Erdheim–Chester Disease Presenting With Diplopia: A Challenging Diagnosis With Effective Treatment

Tavakoli, Mehdi; Roghaee, Shiva; Gunturu, Manasa; Omuro, Antonio; Lam, Byron L.; Mendoza‐Santiesteban, Carlos E.

doi:10.1097/wno.0000000000001076

Cited by 4 publications

(2 citation statements)

References 4 publications

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“…30,31,36,45,46 Dual therapy with dabrafenib and trametinib has previously been described in published reports of non-orbital intracranial ECD cases in adults. 47,48 The rationale for dual therapy with dabrafenib and trametinib in BRAF V600E -mutated ECD derives from experience with other BRAF V600E -mutated tumors whereby MEK and BRAF co-inhibition improves tumor response and survival by delaying or short-circuiting resistance mechanisms that arise on monotherapy. 49,50 Combination therapy may also paradoxically have an improved side effect profile compared with monotherapy treatments.…”

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

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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.

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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

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“…O terceiro grupo mais comum de manifestações relatadas da doença de Erdheim-Chester são as manifestações oftálmicas, correspondendo a 16 artigos. Entre as manifestações relatadas estão: proptose bilateral, nistagmo, diplopia, perda progressiva da acuidade visual, exoftalmia, lesões semelhantes a xantelasmas, infiltração da coróide, além de lesões com envolvimento das órbitas (6,7,17,18,(34)(35)(36)(37)(38)(39)(40)(41)(42)(43)(44).…”

Section: Discussionunclassified

Doença de Erdheim Chester com envolvimento isolado do SNC

Rodrigues¹,

Ribeiro²,

Faria³

et al. 2022

Braz. J. Hea. Rev.

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Introdução: A Doença de Erdheim-Chester é uma forma de histiocitose de células não-Langerhans que ocorre mais frequentemente após os 40 anos de idade, com leve predomínio no sexo masculino. Apresentação do caso: Paciente, sexo masculino, branco, X anos de idade, admitido no Hospital das Clínicas de Goiânia, com sintomas de cefaléia crônica, de caráter progressivo de inicio há 3 meses, associados a sintomas neurológicos de ataxia e diplopia. Referiu febre baixa diária, não aferida, com perda de 10kg no período descrito, não associado a dieta ou mudança de hábitos de vida. Nega comorbidades ou uso de medicamentos. Ao exame físico, apresenta quadro de Nistagmo e Romberg positivo e alteração da úvula para direita. Paciente não apresentava outros sinais dignos de nota. Discussão: Foram selecionados para a revisão, os artigos de relato de caso ou séries de caso relacionados a manifestações clínicas da doença de Erdheim-Chester. Os principais tipos manifestações clínicas relatadas na literatura são: neurológicas, cardiovasculares, oftálmicas, endócrinas, urinárias, hematológicas, ósseas, cutâneas, respiratórias, gastrointestinais, envolvimento de múltiplos sistemas e outras. Entre esses tipos de manifestações, as mais frequentes foram neurológicas, cardiovasculares e oftálmicas, correspondendo a 48% das manifestações relatadas. Conclusão: É fundamental ter uma equipe multidisciplinar acompanhando o paciente, para que sejam evitadas complicações e se possa proporcionar qualidade de vida ao paciente.

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Erdheim-Chester disease: a comprehensive review from the ophthalmologic perspective

Kanakis

Petrou

Lourida

et al. 2022

Survey of Ophthalmology

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Erdheim–Chester Disease Presenting With Diplopia: A Challenging Diagnosis With Effective Treatment

Cited by 4 publications

References 4 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

Doença de Erdheim Chester com envolvimento isolado do SNC

Erdheim-Chester disease: a comprehensive review from the ophthalmologic perspective

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