RESUMO
La encefalomielitis diseminada aguda es una enfermedad inflamatoria-desmielinizante inmunomediada que suele manifestarse tras una infección o vacunación en niños en edad escolar. Típicamente presenta una fase prodrómica con un cuadro pseudogripal seguida de una fase con clínica muy variada, pudiendo aparecer alteraciones neurooftalmológicas como oftalmoplejía o neuritis óptica.La etiología es variada, incluyendo enfermedades tumorales, vasculares, infecciosas, inflamatorias y desmielinizantes. El diagnóstico se basa en la historia clínica y en las características de la resonancia magnética cerebral, prueba de imagen de elección. El estudio del líquido cefalorraquídeo puede servir de ayuda en la orientación del cuadro clínico.El pronóstico es favorable, con excelente respuesta a los corticoides e inmunoglobulinas y con mínimas secuelas a largo plazo en la mayoría de los casos.Presentamos el caso de un varón de 8años con enfermedad desmielinizante aguda por adenovirus cuya manifestación fue un síndrome del ocho y medio. (AU)
Acute disseminated encephalomyelitis is an immune mediated inflammatory-demyelinizing disease that usually manifests after infection or vaccination in school-age children. It typically presents a prodromal phase with flu-like symptoms, followed by a phase with varied clinical symptoms, neuro-ophthalmological alterations such as ophthalmoplegia or optic neuritis may occur.The differential diagnosis includes tumor, vascular, infectious, inflammatory and demyelinating diseases. Diagnosis is based on the clinical history and the characteristics of brain magnetic resonance imaging, the gold standard test. The study of the cerebrospinal fluid can help to guide the clinical picture.The prognosis is favorable, with an excellent response to corticosteroids and immunoglobulins, with minimal long-term sequelae in most cases.We report the case of an 8-year-old male with acute demyelinating disease due to adenovirus whose manifestation was an eight-and-a-half syndrome. (AU)
Assuntos
Humanos , Masculino , Criança , Encefalomielite Aguda Disseminada/diagnóstico , Encefalomielite Aguda Disseminada/virologia , Oftalmoplegia/virologia , Infecções por Adenoviridae/complicações , Tomografia Computadorizada por Raios X , Imageamento por Ressonância Magnética , SíndromeRESUMO
Acute disseminated encephalomyelitis is an immune mediated inflammatory-demyelinizing disease that usually manifests after infection or vaccination in school-age children. It typically presents a prodromal phase with flu-like symptoms, followed by a phase with varied clinical symptoms, neuro-ophthalmological alterations such as ophthalmoplegia or optic neuritis may occur. The differential diagnosis includes tumor, vascular, infectious, inflammatory and demyelinating diseases. Diagnosis is based on the clinical history and the characteristics of brain magnetic resonance imaging, the gold standard test. The study of the cerebrospinal fluid can help to guide the clinical picture. The prognosis is favorable, with an excellent response to corticosteroids and immunoglobulins, with minimal long-term sequelae in most cases. We report the case of an 8-year-old male with acute demyelinating disease due to adenovirus whose manifestation was an eight-and-a-half syndrome.
Assuntos
Infecções por Adenoviridae , Encefalomielite Aguda Disseminada , Encefalomielite , Masculino , Criança , Humanos , Encefalomielite Aguda Disseminada/diagnóstico por imagem , Encefalomielite Aguda Disseminada/etiologia , Adenoviridae , Encéfalo/patologia , Imageamento por Ressonância Magnética/métodos , Encefalomielite/patologiaRESUMO
Presentamos un caso de una paciente de 3 años de edad con diagnóstico de retinoblastoma en el ojo izquierdo. El curso de la enfermedad obligó a la enucleación de dicho ojo e implantación de una prótesis. Dos años tras la cirugía, se produjo una extrusión parcial de la prótesis en la cavidad anoftálmica y se decidió emplear un sustituto semisintético de duramadre para cubrir el defecto. El uso de un sustituto semisintético de duramadre en este escenario específico no ha sido comunicado previamente
We present a case report of a three-year old patient diagnosed with retinoblastoma in her left eye. The course of the disease made enucleation of the latter eye and a prosthesis implant necessary. Two years after surgery, partial prosthesis extrusion occurred and a semisynthetic dura mater substitute was used as a patch graft to cover the defect. To our knowledge, semisynthetic dura mater substitutes' use in this scenario has not been previously reported
Assuntos
Humanos , Feminino , Pré-Escolar , Anoftalmia/cirurgia , Dura-Máter , Enucleação Ocular , Próteses e Implantes , Neoplasias da Retina/cirurgia , Retinoblastoma/cirurgiaRESUMO
We present a case report of a three-year old patient diagnosed with retinoblastoma in her left eye. The course of the disease made enucleation of the latter eye and a prosthesis implant necessary. Two years after surgery, partial prosthesis extrusion occurred and a semisynthetic dura mater substitute was used as a patch graft to cover the defect. To our knowledge, semisynthetic dura mater substitutes' use in this scenario has not been previously reported.
