Enfermedad de Erdheim-Chester: primer caso pediátrico reportado en Colombia / Erdheim-Chester disease: First pediatric case report in Colombia

Resumen | La enfermedad de Erdheim-Chester es una condición extremadamente rara en la edad pediátrica. Se presenta el caso de una niña de 12 años con diagnóstico histológico y radiológico de enfermedad de Erdheim-Chester multisistémica y mutación en el gen BRAF, que requirió tratamiento con dabrafenib. Hasta el momento, se han reportado 22 casos pediátricos en el mundo y este es el segundo en Latinoamérica. Se observó el hallazgo radiológico denominado signo oscuro paraselar, descrito hasta ahora en pacientes con hipofisitis autoinmunitaria para diferenciarlos de aquellos con adenomas hipofisarios. Este reporte contribuye a la literatura médica en dos aspectos fundamentales: las manifestaciones clínicas de la enfermedad y su diagnóstico en la población pediátrica.

Abstract | The Erdheim-Chester's disease is extremely rare in children. We present the case of a 12-year-old girl with histological and radiological diagnosis of this disease and mutation of the BRAF gene, who developed multisystemic compromise requiring treatment with dabrafenib. We identified 22 reports of this condition among children worldwide and this is the second pediatric case in Latin America. Diagnostic imaging is critical to confirm Erdheim-Chester disease and for the surgical planning of the biopsy. Additionally, we identified the parasellar dark sign, which has previously been reported on lymphocytic hypophysitis. This report contributes to the current practice as it shows the clinical presentation and the diagnostic workout of this disease in pediatrics.

Enfermedad de Chester Erdheim costal: reporte de caso y revisión de la literatura / Chester Erdheim costal disease: case report and literature review

Introducción. La enfermedad de Erdheim Chester es un trastorno infrecuente, de etiología no clara y edad de presentación variable, que se caracteriza por la proliferación anormal de histiocitos no Langerhans. Puede presentarse de forma asintomática, con manifestaciones locales o como complicaciones sistémicas. El diagnóstico se basa en las condiciones clínicas del paciente, estudios imagenológicos y el estudio anatomopatológico, mediante el cual se confirma la enfermedad. Caso clínico. Paciente masculino con una lesión lítica en el séptimo arco costal, inicialmente asintomático y posteriormente con dolor torácico persistente. Se realizó resección y reconstrucción de la pared torácica, con resolución de la sintomatología y adecuada evolución posoperatoria. El resultado de la patología confirmó el diagnóstico de enfermedad de Erdheim Chester. Discusión. Se presenta el caso de un paciente con compromiso costal y fractura patológica como localización y manifestación inusual de la enfermedad de Erdheim Chester, tratado quirúrgicamente de forma adecuada, y sin aparición de recidiva. Debido a la diversidad de síntomas que pueden presentar y a la afectación de múltiples órganos, además de los estudios imagenológicos, la clínica debe orientar los exámenes complementarios, como electro o ecocardiograma, resonancia nuclear magnética, o angioTAC. En los pacientes asintomáticos se ha recomendado un manejo expectante y en los sintomáticos el tratamiento médico con glucocorticoides, inhibidores de BRAF e interferón alfa. El papel de la cirugía no ha sido estudiado a profundidad

Introduction. Erdheim Chester disease is a rare disorder of unclear etiology and variable age of presentation, characterized by abnormal proliferation of non-Langerhans histiocytes. It can present asymptomatic, with local manifestations or as systemic complications. The diagnosis is based on the clinical conditions of the patient, imaging studies, and the pathological study, through which the disease is confirmed.Clinical case. A male patient with a lytic lesion in the seventh costal arch, initially asymptomatic and later with persistent chest pain, underwent resection and reconstruction of the chest wall, with resolution of the symptoms and adequate postoperative evolution. The pathology report confirmed the diagnosis of Erdheim Chester's disease.Discussion. The case of a patient with rib involvement and pathological fracture is presented as an unusual location and manifestation of Erdheim Chester's disease, treated surgically appropriately, and without recurrence. Due to the diversity of symptoms that they can present and the involvement of multiple organs, in addition to imaging studies, the clinic should direct complementary tests such as electrocardiogram or echocardiogram, magnetic resonance imaging, or CT angiography. Expectant management has been recommended in asymptomatic patients, and medical treatment with glucocorticoids, BRAF inhibitors, and interferon alfa in symptomatic patients. The role of surgery has not been studied in depth

