Giant orbital leiomyoma in a pediatric patient: diagnostic and therapeutic challenge.

This manuscript describes an exceptional case of a long-standing orbital leiomyoma in a 14-year-old male. The tumor was unusually large, causing severe proptosis and significant involvement of the ocular muscles. The patient presented with amaurosis, complete ophthalmoplegia, spontaneous eye pain, and the inability to close the eyelids, leading to psychological distress. Due to the tumor's size and progression, a right orbital exenteration was performed to remove all orbital contents, including the tumor and the eyeball. The surgical procedure aimed to prevent tumor recurrence and improve the patient's quality of life. The histopathological analysis confirmed the diagnosis of orbital leiomyoma. This case presents a particular interest due to the degree of evolution it has reached. Complete tumor excision and long-term follow-up are necessary to prevent recurrence and ensure optimal patient outcomes. This report underscores global healthcare disparities and the complexity of managing rare orbital neoplasms in diverse country settings.

Exophthalmos and ocular pain as clinical debut of intracranial Hodgkin's lymphoma at diagnosis.

Intracranial involvement in Hodgkin's Lymphoma (HL) is extremely unusual, especially at the time of diagnosis. Because of its non-specific radiological behaviour, it can be confused with more common entities with a radically different prognosis. Pathologically, large and bi-nucleated cells, called Reed-Sternberg cells, embedded in an inflammatory network. In this report we describe the clinical case of a patient, with no medical history, with left ocular pain and exophthalmos as presetation of intracranial HL at diagnosis and review the most current literature. Intracranial involvement is often associated with extracranial disease. Therefore, a systemic study including body computed tomography, bone marrow biopsy and ophthalmological evaluation is necessary. Intracranial lesions respond favourably to treatment and the prognosis depends on the extracranial involvement. To date, there is no standardised management scheme for these patients. For us, the primary role of surgery in this context is to perform a biopsy to confirm the histological diagnosis.

Exoftalmos bilateral por compromiso orbitario debido a enfermedad relacionada con IgG4 / Bilateral exophthalmos due to orbital involvement due to IgG4-related disease

La enfermedad relacionada con IgG4 (ER-IgG4) se caracteriza por el compromiso fibrótico e infiltrado linfoplasmocitario con predominio de células IgG4 en uno o varios órganos. El fenotipo limitado a la cabeza y el cuello abarca el compromiso de las glándulas lagrimales y salivares, enfermedad orbitaria, paquimeningitis, hipofisitis, tiroiditis, mastoiditis y compromiso de senos paranasales. Las manifestaciones orbitarias pueden incluir proptosis uni o bilateral, miopatía cicatrizal de los músculos extraoculares, inflamación orbitaria y dolor que pueden simular a la oftalmopatía de Graves. La enfermedad oftálmica relacionada con IgG4 puede presentarse con compromiso de músculos extraoculares y de grasa orbitaria, y usualmente se confunde con afección orbitaria por enfermedad de Graves. Se presenta el caso de un varón de 58 años, con historia de exoftalmos bilateral de más de 15 años de evolución, en quien se arriba al diagnóstico de ER-IgG4 y cuya resonancia magnética de órbitas evidencia un patrón característico de compromiso de músculos extraoculares.

IgG4-related disease (IgG4-ER) is characterized by fibrotic involvement and lymphoplasmacytic infiltrate with IgG4 cells predominance in one or several tissues. The head and neck phenotype includes lacrimal and salivary gland involvement, orbital disease, pachymeningitis, hypophysitis, thyroiditis, mastoiditis, and sinus involvement. Orbital manifestations may include unilateral or bilateral proptosis, extraocular muscles scarring, orbital inflammation, and pain that may mimic Graves' ophthalmopathy. IgG4-related ophthalmic disease may present with extraocular muscles and orbital fat involvement and is often confused with orbital Graves' disease. We present the case of a 58-year-old man, with a history of bilateral exophthalmos of more than 15 years, in whom the diagnosis of IgG4-ER was reached and whose orbits magnetic resonance showed a characteristic pattern of extraocular muscle involvement.