Assuntos
Anoftalmia/cirurgia , Dura-Máter , Enucleação Ocular , Próteses e Implantes , Neoplasias da Retina/cirurgia , Retinoblastoma/cirurgia , Pré-Escolar , Feminino , HumanosRESUMO
El síndrome de Barber-Say es una infrecuente displasia producida por la mutación del gen TWIST2 (2q37.3) que codifica una proteína que actúa a nivel epigenético. Presentamos el caso de un niño de 2 días en el que el ectropion, el hipertelorismo, la hipertricosis y demás rasgos dismórficos condujeron al diagnóstico clínico de síndrome de Barber-Say, posteriormente confirmado genéticamente. Alrededor de 20 casos se han publicado sobre este síndrome; sin embargo, en menos de la mitad se describe la técnica para abordar las malformaciones palpebrales, lo que supuso un reto quirúrgico. Nuestra actuación incluyó una tarsorrafia lateral y la toma de injertos de piel de la superficie palmar del antebrazo, área retroauricular y fosa supraclavicular, así como injertos grasos de la superficie interna de ambos muslos para la reconstrucción palpebral. Se trata del primer caso de síndrome de Barber-Say en el que se utilizan injertos supraclaviculares y del antebrazo
Barber-Say syndrome is an unusual dysplasia caused by the mutation of the TWIST2 gene (2q37.3), which encodes a protein that acts at an epigenetic level. The case is presented of a 2-day-old male child in whom ectropion, hypertelorism, hypertrichosis and other dysmorphic features led to the clinical diagnosis of Barber-Say syndrome, which was later confirmed with genetic tests. Around 20 cases have been reported on this syndrome, of which less than half have described the surgical technique, as it represents a surgical challenge. The approach in this case included a lateral tarsorrhaphy and skin grafts taken from the volar surface of the forearm, retroauricular area and supraclavicular fossa, as well as autologous lipografts from the inner side of both thighs for palpebral reconstruction. This is the first case of Barber-Say syndrome in which the use of skin grafts are taken from supraclavicular fossa and forearms
Assuntos
Humanos , Masculino , Recém-Nascido , Ectrópio/cirurgia , Hipertelorismo/cirurgia , Hipertricose/cirurgia , Equipe de Assistência ao Paciente , Procedimentos de Cirurgia Plástica , Síndrome , Transplante de PeleRESUMO
Barber-Say syndrome is an unusual dysplasia caused by the mutation of the TWIST2 gene (2q37.3), which encodes a protein that acts at an epigenetic level. The case is presented of a 2-day-old male child in whom ectropion, hypertelorism, hypertrichosis and other dysmorphic features led to the clinical diagnosis of Barber-Say syndrome, which was later confirmed with genetic tests. Around 20 cases have been reported on this syndrome, of which less than half have described the surgical technique, as it represents a surgical challenge. The approach in this case included a lateral tarsorrhaphy and skin grafts taken from the volar surface of the forearm, retroauricular area and supraclavicular fossa, as well as autologous lipografts from the inner side of both thighs for palpebral reconstruction. This is the first case of Barber-Say syndrome in which the use of skin grafts are taken from supraclavicular fossa and forearms.
