RESUMO
Tumors of the eye, orbit, and ocular adnexa can arise in the pediatric population. These entities can be both vision- and life-threatening and may be associated with systemic disease. Given their relative rarity, pediatricians must be aware of these conditions and understand what findings warrant immediate referral to an ophthalmologist for initiation of further testing. We aimed to review these conditions and highlight clinical features to promote awareness and expedite diagnosis. Tumors are subdivided into the following categories for review: anterior tumors of the eyelid and ocular surface, orbital tumors, and intraocular tumors.
Assuntos
Neoplasias Oculares , Neoplasias Orbitárias , Humanos , Criança , Neoplasias Oculares/diagnóstico , Neoplasias Oculares/terapia , Neoplasias Orbitárias/diagnóstico , FaceRESUMO
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.
Assuntos
Doença de Erdheim-Chester , Exoftalmia , Xantomatose , Criança , Humanos , Diagnóstico Diferencial , Diplopia/diagnóstico , Diplopia/etiologia , Doença de Erdheim-Chester/complicações , Doença de Erdheim-Chester/diagnóstico , Doença de Erdheim-Chester/patologia , Exoftalmia/diagnóstico , Exoftalmia/etiologia , Exoftalmia/patologia , Lactente , Pré-Escolar , AdolescenteRESUMO
INTRODUCTION: Schimmelpenning-Feurstein-Mims Syndrome (SFMS) is a rare neurocutaneous disorder. Herein, we describe a novel case and review the phenotypic spectrum and molecular findings of SFMS from an ophthalmology perspective. METHODS: Clinical case including presentation, management, pathology, and genetic analysis is described. A literature search on Schimmelpenning-Feuerstein-Mims and its synonyms, Linear nevus sebaceous syndrome, Organoid nevus syndrome, Jadassohn nevus phacomatosis, and Solomon syndrome, was conducted. An updated review and description of published cases with identified genetic mutations are described. RESULTS: A 13-year-old boy with SFMS presented with acute right eye pain and an enlarging orbital mass. Excisional biopsy of the mass revealed an orbital choristoma. Genetic analysis of the orbital tumor confirmed a KRAS c.35 G>A, p.G12D mutation. A literature search revealed 19 cases of SFMS with mutations in the RAS-pathway. KRAS, HRAS, and NRAS mutations were identified in 74%, 21%, and 5% of patients, respectively. Ophthalmic pathology was seen in 83% of patients. Systemic findings varied and involved the skin, central nervous system, and eyes most commonly. DISCUSSION: SFMS, a rare neurocutaneous disorder, results from postzygotic mosaic mutations in the RAS/MAPK pathway. Patients present with various systemic findings and ophthalmic manifestations occur in most cases. This is the first case description of a KRAS mutation identified in an orbital choristoma in SFMS. The disease is described under various names in the literature, and we propose that all syndromic cases with mosaic RAS mutations be reported under the eponym, SFMS.
Assuntos
Coristoma , Mutação , Proteínas Proto-Oncogênicas p21(ras) , Humanos , Masculino , Proteínas Proto-Oncogênicas p21(ras)/genética , Adolescente , Coristoma/genética , Coristoma/patologia , Síndromes Neurocutâneas/genética , Síndromes Neurocutâneas/diagnóstico , Síndromes Neurocutâneas/patologia , Doenças Orbitárias/genética , Doenças Orbitárias/diagnóstico , Doenças Orbitárias/patologiaRESUMO
PURPOSE: To analyze the clinical and demographic features and surgical outcomes of a series of patients with adult-onset chronic divergence insufficiency esotropia to investigate novel associations of this condition with race, sex, and surgical dose-response. METHODS: The medical records from a single practice were retrospectively reviewed to identify patients with adult-onset chronic divergence insufficiency esotropia who underwent strabismus surgery over a 12-year period. Demographic, clinical, surgical, and outcome data were analyzed to determine statistically significant findings with respect to race, sex, and surgical results. RESULTS: A total of 27 patients (all white; 23 females) were identified. The average age was 72 years. All patients underwent medial rectus recession bilaterally or unilaterally. The dose-response to surgery (1.6(Δ)/mm) was significantly less than that predicted by standard surgical nomograms; however the individual dose-responses varied directly with preoperative angle. CONCLUSIONS: Adult-onset chronic divergence insufficiency esotropia occurs predominantly in white women in our experience. Medial rectus recession is an effective surgical treatment when augmented recession amounts are employed. The findings that surgical dose-response was relatively low but increased with preoperative angle suggest a mixed mechanism of chronic lateral rectus weakness combined with reduced medial rectus elasticity.
Assuntos
Esotropia/diagnóstico , Esotropia/cirurgia , Músculos Oculomotores/cirurgia , Procedimentos Cirúrgicos Oftalmológicos , Idoso , Idoso de 80 Anos ou mais , Diplopia/diagnóstico , Diplopia/fisiopatologia , Diplopia/cirurgia , Esotropia/fisiopatologia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Músculos Oculomotores/fisiopatologia , Estudos Retrospectivos , Técnicas de Sutura , Resultado do Tratamento , Visão Binocular/fisiologia , Acuidade Visual/fisiologiaRESUMO
This article discusses the surgical options, both open and endoscopic,developed to preserve voice, maintain swallowing, and avoid permanent tracheotomy in patients with intermediate-sized laryngeal lesions.