pediatric proptosis

UNLABELLED: Orbital rhabdomyosarcoma (RMS) is a highly malignant, mesenchymal orbital tumor of childhood with a predilection in children less than 20 years of age. It presents as a space-occupying lesion in the orbit, most commonly over the superior nasal quadrant of the orbit. The patient usually presents with rapid onset unilateral proptosis and eyelid edema. CASE PPRESENTATION: In this article, a 14-year-old male presented with rapidly progressive swelling of the right orbit...

In this paper, we aim to study the different clinical presentations of pediatric allergic fungal sinusitis (AFS) in the Eastern Province of Saudi Arabia, and to review the experience in the diagnosis & management of AFS in children at King Fahad Specialist Hospital. This study is a retrospective case series of pediatric patients diagnosed and managed as AFS at a tertiary referral hospital in Saudi Arabia. The clinical presentation of pediatric AFS varies widely and includes unilateral, unilateral with proptosis, bilateral, alternating, isolated sphenoid and extensive with intracranial & intraorbital involvements...

We report a nine-year-old male having malignant peripheral nerve sheath tumor (MPNST) of the frontal bone, represented with a twelve-month history of ptosis and proptosis in his right eye and enlarged rapidly in the last three months. Except for slight numbness at his one-third of the right forehead, he had no neurological deficit. The patient's both eyes were having normal eye movements, and he had no visual acuity or field loss. After surgery, we observed the patient with no recurrence for 4 years.

Pediatric coronavirus disease 2019 (COVID-19) has been associated with various complications including chronic respiratory disease and multisystem inflammatory syndrome. There are a few reported cases of complicated sinusitis following pediatric COVID-19 infection. We present a patient with recent COVID-19 who developed complicated sinusitis with intracranial extension and Lemierre syndrome. A 16-year-old female with a history of COVID-19 diagnosis 17 days prior presented with worsening head and neck symptoms...

PURPOSE: The authors aim to describe the ophthalmologic manifestations of pediatric Erdheim-Chester disease (ECD). METHODS: The authors describe a novel case of ECD presenting as isolated bilateral proptosis in a child and provide a comprehensive review of the documented pediatric cases to observe overall trends and ophthalmic manifestations of disease. Twenty pediatric cases were identified in the literature. RESULTS: The mean age at presentation was 9...

BACKGROUND: Shashi-Pena syndrome (SHAPNS) is a developmental disorder caused by mutations in additional sex combs-like Protein 2 ( ASXL2 ). Since 2016, only 12 cases from 10 families have been reported. However, neonatal period characteristics remain largely unknown. Herein, we report a case with a pathogenic variant in ASXL2 in a newborn. CASE DESCRIPTION: A newborn was diagnosed with a previously unreported de novo truncating mutation in ASXL2 (NM_018263.6) at 21 days and the clinical characteristics of all probands with ASXL2-related SHAPNS was reported in the literature...

Objective: To review the clinical characteristics, to illustrate diagnosis and management experience of orbital and cranial complications of pediatric acute rhinosinusitis. Methods: The clinical data of 24 children with orbital and cranial complications of acute rhinosinusitis who received endoscopic sinus surgery combined with drug treatment in Beijing Children's Hospital from January 2017 to December 2021 were retrospectively reviewed. There were 19 boys and 5 girls. The age varied from 13 to 159 months, with a median 47...

A mucocele is a slowly progressive cystic lesion of paranasal sinuses secondary to obstruction of the sinus ostium. It is an extremely rare condition in the pediatrics age group. The symptoms usually result from lesion expansion, inflammation, or compression of the adjacent structures. We report a case of an 11-year-old boy who presented with a right-side ethmoid mucocele with no known etiology and no history of cystic fibrosis. The patient underwent endoscopic sinus surgery for mucocele excision and abscess drainage...

PURPOSE: Orbital cellulitis is a serious condition with potentially severe complications. Treatment requires interdisciplinary care and early introduction of antimicrobial therapy. In our tertiary center, a team of pediatricians, pediatric ophthalmologists, and otorhinolaryngologists successfully participated in the management of pediatric periorbital/orbital cellulitis. This study aimed to demonstrate our interdisciplinary approach and to investigate clinical profile and management of pediatric periorbital/orbital cellulitis...

No abstract text is available yet for this article.