Histiocitosis de células de Langerhans en su presentación focalizada en órbita. Revisión del tema a propósito de un caso / Langerhans cell histiocytosis in their orbitfocused presentation. Review of the topic regarding a case

Resumen Objetivo: Describir un caso de histocitosis de células de Langerhans en un paciente pediátrico. Método: Paciente de 4 años con proptosis, diplopía, fiebre y pérdida de agudeza visual, con imagen en tomografía computarizada evidente de masa orbitaria con erosión ósea. Se realizó biopsia excisional por craneotomía coronal, el resultado histopatológico fue histiocitosis de células de Langerhans. Resultados: El estudio anatomopatológico transoperatorio mostró una neoplasia de células pequeñas redondas y azules, compatible con rabdomiosarcoma. Las pruebas de inmunohistoquímica concluyeron el diagnóstico de histiocitosis de células de Langerhans. Conclusión: La histiocitosis de células de Langerhans es una enfermedad poco frecuente que requiere de una sospecha clínica y diagnóstico oportuno, adecuar el tratamiento y mejorar la sobrevida de los pacientes.

Abstract Objective: To describe a case of Langerhans cell histiocytosis in a pediatric patient. Method: A 4-year-old patient with proptosis, diplopia, fever and loss of visual acuity, with evident image in a computed tomography of orbital mass with bone erosion. An excisional biopsy was performed by coronal craniotomy. The histopathological result was Langerhans cell histiocytosis. Results: The anatomopathological study showed a neoplasm of small round and blue cells, compatible with Rhabdomyosarcoma. Immunohistochemical tests concluded the diagnosis of Langerhans cell histiocytosis. Conclusion: Langerhans cell histiocytosis is a rare disease that requires clinical suspicion and a timely diagnosis to adjust the treatment and improve the survival of patients.

Paquimeningitis y glomerulonefritis crescéntica en vasculitis p-ANCA / Pachymeningitis and crescentic glomerulonephritis in p-ANCA vasculitis

Resumen Las vasculitis asociadas a anticuerpos contra el citoplasma del neutrófilo configuran patologías multisistémicas caracterizadas por afectar pequeños vasos. Se ha descrito compromiso de sistema nervioso central en 2-8% de los casos, rara vez al inicio del cuadro clínico. Este corresponde al caso de un hombre de 67 años de edad con vasculitis p-ANCA, quien debutó con proptosis, paquimeningitis y disfagia severa. Posteriormente deterioro renal, necesidad de hemodiálisis, ciclofosfamida y recambio plasmático terapéutico con lo cual alcanza criterios de remisión parcial y egresa de diálisis. Las vasculitis ANCA se relacionan con una amplia gama de signos y síntomas inespecíficos. La edad de aparición, creatinina inicial y requerimiento de diálisis, son factores pronósticos. El inicio oportuno del tratamiento es fundamental, requiriendo por tanto un alto índice de sospecha. (Acta Med Colomb 2018; 43: 107-110).

Abstract Vasculitis associated with antibodies against the neutrophil cytoplasm they form multisystemic pathologies characterized by affecting small vessels. Central nervous system involvement has been described in 2 - 8% of cases, rarely at the beginning of the clinical picture. This corresponds to the case of a 67-year-old man with p-ANCA vasculitis, who debuted with proptosis, pachymeningitis and severe dysphagia. Subsequently, renal deterioration, the need for hemodialysis, cyclophosphamide and therapeutic plasma exchange, with which it reaches criteria of partial remission and dialysis discharge. ANCA vasculitis is associated with a wide range of nonspecific signs and symptoms. The age of onset, initial creatinine and dialysis requirement are prognostic factors. The timely initiation of treatment is fundamental, requiring therefore a high index of suspicion. (Acta Med Colomb 2018; 43: 107-110).

Presentación atípica de un prolactinoma gigante en un adolescente de 15 años / Atypical presentation of a giant prolactinoma in a 15-year-old boy

El prolactinoma gigante es un adenoma pituitario poco frecuente caracterizado por su gran invasión local. Se reporta el caso de un varón de 15 años de edad con dolor retroocular izquierdo y exoftalmos ipsilateral de 4 meses de evolución secundario a un tumor en la base del cráneo que invadía la órbita. Los estudios hormonales revelaron prolactina sérica de 6913,7 ng/ml (valor normal < 20), que confirmó el diagnóstico de prolactinoma gigante. El paciente inició un tratamiento con el agonista dopaminérgico cabergolina en dosis crecientes. Luego de 7 meses de seguimiento, la prolactina había descendido a 349,8 ng/ml y el volumen del tumor se redujo un 70%, sin efectos adversos al tratamiento. El paciente se encontraba asintomático y había reiniciado la pubertad. La rápida remisión de los síntomas sin necesidad de tratamientos invasores subraya la importancia de considerar el diagnóstico de prolactinoma entre los posibles diagnósticos diferenciales de tumor de la base del cráneo.