Erdheim-Chester disease presenting at the central nervous system

Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis (LCH) that affects different body systems. It was recently recognized as a neoplastic disorder after identifying an activating mutation of the MAPK pathway. Neurological presentations of ECD are rare. We present a case of a 35-year-old male who presented to the emergency department with neck pain, headache and vomiting for 2 months; MRI showed multiple heterogeneous intracranial masses. Neurosurgery performed a suboccipital craniotomy, partially resected the cerebellar mass, and placed a parietal to frontal shunt catheter. Biopsy results from the cerebellar mass demonstrated cerebellar tissue involved by a diffuse proliferation of foamy histiocytes and spindle cells admixed with prominent lymphoplasmacytic infiltrate and positive for CD68, CD163, Factor XIIIa and Fascin. PET scan showed hypermetabolic uptake within the medullary portions of the diffuse abnormal lesions of the distal femurs, tibias, and fibulas, and cardiac MRI was nonsignificant. The patient was started on vemurafenib and continued to show improvement in a 3-month outpatient follow-up.

El ojo: Un rompecabezas diagnóstico: Estudio observacional descriptivo y revisión / The Eye: A Diagnostic Puzzle: Descriptive observational study and review

Se comunica una serie de casos, multicéntricos de la cual participaron cinco instituciones. La muestra fue de 17 pacientes, de los cuales 11 pertenecían al Hospital Dr. J.M. Cullen. Todos consultaron por compromiso orbitario y/o periorbitario. El compromiso en hombres fue de 23.4% y un 76.6% en mujeres. La edad media en años fue de 45.4 (17-69 años). Dentro de los diagnósticos encontrados, cinco casos fueron Enfermedad Relacionada con IgG4 (ER-IgG4), dos casos de Enfermedad de Erdheim Chester (EEC), dos Xantogranuloma, dos xantelasmas, un caso de metástasis de cáncer de mama, un caso de orbitopatía tiroidea, un caso de Amiloidosis con mieloma múltiple, y tres sin diagnóstico. Se revisan los diagnósticos diferenciales encontrados.

A series of multicentric cases is reported, of which five institutions participated. The sample was of 17 patients, of which 11 belonged to our Hospital, the Dr. J.M. Cullen Hospital. All consulted for orbital and/or periorbital commitment. The commitment in men was 23.4% and 76.6% in women. The average age in years was 45.4 (17-69 years). Among the diagnoses found, five cases were IgG4-Related Disease, two cases of Erdheim Chester Disease, two Xantogranuloma, two xanthelasmas, a case of breast cancer metastases, a case of thyroid orbitopathy, a case of Amyloidosis with multiple myeloma, and three without diagnosis. Differential diagnoses found are reviewed.

Enfermedad de Erdheim-Chester: Serie de diecinueve casos y un diagnóstico diferencial de relevancia / Erdheim-Chester Disease: Series of nineteen cases and a relevant differential diagnosis

La enfermedad de Erdheim-Chester (EEC) es una histiocitosis de células no Langerhans de presentación proteiforme y escaso conocimiento. Se presenta una serie de 19 casos de 4 centros, registrados de junio de 2012 a junio de 2019. Se incluyeron aquellos pacientes con clínica, anatomía patológica e inmunohistoquímica característica de la enfermedad. Se excluyeron pacientes con hallazgos indefinidos. Resultados: al igual que en la literatura, el compromiso más frecuente fue el óseo por imagenología, la mitad de estos sintomático. Nuestra serie presenta mayor incidencia de mujeres (casi 70%). Siete pacientes presentaron nódulo mamario como forma de presentación. La mayoría recibieron dosis media de esteroides asociado a otra droga inmunosupresora. La mortalidad fue del 16%. Conclusión: comunicamos una serie de pacientes con la EEC mencionando las características más destacables. Es llamativo el número de pacientes con afectación mamaria, por lo cual proponemos téngase en cuenta en el diagnóstico diferencial de la patología tumoral mamaria.

