ABSTRACT
CASO CLÍNICO: Paciente de 5 años de edad remitido para valoración oftalmológica con el diagnóstico de déficit de 3-hidroxiacil-CoA deshidrogenasa de cadena larga. Presentaba como antecedente la aparición de crisis metabólicas agudas precipitadas por infecciones banales y rabdomiólisis. El examen oftalmoscópico reveló una atrofia coriorretiniana peripapilar y una maculopatía granular difusa. La agudeza visual era de 6/6 en ambos ojos y las pruebas electrofisiológicas normales. DISCUSIÓN: Se realiza una revisión de la bibliografía y los conocimientos recientes de esta enfermedad mediante la descripción de un caso clínico documentando los hallazgos obtenidos mediante autofluorescencia y tomografía de coherencia óptica para mejorar el conocimiento existente sobre ella
CLINICAL CASE: A five-year-old patient, with a diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, was referred for an ophthalmological examination. He had a history of acute metabolic crises precipitated by intercurrent infections,as well as rhabdomyolysis. The fundoscopic examination revealed a peripapillary chorioretinal atrophy and a diffuse granular appearance of the macular retinal pigment epithelium. Best corrected visual acuity was 6/6 in both eyes, and he had a normal electroretinography test. DISCUSSION: We perform a review of the literature and recent findings in relation to this disease through the description of a clinical case in order to improve the knowledge of this uncommon disorder
Subject(s)
Humans , Male , Child , 3-Hydroxyacyl CoA Dehydrogenases/administration & dosage , 3-Hydroxyacyl CoA Dehydrogenases/analysis , 3-Hydroxyacyl CoA Dehydrogenases/deficiency , Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase/analysis , Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase/deficiency , Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase/metabolism , Fatty Acids/analysis , Fatty Acids/physiology , Fatty Acids/therapeutic use , Early Diagnosis , Central Serous Chorioretinopathy/etiology , Central Serous Chorioretinopathy/pathology , Central Serous Chorioretinopathy/prevention & controlABSTRACT
CLINICAL CASE: A five-year-old patient, with a diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, was referred for an ophthalmological examination. He had a history of acute metabolic crises precipitated by intercurrent infections,as well as rhabdomyolysis. The fundoscopic examination revealed a peripapillary chorioretinal atrophy and a diffuse granular appearance of the macular retinal pigment epithelium. Best corrected visual acuity was 6/6 in both eyes, and he had a normal electroretinography test. DISCUSSION: We perform a review of the literature and recent findings in relation to this disease through the description of a clinical case in order to improve the knowledge of this uncommon disorder.
Subject(s)
Cardiomyopathies , Lipid Metabolism, Inborn Errors , Mitochondrial Myopathies , Mitochondrial Trifunctional Protein/deficiency , Nervous System Diseases , Rhabdomyolysis , Cardiomyopathies/diagnostic imaging , Child, Preschool , Humans , Lipid Metabolism, Inborn Errors/diagnostic imaging , Male , Mitochondrial Myopathies/diagnostic imaging , Nervous System Diseases/diagnostic imaging , Rhabdomyolysis/diagnostic imagingABSTRACT
Método: Se trataron a 12 pacientes con xantelasmas bilaterales mediante láser CO2 ultrapulsado. Todos fueron extirpados, sin diferencias entre el párpado superior e inferior. No hubo ectropión, ni sangrado. Todos los pacientes expresaron un gran nivel de satisfacción. Discusión: La utilización del láser CO2 es una opción terapéutica buena para tratar xantelasmas, especialmente los localizados en párpado inferior y en gente joven. Es un tratamiento seguro para regiones delicadas de la periórbita: el riesgo de cicatrices visibles es bajo y hay menos recurrencias. La técnica se puede realizar sin quirófano, evitando con ello la ansiedad que se crea con una intervención quirúrgica (AU)