Giant prolactinomas are rare pituitary adenomas characterized by their great local invasion. In this paper, we report a 15-year-old male with left retro-ocular pain and ipsilateral exophthalmos of 4 months of evolution, secondary to a tumour in the base of the skull that invaded the orbit. Hormonal studies revealed serum prolactin of 6913,7 ng/ml (normal value < 20), confirming the diagnosis of giant prolactinoma. The patient started treatment with the dopaminergic agonist cabergoline in increasing doses. After 7 months of follow-up the prolactin had decreased to 349.8 ng/ml and the tumor volume was reduced by 70%, without presenting adverse effects to the treatment. The patient was asymptomatic and had restarted puberty. The rapid remission of symptoms without the need for invasive treatments underlines the importance of considering the diagnosis of prolactinoma among the possible differential diagnoses of tumor of the skull base.

Orbitopatía asociada al tiroides en edades pediátricas / Thyroid-associated orbinopathy at pediatric ages

La enfermedad de Graves es rara en los niños y adolescentes, y aunque cursa con una clínica bastante florida, no siempre se piensa en este diagnóstico, y en no pocas ocasiones llegan a la consulta de Endocrinología remitidos de servicios de Psicología y/o Psiquiatría por un predominio de alteraciones conductuales (hiperquinesia, irritabilidad). La afección ocular puede aparecer en relación o no con los estados de hipertiroidismo, y se presenta en muchos casos con el paciente eutiroideo, por lo que se nombra actualmente orbitopatía asociada al tiroides. Es una enfermedad autoinmune y autolimitada que afecta el tejido conectivo, y su evolución es menos grave que en el adulto. El tratamiento de esta entidad es muy particularizado en las edades pediátricas, debido a que las modalidades terapéuticas por sí mismas no cumplen todos los criterios de efectividad y seguridad. Teniendo en cuenta el grado y la severidad de la orbitopatía se establecen los protocolos de atención. Es válido señalar que en estas edades -por lo general- se presentan formas leves o moderadas. Existen tres líneas de tratamiento: el medicamentoso, con antitiroideos de síntesis; el iodo radiactivo solo, o combinado con terapia esteroidea; o la extirpación quirúrgica de la glándula tiroides. En niños es muy raro que se llegue a la cirugía orbitaria. Con el objetivo de reagrupar información actualizada sobre este tema se presenta esta revisión(AU)

Graves´ disease is rare in children and adolescents, and although it develops with a fairly abundant clinic, this diagnosis is not always taken into account and in many occasions, the patients are referred to the endocrinology service from the psychology and /or psychiatry service because of predominant behavioral alterations (hyperkinesia, irritability). This eye disease may appear, either associated or not, to the conditions of hyperthyroidism, and it occurs many times in the euthyroid patient, so it is presently called thyroid-associated orbinopathy. It is an autoimmune, autolimited disease affecting the connective tissue and its progression is less severe than in the adult. The treatment is very particularized at pediatric ages because the therapeutic modalities as such do not meet all the required effectiveness and safety criteria. Taking into account the degree and the severity of orbinopathy, the respective care protocols are set. Generally speaking, it is worthwhile to point out that at these ages; there are moderate or slight forms of disease. There are also three lines of treatment: medication with synthesis anti-thyroid; the radioiodine therapy alone or in combination with steroidal therapy; and the surgical excision of the thyroid gland. It is very uncommon that a child undergoes orbital surgery. The objective of this review was to reorganize updated information about this topic(AU)

Diplopia due to barotrauma.

CASE REPORT: A 38-year-old woman who, during a scuba dive at 7 metres, suffered from eye pain, hyperaemia, and exophthalmos. She was diagnosed with ocular barotrauma with transient diplopia. She was seen in the emergency room 10 days later, with no diplopia, but mild left proptosis. In the computed tomography an image of extraconal occupation is observed in the left orbital roof. The magnetic resonance confirmed an intraorbital haematoma. DISCUSSION: Ocular barotrauma is usually a benign condition mostly occurring in an inexperienced diver. However, a detailed examination is important to rule out potential vision and life threatening conditions.

Optic neuropathy secondary to a sphenoid-ethmoidal mucocele: Case report.

CASE REPORT: The case is presented of a 51-year old male patient with a history of blunt trauma in the frontal region and a one-year history of vision loss, proptosis and paresis of the lateral rectus muscle of the right eye. A right ethmoid and bilateral sphenoid mucocele was diagnosed. Drainage was performed using an external and endoscopic approach with improvement in symptoms without recurrence at 10 months. DISCUSSION: Sphenoid mucoceles represent 1% of all mucoceles and may present with different clinical manifestations. Surgical excision is the treatment of choice, and early intervention is indicated to prevent complications.

[Schinzel-Giedion syndrome: a new mutation in SETBP1]. / Síndrome Schinzel-Giedion: nueva mutación en SETBP1.