Assuntos
Blefaroplastia , Doenças Palpebrais/cirurgia , Hirsutismo/cirurgia , Hipertelorismo/cirurgia , Hipertricose/cirurgia , Macrostomia/cirurgia , Anormalidades da Pele/cirurgia , Humanos , Recém-Nascido , Masculino , Equipe de Assistência ao PacienteRESUMO
Objetivo: Describir los resultados anatómicos y funcionales obtenidos en un caso de neovascularización coroidea asociada a drusas papilares tras tratamiento antiangiogénico intravítreo. Caso clínico: Paciente varón de 8 años con diagnóstico de membrana neovascular en ojo derecho asociada a drusas papilares bilaterales. La agudeza visual al comienzo fue de cuenta dedos, mejorando hasta 0,4 tras tratamiento antiangiogénico. Se obtuvo una consolidación completa de la lesión sin complicaciones asociadas derivadas del tratamiento. Discusión/Conclusiones: El empleo de terapia antiangiogénica ha resultado efectivo y no se han evidenciado efectos secundarios en el tratamiento de membrana neovascular asociada a drusas en edad pediátrica
Purpose: To describe the anatomical and functional results of intravitreal antiangiogenic treatment in optic nerve head drusen associated with choroidal neovascularisation. Case report: An 8 year-old male patient with a diagnosis of neovascular membrane in the right eye associated with bilateral optic nerve head drusen. Best-corrected visual acuity (BCVA) was by counting fingers in the right eye and improved to 0.4 after antiangiogenic treatment. A complete consolidation of the lesion was observed with no associated complications arising from the treatment. Discussion/Conclusions: Antiangiogenic treatment is an effective option, and no side-effects have been observed in treatment of neovascular tissue associated with optic disc drusen in children
Assuntos
Humanos , Masculino , Criança , Neovascularização de Coroide/diagnóstico por imagem , Neovascularização de Coroide/tratamento farmacológico , Drusas do Disco Óptico/diagnóstico por imagem , Inibidores da Angiogênese/uso terapêutico , Drusas do Disco Óptico/fisiopatologia , Papiledema/diagnóstico por imagem , Bevacizumab/uso terapêutico , Acuidade VisualRESUMO
PURPOSE: To describe the anatomical and functional results of intravitreal antiangiogenic treatment in optic nerve head drusen associated with choroidal neovascularisation. CASE REPORT: An 8 year-old male patient with a diagnosis of neovascular membrane in the right eye associated with bilateral optic nerve head drusen. Best-corrected visual acuity (BCVA) was by counting fingers in the right eye and improved to 0.4 after antiangiogenic treatment. A complete consolidation of the lesion was observed with no associated complications arising from the treatment. DISCUSSION/CONCLUSIONS: Antiangiogenic treatment is an effective option, and no side-effects have been observed in treatment of neovascular tissue associated with optic disc drusen in children.
Assuntos
Inibidores da Angiogênese/uso terapêutico , Bevacizumab/uso terapêutico , Neovascularização de Coroide/tratamento farmacológico , Drusas do Disco Óptico/complicações , Criança , Neovascularização de Coroide/etiologia , Fibrose , Humanos , Injeções Intravítreas , Masculino , Papiledema/etiologia , Indução de Remissão , Hemorragia Retiniana/etiologia , Líquido Sub-Retiniano , Tomografia de Coerência ÓpticaRESUMO
CASO CLÍNICO: Niña de 11 años de edad con debilidad muscular progresiva debida a dermatomiositis y linfohistiocitosis hemofagocítica, en cuyo examen funduscópico se detectan múltiples exudados algodonosos, tortuosidad venosa y hemorragias en llama, lo que lleva al diagnóstico de retinopatía Purtscher-like. DISCUSIÓN: La retinopatía de Purtscher es una alteración microvascular de diagnóstico clínico y etiología probablemente embólica. Su tratamiento es controvertido, siendo los corticoides sistémicos como la elección más extendida