Thyroid eye disease (TED), an autoimmune inflammatory disorder of the orbit, presents with a potential array of clinical sequelae. The pathophysiology behind TED has been partially characterized in the literature. There remain certain elusive mechanisms welcoming of research advances. Disease presentation can vary, but those that follow a characteristic course start mild and increase in severity before plateauing into an inactive phase. Diagnosis and evaluation include careful physical examination, targeted laboratory work up, appropriate imaging studies, and tailored treatment regimens...

Thyroid eye disease (TED) characterizes by inflammation and remodeling of orbital tissues. Although the majority of pediatric TED is mild, some children present progressive and severe disease. The approach to severe disease in this group of patients, especially when noncortico-responsive, is challenging. The purpose of this work was to describe the effective use of tocilizumab as second-line therapy in steroid-resistant pediatric TED. A 13-year-old female with a history of Graves' disease presented with right eye proptosis for at least 8 months associated with mild pain on eye movements and ocular surface complaints...

Patients presenting with craniofacial conditions present a unique challenge from an ophthalmological view point. There are no set guidelines as to their management or their long-term monitoring and follow-up. Largely, this should be the remit of a dedicated craniofacial team. Here we present pertinent ophthalmological pathology occurring in combination with craniosynostosis alongside the protocol employed in Birmingham Children's Hospital for the management of these patients.

PURPOSE: Aneurysmal bone cyst (ABC) of the orbit is a very rare tumor, occurring mostly in the pediatric population, and can result in sight threatening complications and disfigurement. This review discusses previously reported cases with a focus on evolving treatment options and molecular genetics. METHODS: We report the youngest case of an orbital ABC with a confirmed gene fusion: a 17-month-old girl, with confirmed FGFR-UPS6 (Fibroblast Growth Factor Receptor 1-ubiquitin specific peptidase 6/tre-2)...

Background Allergic fungal rhinosinusitis (AFRS) is a hypersensitive response to fungi within the sinus cavity. Children represent a challenging group of patients with sinonasal disorders, as their sinus anatomy is not fully developed. This study aimed to determine the various clinical manifestations and management outcomes in children with AFRS. Methods A retrospective chart review of children who underwent sinus surgery for AFRS at a tertiary healthcare center between 2005 and 2021 was performed. Demographics, clinical manifestations, radiological and laboratory results, treatment regimens, complications, and recurrence rates were collected...

BACKGROUND: The incidences of pediatric scurvy has decreased substantially, particularly in developed countries, but there are still reports of it from developing countries. Unusual manifestations have led to delays in diagnosis and treatment. Nevertheless, there are few publications regarding misdiagnosis of scurvy. The objective is to determine dietary factors, clinical manifestations, laboratory and radiologic findings, treatment, and outcomes of scurvy cases. The occurrence of misdiagnosis and its associated factors are also explored...

Optic nerve glioma is a rather rare tumor. It predominantly arises in pediatric patients, including those with type I neurofibromatosis. This neoplasm is accompanied by decreased visual function and exophthalmos. Treatment strategy is individualized depending on age, volume and spread of tumor, as well as severity of clinical manifestations. Possible treatment options are surgical resection, chemotherapy, radiotherapy and their combination. Radiotherapy can be recommended for patients with intact visual functions, no severe proptosis and trophic lesions...

 Welcome to a new era in "Lit Commentary!"  I want to thank Tariq Bhatti for the past years of partnering with me in this endeavor. It has been a pleasure to collaborate with him.  We now welcome 2 new colleagues to Lit Commentary, Deborah I. Friedman and Marc J. Dinkin, who will work along with me. This is our first "Rodeo" together and you can see we all have different approaches to our reviews. We look forward to finding our groove and get in to some appropriate banter as we ride along! -Mark L. Moster, MD...

Although they can occur at all ages, orbital (OC) and periorbital cellulitis (POC) prevail in the pediatric population. Acute rhinosinusitis (ARS) is the most frequent predisposing factor of OC. Recent literature has suggested a medical management approach for OC and POC, with surgery reserved only for more severe cases. However, there is still a lack of consensus on the clinical markers of a need for surgery. The aim of this systematic review was to identify clinical markers of a need for surgery in children with OC...

PURPOSE: To report and investigate proptosis in a young girl with Noonan syndrome. METHODS: Observational case report. RESULTS: A 16-year-old girl affected by Noonan syndrome underwent a complete ophthalmological examination showing bilateral proptosis with hypofunction of lateral rectus and superior oblique muscles. Visual acuity, color discrimination and fundus examination were unremarkable. The orbital MRI showed bilateral proptosis and symmetrical enlargement of extraocular muscles, with bellies thickening and tendon sparing...