Acometimento intra-ocular na doença de Erdheim-Chester - primeiro relato na literatura: relato de caso

Neto, Laurentino Biccas; Zanetti, Fernando Roberte

doi:10.1590/s0004-27492007000500025

Cited by 13 publications

(4 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…31,32 Intraocular findings have been described only in a handful of cases and include anterior uveitis, vitritis, choroidal infiltration, optic disc edema, cystoid macular edema, recurrent serous retinal detachment, retinal drusen-like deposits, and retinal pigment epithelial changes. 33–37 Visual symptoms are reported in 3% of patients overall who are diagnosed with ECD and 23% of those with central nervous system involvement. 38,39 Ophthalmic complaints may be the presenting sign of central nervous system disease, manifesting as cranial nerve palsy, strabismus, diplopia, and nystagmus.…”

Section: Review Of Literature and Case Discussionmentioning

confidence: 99%

Ophthalmologic Findings in Pediatric Erdheim-Chester Disease: A Literature Review With a Novel Case Report

Yeager

Grimes

Col

et al. 2023

Ophthalmic Plastic &Amp; Reconstructive Surgery

View full text Add to dashboard Cite

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 9.6 years (1.8–17 years) with a mean time of symptom presentation to diagnosis of 1.6 years (0–6 years). Nine patients (45%) had ophthalmic involvement at diagnosis, 4 who presented with ophthalmic complaints: 3 with observable proptosis and 1 with diplopia. Other ophthalmic abnormalities included eyelid findings of a maculopapular rash with central atrophy on the eyelids and bilateral xanthelasmas, neuro-ophthalmologic findings of a right hemifacial palsy accompanied by bilateral optic atrophy and diplopia, and imaging findings of orbital bone and enhancing chiasmal lesions. No intraocular involvement was described, and visual acuity was not reported in most cases. Conclusions: Ophthalmic involvement occurs in almost half of documented pediatric cases. Typically presenting with other symptoms, the case highlights that isolated exophthalmos may be the only clinical sign, and ECD should be included in the differential diagnosis of bilateral exophthalmos in children. Ophthalmologists may be the first to evaluate these patients, and a high index of suspicion and an understanding of the varied clinical, radiographic, pathologic, and molecular findings are critical for prompt diagnosis and treatment of this unusual disease.

show abstract

Section: Review Of Literature and Case Discussionmentioning

confidence: 99%

Ophthalmologic Findings in Pediatric Erdheim-Chester Disease: A Literature Review With a Novel Case Report

Yeager

Grimes

Col

et al. 2023

Ophthalmic Plastic &Amp; Reconstructive Surgery

View full text Add to dashboard Cite

show abstract

“…Occasionally it may be resistant to treatment, requiring surgical debulking. Much rarer is intraocular involvement, with only 1 case in the literature reporting subretinal infiltration 21 and 4 choroidal infiltration 10, 11, 12…”

Section: Discussionmentioning

confidence: 99%

“…In our case, we treated the choroidal infiltration with oral corticosteroids, also obtaining an associated reduction in the overlying SRF and exudation. The literature reports short-term resolution of SRF with ocular therapies such as intravitreal anti-vascular endothelial growth factor (VEGF), intravitreal methotrexate, and photodynamic therapy in combination with systemic therapies such as oral corticosteroids and chemotherapy agents 10 , 11 , 21 ; however, recurrences are common.…”

Section: Discussionmentioning

confidence: 99%

Choroidal mass as the first presentation of Erdheim-Chester disease

Pichi

2019

American Journal of Ophthalmology Case Reports

View full text Add to dashboard Cite

Purpose To describe a choroidal mass that proved to be histiocytic choroidal infiltration in Erdheim-Chester disease. Observations A 54-years-old Caucasian male presented to our Retina Clinic with a suspect of choroidal melanoma in the left eye. Dilated fundus exam of the left eye showed a yellow-grey lesion along the inferior arcade, with sub-retinal fluid clinically visible. Enhanced depth imaging-OCT (EDI-OCT) showed a dome-shaped choroidal lesion with hyperreflective exudation present between the inner retina and the retinal pigment epithelium (RPE). On fundus autofluorescence the lesion appeared to have a diffuse speckled hyper-autofluorescent pattern secondary to the exudative subretinal material. On ultrasound, the lesion appeared hyper-echoic and dome-shaped, with a baseline thickness of 6.13 mm. Indocyanine green angiography (ICGA) was performed and showed hypocyanescence of the lesion from the early phases that persisted through the whole exam. Chest CT with contrast showed an abnormal, non-calcific, eccentric thickening of segments of the aorta (“coated aorta”) and PET an abnormally strong labeling of the distal ends of the long bones. An additional proximal tibial biopsy was performed to confirm the diagnosis on histology of Erdheim-Chester disease and the patient was started on oral prednisone. The choroidal mass progressively shrunk and the subretinal exudative material on top partially reabsorbed. Conclusions and importance Intraocular involvement in Erdheim-Chester disease is extremely rare but as a result of recent better awareness the number of new diagnosis is increasing. Erdheim-Chester disease should be considered in the differential of every choroidal mass.

show abstract

“…Un estudio brasileño, realizado por Biccas y Zanetti, reportó el primer caso de compromiso intraocular en un paciente con ECD, que manifestó proptosis del ojo derecho sin síntomas visuales 11 . Ese caso es muy similar al de nuestro paciente con proptosis palpebral bilateral, asociado a conjuntivitis y edema facial progresivo.…”

Section: Discussionunclassified

Enfermedad de Erdheim-Chester

Bica

Rivera

2014

Rev. Argent. Reumatol.

View full text Add to dashboard Cite

La enfermedad de Erdheim-Chester (ECD), también conocida como Histiocitosis Esclerosante Poliostótica, es un trastorno poco frecuente, de etiología desconocida, caracterizado por lesiones osteoesclerosas multifocales de los huesos largos, con o sin infiltración histiocitaria de células no Langerhans a tejidos extraesqueléticos, con manifestaciones clínicas multiorgánicas. Describimos el caso de un paciente joven de sexo masculino, con diagnóstico clínico e histopatológico de ECD que comienza con edema facial progresivo y sinusopatía, presentación infrecuente en esta patología, que hizo difícil el diagnóstico.

show abstract

Acometimento intra-ocular na doença de Erdheim-Chester - primeiro relato na literatura: relato de caso

Cited by 13 publications

References 11 publications

Ophthalmologic Findings in Pediatric Erdheim-Chester Disease: A Literature Review With a Novel Case Report

Ophthalmologic Findings in Pediatric Erdheim-Chester Disease: A Literature Review With a Novel Case Report

Choroidal mass as the first presentation of Erdheim-Chester disease

Enfermedad de Erdheim-Chester

Contact Info

Product

Resources

About