CASE REPORT: An 11 year-old girl with progressive muscle weakness due to dermatomyositis and hemophagocytic lymphohistiocytosis in which multiple cotton exudates, venous tortuosity and flame haemorrhages are detected in the funduscopic examination, leading to the diagnosis of Purtscher-like retinopathy. DISCUSSION: Purstcher's retinopathy is a microvascular disorder with clinical signs of probable thrombotic origin. Its treatment is controversial, with systemic corticosteroids being the most widespread choice
Assuntos
Humanos , Feminino , Criança , Doenças Retinianas/complicações , Doenças Retinianas/diagnóstico por imagem , Dermatomiosite/complicações , Linfo-Histiocitose Hemofagocítica/complicações , Biópsia , Acuidade Visual , Corticosteroides/uso terapêutico , Tomografia de Coerência Óptica/métodosRESUMO
Caso clínico: Un niño de 7 años con xeroderma pigmentoso presenta una recurrencia de un fibroxantoma atípico conjuntival después de 2 cirugías previas. En esta tercera intervención el paciente es tratado mediante escisión quirúrgica de la tumoración más crioterapia en el lecho. Por el riesgo de recurrencia se asoció en el postoperatorio mitomicina C 0,02% tópica con buen resultado clínico. Discusión: La exéresis quirúrgica con crioterapia y mitomicina C tópica es un tratamiento efectivo en el caso de un fibroxantoma atípico con alto potencial de recurrencia e invasión. Es necesario un seguimiento oftalmológico, así como pediátrico general en estos pacientes y asociar ayudas de apoyo (AU)
Case report: A 7 year-old boy with Xeroderma Pigmentosum (XP) and who presents a recurrent conjunctival atypical fibroxanthoma after two surgeries. This is the third procedure and the patient is treated with a surgical excision of the tumour and cryotherapy at the surgical bed. Due to the risk of recurrence, topical Mitomycin C 0,02% was added at post-operative care achieving a good clinical outcome. Discussion: Surgical exeresis with cryotherapy and topical Mitomycin C is an effective treatment for a case of an atypical fibroxanthoma with a high potential for recurrence and invasion. An ophthalmologic follow-up is required for these patients, as well as general paediatric care and support aids (AU)
Assuntos
Humanos , Masculino , Criança , Xantomatose/diagnóstico por imagem , Xantomatose/terapia , Neoplasias da Túnica Conjuntiva/diagnóstico por imagem , Neoplasias da Túnica Conjuntiva/terapia , Xeroderma Pigmentoso/diagnóstico por imagem , Xeroderma Pigmentoso/terapia , Xantomatose/tratamento farmacológico , Xantomatose/cirurgia , Túnica Conjuntiva/diagnóstico por imagem , Túnica Conjuntiva/patologia , Recidiva Local de Neoplasia/cirurgia , Porfiromicina/uso terapêutico , Mitomicina/uso terapêuticoRESUMO
CASE REPORT: An 11 year-old girl with progressive muscle weakness due to dermatomyositis and hemophagocytic lymphohistiocytosis in which multiple cotton exudates, venous tortuosity and flame haemorrhages are detected in the funduscopic examination, leading to the diagnosis of Purtscher-like retinopathy. DISCUSSION: Purstcher's retinopathy is a microvascular disorder with clinical signs of probable thrombotic origin. Its treatment is controversial, with systemic corticosteroids being the most widespread choice.
Assuntos
Cegueira/complicações , Dermatomiosite/complicações , Linfo-Histiocitose Hemofagocítica/complicações , Doenças Retinianas/complicações , Criança , Feminino , HumanosRESUMO
CASE REPORT: A 7 year-old boy with Xeroderma Pigmentosum (XP) and who presents a recurrent conjunctival atypical fibroxanthoma after two surgeries. This is the third procedure and the patient is treated with a surgical excision of the tumour and cryotherapy at the surgical bed. Due to the risk of recurrence, topical Mitomycin C 0,02% was added at post-operative care achieving a good clinical outcome. DISCUSSION: Surgical exeresis with cryotherapy and topical Mitomycin C is an effective treatment for a case of an atypical fibroxanthoma with a high potential for recurrence and invasion. An ophthalmologic follow-up is required for these patients, as well as general paediatric care and support aids.