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.

Phakomatous Choristoma of the Orbit With Involvement of the Inferior Oblique Muscle.

The authors report a case of phakomatous choristoma presenting as an orbital tumor with involvement of the inferior oblique muscle. This is the only known case of this rare tumor directly invading and incorporating the inferior oblique. This tumor should be included in the differential of eyelid tumors and orbital tumors in infants. Finally, the authors review the histopathological and embryological characteristics of this lenticular tumor.

Normalization of Congenital Venous Stasis Retinopathy Following Sclerotherapy of a Macrocystic Lymphatic Malformation.

The authors describe, for the first time to their knowledge, a case of a congenital macrocystic lymphatic malformation of the orbit with associated venous stasis retinopathy that acutely normalized after drainage and sclerotherapy of the lesion. Prenatal ultrasound revealed prominence of the left orbital soft tissue, and at birth, the patient was noted to have unilateral proptosis, tortuous retinal vessels, and intraretinal hemorrhages in all 4 quadrants in the left eye. MRI demonstrated a primarily intraconal, multiloculated, T2-hyperintense mass consistent with a lymphatic malformation. Ultrasound-guided cyst aspiration and sclerotherapy was performed, with subsequent improvement of the proptosis and resolution of the vessel tortuosity and intraretinal hemorrhages. Although venous stasis retinopathy is usually related to central retinal vein occlusion or carotid artery occlusive disease, any entity that increases orbital venous resistance can generate retinal venous dilation and intraretinal hemorrhages, including an orbital lymphatic malformation.

A Pediatric Patient With an Orbital Respiratory Epithelial Cyst.

Respiratory epithelial cysts are rare orbital cysts that can arise secondary to choristomatous rests of respiratory epithelium. Approximately 15 congenital cases have been described in the literature, making it a rare disease entity. We present a case of a 14-month-old Middle Eastern male with a right infraorbital respiratory epithelial cyst. Magnetic resonance imaging of the brain and orbits revealed a right infraorbital cyst hyperintense on T1-weighted images and followed fluid density on T2-weighted images. This cyst was noted to displace the globe superiorly and inferior rectus muscle laterally. This cyst was excised using a transconjunctival approach. Histologically, the cyst wall was lined by ciliated columnar cells with interspersed mucus-containing cells and ciliated transitional epithelium was present, establishing the diagnosis of respiratory epithelial cyst. To our knowledge, this is the youngest patient with a respiratory epithelial cyst of the orbit reported in the literature.

Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing.

A 3-year-old girl presented with congenital orbital fibrosis. We performed molecular genetic analysis by whole exome and mitochondrial genome sequencing. No pathologic mutation was identified in the present case. To our best knowledge, this study presents the first report on the findings of mutational analysis of a patient with congenital orbital fibrosis.

A Unique Case of Bilateral Microphthalmia That May Be Related to 14q32.33.

A 2-day-old Hispanic boy was transferred to us with concerns of a small left eye. The pregnancy was uncomplicated, and both parents are healthy. Examination showed a left orbit that appeared to be empty with conjunctival tissue. The right eye had a 7 mm clear cornea, and retinal exam showed areas of thin or absent tissue and no visible optic nerve. MRI revealed a hypoplastic left orbit with an orbital cyst. The anterior-posterior diameter of the right globe was 14 mm and the left globe was 4 mm. Genetic microanalysis showed genetic abnormalities (845 kb gain) on chromosome 14 at q32.33. A diagnosis of bilateral microphthalmia with an orbital cyst was made. This is an isolated case of bilateral microphthalmia possibly associated with 14q32-33.

Trends over time in the incidence of congenital anophthalmia, microphthalmia and orbital malformation in England: database study.

AIMS: To study trends over time in the incidence of congenital anophthalmia, microphthalmia and orbital malformations in England, along with changes in hospital admission rates for these conditions. METHODS: Using English National Hospital Episode Statistics (1999-2011), the annual rate of hospital admissions related to anophthalmia, microphthalmia and congenital malformations of orbit/lacrimal apparatus was calculated per 100 000 infants. The records were person-linked, which enabled patients' 'first record' rates to be calculated as proxies for incidence. Similar analyses on pre-1999 datasets were also undertaken for microphthalmia. RESULTS: There was no systematic increase or decrease over time in the incidence of these conditions, but there was some fluctuation from year to year. The incidence of congenital anophthalmia ranged from 2.4 (95% CI 1.3 to 4.0) per 100 000 infants in 1999 to 0.4 (0 to 1.3) in 2011. The annual incidence of congenital microphthalmia was 10.8 (8.2 to 13.5) in 1999 and 10.0 (7.6 to 12.4) in 2011. The annual incidence of congenital orbital/lacrimal malformations was 0.5 (0 to 1.1) in 1999 and 0.7 (0 to 1.4) in 2011. Including multiple admissions per person, admission rates for microphthalmia showed a linear increase over time from 1999. The earlier data for microphthalmia indicated an increase in admission rates, but no change in incidence, from 1971 to 2011. CONCLUSIONS: The incidence of these conditions has remained stable in England in recent years. Although the incidence of microphthalmia was stable, hospital admission rates for it increased over time reflecting an increase in multiple admissions per affected person. These data may be useful for planning service provision.