Erdheim-Chester disease (ECD) is a non-Langerhans histiocytosis, protein manifestations at start and little known. We included 19 patients from June 2012 to June of 2019. Inclusion criteria: clinical features, histopathology and immunostaining compatible with ECD. We excluded patients with undefined features. Results: Bones were the most frequent affected, half of them were asymptomatic. Seventy per cent of the patients were women, and 7 of them developed a nodule breast as first manifestation of ECD. The patients were treated with corticosteroids associated or not with immunosuppressants. The mortality rate was 16%. Conclusion: We reported a series of patients with ECD, enhancing the most frequent features. It is striking the number of patients with breast involvement; we propose to include the Erdheim-Chester disease in differential diagnosis of breast tumor.

Cardiovascular Manifestations of Erdheim-Chester's Disease: A Case Series / Manifestações Cardiovasculares da Doença de Erdheim-Chester: Uma série de Casos

Abstract Erdheim-Chester Disease is a rare entity, classified as an inflammatory myeloid neoplasm, with an unknown incidence, occurring preferentially in men after 50 years of age. Classically, it has a multisystemic presentation, with the skeletal system being the most frequently affected (90% of the patients), followed by genitourinary involvement in 60% of cases and central nervous system in the pituitary and diabetes insipidus in 25% of the cases. Cardiovascular manifestations are present in more than half of the patients, with aortic infiltration and atrial pseudotumor being the most common forms.

Resumo A doença de Erdheim-Chester é uma entidade rara classificada como neoplasia mielóide inflamatória, com incidência desconhecida que ocorre preferencialmente em homens após os 50 anos de idade. Classicamente apresenta-se de forma multissistêmica, sendo sistema esquelético o mais frequentemente comprometido (90% dos pacientes), seguido do sistema geniturinário em 60% dos casos e sistema nervoso central em hipófise e diabetes insipidus em 25% dos casos. As manifestações cardiovasculares estão presentes em mais da metade dos pacientes, sendo a infiltração da aorta e o pseudotumor atrial as formas mais encontradas.

Solitary extranodal Rosai-Dorfman disease of the mandible: an exceedingly rare presentation

Sinus histiocytosis with massive lymphadenopathy, generally known by the name of Rosai-Dorfman disease is a rare benign condition principally affecting cervical lymph nodes. Concurrent extra-nodal disease frequently occurs, however, solitary extra-nodal disease involving the mandible is exceedingly rare with less than five reported cases in the English literature. We describe a case of primary involvement of the mandible in a 27-year-old female, and discuss the differential diagnosis of this disease with other histiocytic lesions.

Síndrome coronario agudo y enfermedad de Erdheim-Chester. Patogénesis e implicaciones terapéutica / Acute Coronary Syndrome in Erdheim-Chester. Etiopathogenesis and therapeutic Implications

Resumen La enfermedad de Erdheim-Chester es una histiocitosis celular diferente a la histiocitosis de Langerhans, de origen incierto. Se caracteriza por una implicación multi-orgánica debida a la infiltración de los histiocitos CD68+/CD1a-, en forma de xantogranulomas, que afectan principal y comúnmente a la metáfisis y diáfisis de huesos largos. El diagnóstico se realiza mediante biopsia, donde se revelan histiocitos CD68+/CD1a-, carencia de proteína S, y presencia de gránulos de Birbeck. Se ha subestimado la implicación cardiovascular. Reportamos un caso de un varón de 67 años con la enfermedad de Erdheim-Chester e infarto de miocardio agudo, debido a implicación coronaria, además de enfermedad ósea, vascular, pituitaria y retroperitoneal. Revisamos la literatura relevante y describimos el tratamiento clínico de estos pacientes.

Abstract Erdheim-Chester disease is a non-Langerhans cell histiocytosis of uncertain origin. It is characterized by multiorgan involvement due to infiltration of CD68+/CD1a- histiocytes, in the form of xantogranulomas, most commonly affecting the metaphysis and diaphysis of long bones. The diagnosis is made by biopsy showing CD68+/CD1ahistiocytes, lack of S protein and Birbeck granules. Cardiovascular involvement is underestimated. We report a case of a 67 year-old man with Erdheim-Chester disease and acute myocardial infarction due to coronary involvement, in addition to bone, vascular, pituitary and retroperitoneal disease. We review relevant literature and describe the clinical management of these patients.