Method: We treated 12 patients with bilateral xanthelasmas using an ultra-pulse CO2 laser. They were all extirpated, with no differences between the upper and lower eyelids. There were no cases of ectropion or bleeding. All the patients expressed a high level of satisfaction. Discussion: The use of the laser CO2 is a good therapeutic option for treating xanthelasmas especially those located in the lower eyelid, and in young people. It is a safe treatment for delicate periorbital regions, with a low risk of visible scars, and fewer recurrences. The technique can be performed outside the operating room avoiding the anxiety that is created by surgical intervention (AU)
Subject(s)
Humans , Eyelids/surgery , Laser Therapy/methods , Lasers, Gas/therapeutic use , Blepharoplasty/methods , Postoperative Complications/epidemiologyABSTRACT
METHOD: We treated 12 patients with bilateral xanthelasmas using an ultra-pulse CO2 laser. They were all extirpated, with no differences between the upper and lower eyelids. There were no cases of ectropion or bleeding. All the patients expressed a high level of satisfaction. DISCUSSION: The use of the laser CO2 is a good therapeutic option for treating xanthelasmas especially those located in the lower eyelid, and in young people. It is a safe treatment for delicate periorbital regions, with a low risk of visible scars, and fewer recurrences. The technique can be performed outside the operating room avoiding the anxiety that is created by surgical intervention.
Subject(s)
Eyelid Diseases/surgery , Lasers, Gas/therapeutic use , Xanthomatosis/surgery , Adult , Aged , Female , Humans , Male , Middle Aged , Ophthalmologic Surgical Procedures/methodsABSTRACT
INTRODUCTION: Lymphangioma is a malformation of the lymphatic system. The classic approach is surgery. We report a case of orbital lymphangioma in a girl who was given OK-432 to avoid surgery and its complications. DISCUSSION: OK-432 is a lyophilized mixture of group A Streptococcus pyogenes which produces a fibrosis limited to the lesion with a high cure rate. The main advantages are the easy intra-lesional application. with no scars and or damage of closed areas. Its main disadvantage is a significant local inflammatory reaction.
Subject(s)
Antineoplastic Agents/therapeutic use , Lymphangioma/drug therapy , Orbital Neoplasms/drug therapy , Picibanil/therapeutic use , Sclerosing Solutions/therapeutic use , Adolescent , Adrenal Cortex Hormones/therapeutic use , Antineoplastic Agents/adverse effects , Blepharoptosis/etiology , Eyelid Diseases/chemically induced , Female , Hematoma/chemically induced , Humans , Lymphangioma/complications , Lymphangioma/diagnosis , Magnetic Resonance Imaging , Orbital Neoplasms/complications , Orbital Neoplasms/diagnosis , Picibanil/adverse effects , Sclerosing Solutions/adverse effects , Treatment FailureABSTRACT
Introducción: El linfangioma es una malformación linfática cuyo tratamiento habitual ha sido la cirugía. Se aporta un caso de linfagioma orbitario en una niña a la que se trató con OK-432 intralesional para evitar la cirugía y sus complicaciones. Discusión: El OK-432 es una mezcla liofilizada de Streptococcus pyogenes del grupo A. que produce una fibrosis circunscrita de la lesión con una alta tasa de curación. Sus principales ventajas son su fácil aplicación intralesional y la falta de cicatrices y lesiones a las estructuras adyacentes de la lesión. Aunque su gran inconveniente es la gran reacción inflamatoria local que provoca(AU)
Introduction: Lymphangioma is a malformation of the lymphatic system. The classic approach is surgery. We report a case of orbital lymphangioma in a girl who was given OK-432 to avoid surgery and its complications. Discussion: OK-432 is a lyophilized mixture of group A Streptococcus pyogenes which produces a fibrosis limited to the lesion with a high cure rate. The main advantages are the easy intra-lesional application. with no scars and or damage of closed areas. Its main disadvantage is a significant local inflammatory reaction(AU)