Glial heterotopia of the orbit: a rare cause of proptosis.

BACKGROUND: Glial heterotopia is defined as presence of normal glial tissue in an unusual location without connection with the brain. It is a very rare clinical entity occuring mostly in the head and neck region which is generally present at birth. Orbital location is very rare. CASE REPORT: We report a case of a 4-month-old girl presenting congenital proptosis with progressive increase. CT scan revealed an intraorbital mass without bony defect. The patient was operated, and resection was subtotal. Histologically, the tumor was composed of glial tissue with plexus choroid and pathologist concluded glial heterotopia. The child is under constant medical supervision because recurrences can be observed after incomplete resection; she had no new clinical signs at 18 months follow-up.

Intraorbital Cystic Lesions: An Imaging Spectrum.

Presence of a cyst or a cystic component in an intraorbital mass often narrows the list of differential diagnoses to specific entities. Such a lesion in the orbit may arise from structures within the orbit, globe, and lacrimal system or from neighboring paranasal sinuses or meninges. Common congenital and developmental lesions encountered within the orbit include dermoids and epidermoids, and infrequently coloboma. Parasitic cysts (cysticercus), orbital abscess, mucocele, and vascular lesions are the most common acquired pathologies giving rise to fluid-containing lesions within the orbit. The role of a radiologist is crucial in expediting the diagnosis of orbital lesions with the help of characteristic imaging features on ultrasound, computed tomography, or magnetic resonance imaging. It also helps in identifying complications in others where formulation of an early and effective management strategy is vital for preserving vision.

Percutaneous sclerotherapy of congenital slow-flow vascular malformations of the orbit.

PURPOSE: This manuscript describes the clinical features, imaging findings, treatment details, and short-term outcomes of a series of congenital slow-flow vascular malformations. METHODS: This was a prospective study of congenital slow-flow vascular malformations involving the orbital region treated at a single institution with percutaneous sclerotherapy. RESULTS: Ten patients presented during the study period, comprising eight venous malformations, one lymphatic malformation, and one veno-lymphatic malformation. Nine patients underwent percutaneous sclerotherapy under digital subtraction angiography guidance, of which three developed marked rise in intraocular pressure requiring lateral canthotomy. The treatments were performed in the presence of an ophthalmologist who measured the intraorbital pressure during and after the procedure. On follow-up, some of the patients required repeat sessions of sclerotherapy. All patients had improvement of symptoms on follow up after the procedure. CONCLUSION: Congenital slow-flow vascular malformations of the orbital region are rare lesions that should be treated using a multidisciplinary approach. Monitoring of the intraorbital pressure is required both during and after the procedure to decide about the need for lateral canthotomy to reduce the transiently increased intraorbital pressure.

Rare orbital cystic lesions in children.

PURPOSE: To analyze the clinical features, imaging findings and surgical management of rare orbital cystic lesions in children. MATERIALS AND METHODS: Clinical records of 5 Chinese children with rare orbital cystic lesions including cystic teratoma, congenital cystic eye, optic nerve sheath cyst, parasitic cyst, and meningoencephalocele were reviewed. Their clinical history, symptoms and signs, ultrasonography or computed tomography/magnetic resonance imaging (CT/MRI), surgical management were presented in detail. RESULTS: Among the 5 patients, 2 were male and 3 female. The right orbit was involved in 2 patients and the left orbit in 3 patients. Ages ranged from 2 months to 11 years (mean, 4.2 years). Cystic teratoma showed a well-outlined cystic mass with a focal bone-like structure (or calcific densities) in their lumens as revealed with CT scan. Congenital cystic eye was a rare ocular malformation that existed at birth and showed a cystic lesion with no definite ocular structures in the orbit. With MRI examination, the optic nerve sheath cyst demonstrated a clear figure of the central optic nerve and the surrounding sheath cyst. Patients with parasitic cysts usually had frequent animal contact and high levels of blood eosinophils. Meningoencephalocele, the herniation into the orbit of brain tissue, had the typical CT/MRI features, with bone defect and soft tissue mass in the orbit and a homogenous appearance that was isodense with brain. CONCLUSIONS: Besides common dermoid/epidermoid cyst, rare orbital cystic lesions such as cystic teratoma, congenital cystic eye, optic nerve sheath cyst, parasitic cyst, and meningoencephalocele should be considered in children.

Congenital cystic eye associated with a low-grade cerebellar lesion that spontaneously regressed.