Tratamiento con sirolimus y prednisona en enfermedad de Erdheim-Chester con compromiso cardiaco: caso clínico / Sirolimus and prednisone for the treatment of Erdheim-Chester disease with cardiac involvement: report of one case

Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytic disorder. We report a 76-years-old man who suffered a cardiac tamponade secondary to ECD. A pericardial window was made and during the operation the surgeons observed that the myocardium was diffusely infiltrated. Twenty-eight months before, ECD was clinically diagnosed and prednisone and methotrexate were prescribed. Due to disease progression which culminated in the cardiac tamponade, methotrexate was changed to sirolimus aiming to obtain plasma levels between 5-8 ng/ml. This treatment stabilized his cardiac function allowing a survival of 52 months after its initiation, with fewer side effects.

Doença de Erdheim-Chester / Erdheim-Chester Disease

A Doença de Erdheim-Chester é uma histiocitose não Langerhans rara e de incidência ainda desconhecida. Caracteriza-se por lesões osteoescleróticas de ossos longos podendo, também, infiltrar tecidos extraesqueléticos como coração, pulmões, olhos e retroperitônio. É relatado o caso de uma paciente portadora de Doença de Erdheim-Chester tratada no Hospital de Clínicas de Porto Alegre (AU)

Erdheim-Chester disease is a rare form of non-Langerhans histiocytosis whose incidence remains unknown. Characterized by osteosclerotic lesions in long bones, it can also penetrate such extraskeletal tissues as heart, lungs, eyes and retroperitoneum. Here we report the case of a female patient with Erdheim-Chester disease treated at the Hospital de Clínicas of Porto Alegre (AU)

Enfermedad de Erdheim-Chester: fractura patológica de húmero izquierdo / Erdheim-Chester Disease: Pathological fracture of the left humerus

La Enfermedad de Erdheim-Chester es una forma rara de histiocitosis que no es de células de Langerhans. Es de etiología desconocida y compromete comúnmente a adultos. Las manifestaciones clínicas son heterogéneas debido a la infiltración histiocítica en múltiples sistemas. Cuando compromete al esqueleto produce dolor óseo, asociado a infiltrados pulmonares intersticiales, cardiacos, hepáticos o renales1-3. Describimos un caso que comienza con dolor óseo crónico y fractura patológica de húmero izquierdo con compromiso poliostótico, sin evidencia de enfermedad multisistémica.

The Erdheim Chester disease is a rare presentation of non Langerhans cell histiocytosis. The etiology is unknown, and is more common in adults. The clinical manifestations are heterogeneous due to histiocytic infiltration of multiple systems. When there is skeletal involvement, it produces bone pain, and may be associated with interstitial, heart, liver, kidney or pulmonary infiltrates1-3. A case is presented on a patient who began with chronic bone pain and a pathological fracture of the left humerus with polyostotic involvement and with no evidence of multisystemic disease.

Cardiac involvement in Erdheim-Chester disease: a case report

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis of unknown etiology characterized by proliferation of lipid-containing foamy histiocytes affecting bones and potentially every organ. There is a wide clinical spectrum of the disease, ranging from asymptomatic bone or soft-tissue lesions to life-threatening systemic involvement. Although the initial descriptions published by Jakob Erdheim and William Chester in 1930 included a patient with right atrial infiltration on autopsy, cardiovascular involvement in ECD has only gained more recognition recently. In the present report, we describe a case with cardiac involvement, presenting with symptomatic heart failure and a cardiac mass assessed with echocardiogram and cardiac magnetic resonance imaging.

Enfermedad de Erdheim-Chester: descripción de un síndrome poco frecuente de presentación atípica en la adolescencia / Erdheim-Chester´s diseases: description of a rare syndrome of atypical presentation in adolescente

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

Erdheim-Chester ́s Disease (ECD), also known as Polyostotic Scleros-ing Histiocytosis, is a rare disorder of unknown etiology, characterized by multifocal osteosclerotic lesions of the long bones, with orwithout histiocytic infiltration of non-Langerhans cells to extraskeletal tissues, presenting multiorganic manifestations. We describethe case of a young male patient with clinical and histopathological diagnosis of ECD who presented with progressive facial edema and sinusopathy, unusual presentation in this disease, making the diagnosis difficult.

