy and distraction osteogenesis (monobloc distraction) seek to correct exorbitism. A report of the age-related impact of monobloc osteotomy and distraction osteogenesis on orbital volume, globe volume, and globe protrusion is presented. METHODS: Computed tomographic scan data from 28 Crouzon-Pfeiffer patients were assessed at preoperative, early postoperative, and 1-year follow-up time points. Orbital volumes, globe volumes, and globe protrusions were measured by manual and semiautomatic segmentation techniques, and these were compared to 40 age-matched controls. RESULTS: Crouzon-Pfeiffer syndrome orbital volumes are significantly small, and are significantly overexpanded by distraction to endpoints correcting symptomatic exorbitism. Globe volumes are significantly larger than controls under 5 years, do not independently correlate with globe protrusion, and are unaffected by surgery. Correlation between orbital volume expansion and reduction of globe protrusion is not significant. Age-related variations of postoperative growth potential occur to 1 year postoperatively. The Crouzon-Pfeiffer syndrome FGFR2 orbit exhibits early growth acceleration followed by premature growth arrest at 10 to 14 years. CONCLUSIONS: Orbital volume expansion by monobloc osteotomy and distraction osteogenesis is not the sole determinant of reduced globe protrusion. Mean volume relapse of the orbit at 1 year is insignificant across the series. Derived Crouzon-Pfeiffer growth curves suggest that "early functional monobloc" in infants occurs on a background of dynamic orbital growth, which remains programmed to a Crouzon-Pfeiffer FGFR2 phenotype and aligns with the incidence of delayed clinical regression and later secondary surgery. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

Combination of skin flap and silicone prosthesis for rehabilitation of a large orbital defect: A case report.

Exenteration surgery greatly affects a person in terms of function, esthetics, and psychological trauma. In such cases, restoration by silicone orbital prosthesis is a well-accepted treatment option. However, this is a difficult task, necessitating personalized design of method for each patient. This case report describes the technique for fabrication of a silicone orbital prosthesis for a male patient with left orbital defect due to exenteration of a Grade 3 squamous cell carcinoma of the left eye and surrounding tissues. The patient was delivered with a satisfactory silicone orbital prosthesis having good retention and finish. Multidisciplinary management and team approach are crucial in providing precise and effective rehabilitation for improving the patient's quality of life and help them return to their normal social life.

Anterior convex lateral orbital wall: distinctive morphology in Apert syndrome.

Bony malformations of the orbit and alterations to the soft tissue in Apert syndrome contribute to ophthalmic dysfunction. Recognised structural malformation of the sphenoid and ethmoid sinuses, together with corresponding deformities in the anterior and middle cranial base, are characteristic. Our aim was to explore the underlying structural components of disfigurement and the consequent development of the orbit in patients with Apert syndrome over time by studying 18 preoperative computed tomographic (CT) scans of affected patients and 36 scans from controls. Cephalometric measurements related to the orbit were collected, and analysed with Materialise software. The patients with Apert syndrome had larger than normal external orbital horizontal angles between the ages of 6 months and 2 years. The inside horizontal angle was narrower at 16.36° before 6 months, and continued to decrease into adulthood. The ethmoid and sphenoid side angles in affected patients consistently increased, starting at 7.93% and 14.68% of the external horizontal angle, respectively, during the first 6 months of age, and becoming 20.55% and 11.69%, respectively, in adulthood. In unaffected patients, both angles were less than 3% of the external horizontal angle overall. The orbital vertical angle also changed synchronously, with increasingly wide lateral orbits and shortened anteroposterior orbits. The anterior protrusion of the lateral orbital wall resulted from superior and posterior rotation of a curved, greater wing of the sphenoid, while the widened median orbital wall was caused by the widened ethmoid sinus. These resulted in bony deformities of the orbit, which predisposed to the visual impairments of Apert syndrome.