BACKGROUND: Congenital cystic eye is an exceedingly rare ocular malformative disease, originated from the failure in the invagination of the optic vesicle during the fetal period and it can be associated with other ocular and non-ocular abnormalities. Diagnosis is based on clinical, radiological and histological features. CASE PRESENTATION: We report a case of a congenital cystic eye associated with a cerebellar lesion accidentally detected at magnetic resonance imaging. Biopsy of the mass has not been performed due to parental rejection. Based on radiologic features and absence of clinical signs, a low-grade glioma diagnosis was hypothesized, but histological characterization was not obtained. Follow-up neuro-imaging 6 months after diagnosis showed that intracranial lesion spontaneously regressed without any treatment. CONCLUSION: Our report stresses the importance of early MRI in children with ocular malformations, in order to detect associated intracranial defects, also of non-malformative origin. Additionally, we debate the clinic-radiological features of the intracranial lesions that could allow a wait-and-see policy. We also recommend a strict clinical and neuro-imaging follow-up for these lesions. Finally, biological mechanisms at the base of spontaneous regression of the brain lesions are discussed.

Neonatal orbital abscess.

Orbital abscess is life-threatening and rare in children. Reported herein is a term male neonate who had methicillin-resistant Staphylococcus aureus orbital abscess, and a literature review of this disease. A total of 16 neonates diagnosed with neonatal orbital abscess are reported in the literature. There is a mild male predilection and two neonates were delivered prematurely. Leukocytosis, fever, ethmoiditis and associated upper respiratory tract infection were found in approximately half of them. Eight neonates had sepsis and 14 patients underwent surgical intervention. One patient died. Staphylococcus aureus was identified in 14 out of 17 patients. Neonatal orbital abscess is rarely encountered but may be fatal. Although streptococci are prevalent in childhood orbital infection, S. aureus was predominant in neonatal orbital abscess in the present series. Appropriate antimicrobial therapy against S. aureus is essential in treating neonatal orbital abs ess. This case suggests that a higher initial dose of vancomycin may be an effective and safe strategy for severe S. aureus infection in neonates.

[Clinical analysis of 14 cases of congenital orbital fibrosis].

OBJECTIVE: The purpose of this study was to show the clinical and imaging characteristics in patients with congenital orbital fibrosis. METHODS: A retrospective review of a series of 14 patients with congenital orbital fibrosis hospitalized in Institute of Orbital Disease during 2005 to 2009 have been characterized. Patients aged from 3 months to 18 years old, the median age was 7 years old, 6 cases (43%) were male. RESULTS: Ocular changes were found at birth in all patients, symptoms at onset of the disease included dysfunction of eye movement (12 cases), lagophthalmos (7 cases), diplopia (5 cases), exophthalmos (4 cases), conjunctival congestion (4 cases) and endophthalmos (2 cases). The results of medical examinations including visual acuity, exophthalmos or endophthalmos, diplopia with or without compensative head station, displacement of the eye, lagophthalmos, blephroptosis and ocular dyskinesia all have been record. In the 14 cases, 13 patients have undertaken the CT imaging examination, soft tissue lesions have been found in the orbit with high density and irregular shape, accompanied with thickened ocular muscles and anatomical changes. Of the 9 cases which underwent MRI examination, all of the lesions showed medium signals in T(1)WI, with medium to low signals in T(2)WI. Local excision has been performed in 2 patients, we found that the orbital lesions packaged with hard fibrous tissues around, and the ocular muscles were thick and stark. Pathological examination showed fibrosis and degeneration in the lesions, lacrimal gland and ocular muscles. Some lymphocyte infiltration also has been observed. CONCLUSIONS: Congenital orbital fibrosis is an orbital disease occurs at birth and is characterized with series of signs such as endophthalmos or exophthalmos, ocular dyskinesia and diplopia. Imaging examinations often find abnormal mass with irregular shape and soft tissue density in orbit. Till now, no efficient therapy has been established.

Congenital orbital fibrosis associated with fibrosis of extraocular muscle.

Congenital orbital fibrosis is a non-familial, unilateral, distinct clinical entity, characterised by the presence of a diffusely infiltrating orbital mass and is extremely a rare disease. Congenital orbital fibrosis with combined fibrosis of extraocular muscles have not been reported previously. We treated an 8-year-old boy with the presence of a diffusely infiltrating orbital mass and fibrosis of extraocular muscles with secondary involvement of extraocular muscles. Clinical examination revealed left exotropia, hypotropia and fibrosis of extraocular muscle, an irregular, retrobulbar mass located within the orbit, incorporating the optic nerve, medial, superior, inferior and lateral rectus muscle. The CT, MRI and light microscopic studies confirmed the diagnosis. We performed exploration of the orbit, release and biopsy of scar tissue and strabismus surgery. Unlike other reported cases, our case was a progressive congenital disorder with combined fibrosis of extraocular muscle.