Schinzel-Giedion syndrome (SGS) (#MIM 269150) is a rare genetic disorder characterized by very marked craniofacial dysmorphism, multiple congenital anomalies and severe intellectual disability. Most affected patients die in early childhood. SETBP1 was identified as the causative gene, but a limited number of patients with molecular confirmation have been reported to date. The case is reported of a 4 and a half year-old male patient, affected by SGS. SETBP1 sequencing analysis revealed the presence of a non-previously described mutation: c.2608G>T (p.Gly870Cys). The clinical features and differential diagnosis of this rare condition are reviewed. Dysmorphic features are strongly suggestive of SGS. Its clinical recognition is essential to enable an early diagnosis, a proper follow-up, and to provide the family with genetic counseling. To date, this is the seventeenth SGS patient published with SETBP1 mutation, and the first in Spain, helping to widen clinical and molecular knowledge of the disease.

[Juvenile nasopharyngeal angiofibroma with orbital extension]. / Angiofibroma nasofaríngeo juvenil con extensión orbitaria.

CLINICAL CASE: The case is presented of a 21 year-old male with a history of left proptosis and diplopia of two weeks of onset. The MRI showed an ethmoid-orbital vascular lesion with anterior skull base invasion and orbital extension. Biopsy of the ethmoid confirmed fibrovascular tissue, which supported the diagnosis of angiofibroma. DISCUSSION: It is a benign neoplasm with local characteristics of malignancy due to its ability to invade adjacent areas. In this case, the debut presented with manifestations of orbital extension. A broad and multidisciplinary approach is needed in order to improve prognosis.

Orbital involvement by non-Hodgkin lymphoma NK T cells.

CLINICAL CASE: The case is presented of 37 year-old male with a history of nasal obstruction with right rhinorrhea, headache, hearing loss and right exophthalmos of 4 months progression. The MRI revealed that the ethmoidal and maxillary sinuses contained inflammatory tissue extending into the orbital region. The biopsy confirmed a non-Hodgkin lymphoma of natural killer (NK) T cells. DISCUSSION: Non-Hodgkin's T NK lymphoma is a rare tumor in the orbital area that requires an early detection and multi-disciplinary care to ensure appropriate monitoring and treatment.

Fisiopatología del exoftalmos endocrino: Aspectos históricos / Pathophysiology of Endocrine Exophthalmos

La fisiopatología del exoftalmos endocrino ha ido evolucionando a lo largo del tiempo. En primer lugar fue necesario que los trabajos originales de Graves y de Basedow asociaran la alteración ocular con la disfunción tiroidea. Estudios complementarios demostraron que el exoftalmos también se puede observar en pacientes con Tiroiditis de Hashimoto. Estudios posteriores han demostrado la presencia de una sustancia o factor al que denominaron Factor exoftalmizante en el suero de pacientes. La demostración experimental de que se podía producir exoftalmos por un mecanismo autoinmune y la demostración de la presencia de un estimulador tiroideo de acción prolongada (LATS) llevó al concepto actual acerca de la participación de un mecanismo inmunológico en la fisipatología de esta afección. Los autores declaran no poseer conflictos de interés.

The pathophysiology of endocrine exophthalmos has changed with the advances of Medicine. Described for the first time associated with hyperthyroidism by Graves and von Basedow, further studies demonstrated that it also may occur in patients with autoimmune thyroiditis. It is caused by the increase of retro ocular tissue volume. An exophthalmos producing substance (EPS) was found in the serum of those patients. The experimental demonstration that exophthalmos may be prduced by an autoimmune mechanism, and the finding that a circulating immunoglobulin, the Long Acting Thyroid Stimulator (LATS) is the cause of Graves disease, led to the present concept on the pathogrenesis of this disease The authors do not have conflicts of interest.

Espessamento do tendão muscular na oftalmopatia de Graves / Muscle tendon enlargment in Graves´ophthalmopathy