Lesão granulomatosa intracraniana mimetizando meningioma: Relato de um caso da doença de Erdheim-Chester / Granulomatous lesion mimicking intracranial meningioma: Erdheim-Chester Disease case report

Erdheim-Chester disease (ECD) is a rare non-Langerhans cells histiocytosis witch affects multiple organs with variable clinicalpresentation. It has a challenging diagnosis most often done after extesnsive investigation. There are no pathognomonicradiological or histological patterns, that is why the diagnosis is based on clinical suspect when all findings areput together andthe immunohistochemistry differentiates from others histiocytosis.The central nervous system involvement is even more rare and the presentation may vary from nodular lesion, white matterinfiltration, to expansive mass effect tumors that may need surgical intervention.In this article we present a case report of ECD and discuss diagnostic and terapeutic options.

Erdheim-Chester disease in a child / La enfermedad de Erdheim-Chester en una niña

Erdheim-Chester disease (ECD) is a rare systemic non-Langerhans histiocytosis that affects multiple organ systems. It occurs more often in adults, and paediatric ECD is extremely rare. The diagnosis of ECD can be established based on clinical presentations and imaging but the final diagnosis should be based on biopsy. Treatment of ECD has involved the use of corticosteroids, radiotherapy, chemotherapy, surgery and haematopoietic stem cell transplantation, yet the efficacy of these treatments is difficult to determine. At present, it is thought that the treatment of interferon-α (IFN-α) is safe and effective for ECD. Herein, we report on an 11-year old girl who was admitted to hospital because of systemic bone pain and limping, and the final diagnosis of ECD was based on evidence provided by her clinical presentation, imaging and biopsy of a lesion of the right ilium. The patient was treated with subcutaneous IFN-α at a dosage of 3 Χ 10(6) units three times weekly for 19 months. We thought that the treatment of IFN-α was safe and effective for the girl's clinical manifestations, and IFN-α might be a valuable first-line therapy for paediatric ECD.

La enfermedad Erdheim-Chester (ECD) es una enfermedad sistémica rara caracterizada por histocitosis de células no Langerhans, que afecta múltiples sistemas orgánicos. Se presenta más a menudo en adultos, siendo su ocurrencia pediátrica sumamente rara. El diagnóstico de ECD puede establecerse a partir de sus manifestaciones clínicas e imagen médica, pero su diagnóstico final debe basarse en la biopsia. El tratamiento de ECD incluye el uso de corticosteroides, radioterapia, quimioterapia, cirugía y trasplante de células madre hematopoyéticas. Sin embargo, es difícil determinar la eficacia de estos tratamientos. En la actualidad, se piensa que el tratamiento con interferon-α (IFN-α), es seguro y eficaz para ECD. Aquí reportamos el caso de una niña de 11 años, que fue ingresada al hospital debido a dolores óseos sistémicos y cojera. El diagnóstico final de ECD se basó en evidencias proporcionadas por sus manifestaciones clínicas, el uso de la imagen médica, y la biopsia de una lesión del ilion derecho.

Enfermedad de Erdheim-Chester. Una causa rara de derrame pericárdico: Caso clínico / Erdhei-Chester disease: Report of one case

We report a 76-year-old male who was admitted due to progressive congestive heart failure lasting several months. An echocardiogram showed a large pericardial effusion with early signs of pericardial tamponade and an irregular surface suggestive of cancer infiltration. The patient was operated, creating a pericardial window and draining 1,200 ml of a brownish yellow fluid with abundant cellularity. Pericardial biopsy showed infiltration by CD68 (+), CD1a (-) and S100 (-) cells. Twenty-eight months earlier, due to fatigue, dyspnea, and a non-specific inflammatory process, an enhanced-contrast-scan showed that aorta was coated with a hypodense tissue that began near the aortic valve and extended until the inferior mesenteric artery, with stenosis of the left subclavian, celiac axis, renal and upper mesenteric arteries. An angioplasty and stent placing was carried out in the last two arteries. Both kidneys had the appearance of "hairy kidneys". A bone scan showed increased uptake in femurs and tibiae and X-ray examination showed osteosclerosis in metaphysis and diaphysis. The diagnosis of Erdheim-Chester disease (non-Langerhans-cell histiocytosis) was made and the patient was treated with steroids and methotrexate.