OBJETIVO: Estudar a frequência do espessamento do tendão muscular em pacientes com oftalmopatia de Graves buscando estabelecer correlações com as diferentes formas clínicas da doença. A diversidade clínica e laboratorial na oftalmopatia de Graves pode levar à confusão quanto ao diagnóstico, conduta e prognóstico. Os achados radiológicos variam desde o aumento isolado do tecido adiposo até o espessamento da musculatura extraocular, caracteristicamente poupando os tendões. Em 2004,no entanto, Ben Simon descreveu o espessamento do tendão muscular na oftalmopatia de Graves. MÉTODOS: Foram avaliados 20 pacientes, de ambos os sexos, com idades entre 20 e 80 anos, com formas clínicas designadas como :forma benigna (retração palpebral),forma intermediária (diplopia na posição primária do olhar) e forma maligna ou infiltrativa (sinais de comprometimento do nervo óptico).Todos os pacientes foram submetidos à tomografias computadorizadas de órbita. Os pacientes estavam eutiroideanos, há pelo menos um ano. Os padrões tomográficos foram estudados e divididos em dois grupos: com e sem espessamento dos tendões da musculatura extraocular. RESULTADOS: Uma relação estatisticamente significativa entre espessamento do tendão e a forma clínica intermediária foi encontrada (p <0,012). CONCLUSÃO: O espessamento do tendão extraocular, encontrado em 30 por cento dos pacientes com oftalmopatia de Graves, relaciona-se positivamente com a forma intermediária da doença, caracterizada pela presença de diplopia e que constitui um achado de grande valor clínico.

PURPOSE: The aim is therefore to study the frequency of tendon enlargment in Graves' ophthalmopathy, seeking to estabilish its clinical correlations. Clinical and laboratory diversity in Graves' Ophthalmopathy sometimes may mislead its diagnosis. Radiological findings are more reliable for the diagnosis of Graves' Ophthalmopathy. Since then, a number of patterns have been described. Extraocular muscle involvement in this pathology is considered as always sparing the tendons. In 2004, Ben Simon described extraocular muscles tendon enlargment in some patients with diplopia in Graves' orbitopathy. METHODS: 20 patients, aged between 20 and 80 years, of both sexes, designated as benign (eyelid retraction), intermediate(diplopia in primary sight position) and malignant or infiltrative(signs of optic nerve compromise) forms were evaluated by orbital tomography. All patients had already been euthyroidean for at least one year. Tomographic patterns were studied and divided into two groups: with or without extraocular muscle tendons enlargment. RESULTS: Statistically significant relationship was found between tendon enlargment and intermediate form (p<0.012). CONCLUSION: Extraocular tendon involvement present in 30 percent of the patients with Graves' ophthalmopathy, and is positively correlated to intermediary form of the disease, characterized by diplopia, a very important clinical landmark.

Retinoblastoma unilateral estadio III en pre-escolar: a propósito de un caso Hospital Central Dr. José María Vargas San Cristobal marzo 2008 Edo. Táchira-Venezuela / Unilateral retinoblastoma stage III in pre-school: a purpose of case Hospital Central Dr. José María Vargas San Cristobal in march 2008 state Táchira-Venezuela

El retinoblastoma comprende el 4 por ciento de tumoraciones malignas en edad pediátrica con una incidencia de 1 por cada 20000 niños vivos y en USA se presenta por año entre 250-300 niños, 50-95 por ciento sobreviven a nivel mundial, no hay predisposición por sexo o raza y entre ellos 25-35 por ciento se presentan en forma bilateral, la edad aproximada para el diagnóstico varia en las formas unilaterales alrededor de los 12 meses hasta las formas bilaterales a los 24 meses. Preescolar femenino de 4 años de edad natural de Socopó, procedente de El Piñal quien inicia enfermedad actual de 2 años de evolución caracterizada por la presencia de masa tumoral en ojo izquierdo la cual se incrementa en los últimos 4 meses llegando hasta la protrusión del globo ocular y de 6 días limitación para la oclusión, rubor en párpado superior izquierdo y fiebre. Asimetría ocular, protrusión del globo ocular izquierdo, limitación para la apertura, hifema y no se visualiza córnea, pupilas ni el iris. Es evaluada por el servicio de Oftalmología: OI: Blefarospasmo reactivo, eritema bipalpebral y edema que limitan la apertura ocular. Biomicrooscopia: Quemosis conjuntival en 360 con salida de secreción purulenta a nivel temporal de la conjuntiva, pannus corneal periférico en banda cálcica, opacidad de medios transparentes. LDH 267 UI/I. Ultrasonido Ocular: globo ocular izquierdo: faquico, con lesión sólida localizada en pared ocular extendiéndose anteriormente, sin movilidad, con ecos de alta reflectividad en su interior con sombrado posterior de pared ocular. TAC de cráneo y órbita: imagen radiólucida que infiltra globo ocular izquierdo sin compromiso del nervio óptico, resto sin anormalidad, TAC de tórax y abdomen: normal, Ecosonograma Abdominal: normal, Gammagrama Óseo: normal. Se realizó exanteración de la órbita del globo ocular izquierdo. Biopsia que microscópicamente evidencia tumor infiltra todas las capas con microscopia donde evidencia pseudoresetas en masa tumoral.