Doença de Erdheim-Chester: relato de dois casos / Erdheim-Chester disease: a two-case report

A doença de Erdheim-Chester é uma rara histiocitose de células não-Langerhans, de etiologia desconhecida, que apresenta manifestações sistêmicas, atingindo ossos, sistema nervoso central, olhos, pulmões, mediastino, rins e retroperitônio. Relatamos dois casos que cursaram com a apresentação típica da doença. Os achados radiológicos foram concordantes com a literatura e orientaram a suspeita diagnóstica, confirmada pelo exame imuno-histoquímico.

Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis of unknown etiology, affecting multiple organ system, involving bones, central nervous system, eyes, lungs, mediastinum, kidneys and retroperitoneum. The authors report two cases that progressed with the typical presentation of the disease. Radiological findings were in agreement with literature and guided the diagnosis, confirmed by immunohistochemistry.

Acometimento intra-ocular na doença de Erdheim-Chester - primeiro relato na literatura: relato de caso / Intraocular involvement in Erdheim-Chester disease - first report in the literature: case report

A doença de Erdheim-Chester (DEC) tem causa desconhecida e se caracteriza por ser granulomatosa e infiltrativa, com proliferação de histiócitos contendo colesterol e particular acometimento ósseo. À histologia, é semelhante à histiocitose de células Langerhans, salvo na análise imuno-histoquímica. Pela primeira vez é descrito o acometimento intra-ocular nesta doença. MPSG, 46 anos, sexo feminino, apresentou-se com proptose do olho direto. Referia úlceras no palato duro, osteoesclerose bilateral e simétrica na diáfise tibial e fibular e nódulo na mama direita (biópsia: infiltrado rico em histiócitos xantomatosos e perfil imuno-histoquímico com CD68 +, S-100 e CD1a negativos, compatível com DEC). À RNM, tumoração extraconal justa-bulbar temporal superior na órbita direita, hiperintensa em T1 e próxima da glândula lacrimal. Em cada olho, visão 20/20, com numerosas drusas nas arcadas e na região macular similares às drusas laminares basais, além de duas regiões placóides elevadas com infiltrado alaranjado sub-retiniano e hiperfluorescentes na angiografia na região peridiscal inferior e justamacular temporal do olho direito. Dois anos depois, surgiram membranas neovasculares sub-retinianas em ambos os olhos. O OD manteve visão 20/20 com pequenas alterações campimétricas e o OE evoluiu com grande cicatriz disciforme e visão de vultos. Esta descrição pioneira demonstra características in vivo dos granulomas histiocíticos da DEC, e alerta para possíveis complicações intra-oculares.

Erdheim-Chester disease (ECD) is a granulomatous and infiltrative disorder of unknown etiology with proliferation of cholesterol-containing histiocytes and peculiar bone involvement. It is very similar to Langerhans cell histiocytosis (LCH) on histology but with a different immunohistochemical profile. This is the first report of intraocular involvement in this disease. MPSG, a 46 y.o. woman, presented with proptosis of the OD. She referred ulcerated lesions on the hard palate, symmetrical and bilateral osteosclerosis of the fibulae and tibiae and a nodule in the right breast (biopsy: xantomatous histiocytic infiltrate CD68+, S-100 and CD1a negative on immunohistochemistry compatible with ECD). MRI studies demonstrated an extraconal tumor in the juxta-bulbar temporal portion of the right orbit close to the lacrimal gland and hyperintense on T1. Vision was 20/20 OU, with numerous drusen in the posterior pole, similar to basal laminar drusen. Two regions of orange subretinal infiltrates that showed progressive staining on the angiogram were seen in the peripapillary region and also close to the fovea in the OD. Choroidal neovascular membranes were seen 2 years later in OU leading to severe visual loss in the OS and to a slight visual field loss in the OD, which retained 20/20 vision. This pioneer report depicts in vivo characteristics of histiocytic granulomas in ECD. Caution should be taken with patients with ECD as potentially blinding intraocular complications may arise.