Glaucoma neonatal secundario a xantogranuloma juvenil: caso clínico / Neonatal glaucoma associated with juvenile xanthogranuloma: Case report

Caso clínico: Varón de 22 días con xantogranulomatosis juvenil (XGJ) que comenzó con glaucoma unilateral y exudado fibrinohemorrágico que invadía ángulo en su ojo derecho. Pese a un alto nivel de sospecha, el diagnóstico definitivo no pudo realizarse hasta los 10 meses de vida tras la aparición y estudio anatomopatológico de las típicas lesiones cutáneas. Conclusión: La XGJ es una enfermedad poco frecuente caracterizada por lesiones cutáneas amarillentas en tronco, cuello o cabeza. Hasta el 10% de casos pueden presentar afectación ocular siendo la manifestación extracutánea más frecuente de la enfermedad (AU)

Case Report: The case concerns a 22 day-old male child with juvenile xanthogranuloma (JXG), which manifested as a unilateral glaucoma and with fibrinous haemorrhagic exudate in the anterior chamber affecting the angle of the right eye. Despite a high level of suspicion, the definitive diagnosis was not possible until the infant reached the age of 10 months, after the appearance of the skin lesions typical of this condition and histopathological study of them.Conclusion: JXG is a rare disease, characterised by yellowish skin lesions on the trunk, neck, or head. Up to 10% of cases will have ocular involvement, which is the most common extracutaneous manifestation of the disease (AU)

Neonatal glaucoma associated with juvenile xanthogranuloma: Case report. / Glaucoma neonatal secundario a xantogranuloma juvenil: caso clínico.

CASE REPORT: The case concerns a 22 day-old male child with juvenile xanthogranuloma (JXG), which manifested as a unilateral glaucoma and with fibrinous haemorrhagic exudate in the anterior chamber affecting the angle of the right eye. Despite a high level of suspicion, the definitive diagnosis was not possible until the infant reached the age of 10 months, after the appearance of the skin lesions typical of this condition and histopathological study of them. CONCLUSION: JXG is a rare disease, characterised by yellowish skin lesions on the trunk, neck, or head. Up to 10% of cases will have ocular involvement, which is the most common extracutaneous manifestation of the disease.

[A protocol for the treatment of retinopathy of prematurity in Spain]. / Protocolo de tratamiento de la retinopatía del prematuro en España.

OBJECTIVE: To prepare a protocol for the treatment of retinopathy of prematurity (ROP) agreed by the majority of Spanish ophthalmologists dedicated to this topic. MATERIAL AND METHOD: A draft of the protocol was produced taking into account the experience of the participants and up to date publications. This draft was corrected by all the ophthalmologists participating in the project, and the final document was agreed by all of them. RESULTS: We present general guidelines as an aid for the treatment of ROP, including treatment criteria, treatment methods, a calendar of action, and follow-up. CONCLUSIONS: It is important to have a common working protocol for the treatment of ROP to improve care and to avoid mistakes. Although individual Hospitals may adapt the protocol to their daily activity, it is recommended that there is a minimal working protocol agreed by most of professionals dedicated to pediatric ophthalmology in Spain.

Protocolo de tratamiento de la retinopatía del prematuro en España / A protocol for the treatment of retinopathy of prematurity in Spain

Objetivo: Realizar un protocolo de tratamiento de la retinopatía del prematuro (ROP) consensuado por la mayor parte de oftalmólogos españoles dedicados al tema. Material y método: Se realizó un borrador del protocolo según la experiencia de los participantes y las publicaciones actualizadas. Este borrador fue corregido por los participantes en el protocolo y se llegó al documento final consensuado por todos los participantes. Resultados: Se presentan las directrices generales para realizar el tratamiento de la ROP, incluyendo criterios de tratamiento, metodología de actuación, calendario de actuación y seguimiento. Conclusiones: Es importante disponer de un protocolo de actuación común en el tratamiento de la ROP para mejorar la actuación y evitar errores. Aunque cada centro hospitalario deba adaptar el protocolo a su actividad clínica, es recomendable que existan un mínimo de procedimientos consensuados por todos los oftalmólogos dedicados a la ROP (AU)

Objective: To prepare a protocol for the treatment of retinopathy of prematurity (ROP) agreed by the majority of Spanish ophthalmologists dedicated to this topic. Material and method: A draft of the protocol was produced taking into account the experience of the participants and up to date publications. This draft was corrected by all the ophthalmologists participating in the project, and the final document was agreed by all of them. Results: We present general guidelines as an aid for the treatment of ROP, including treatment criteria, treatment methods, a calendar of action, and follow-up. Conclusions: It is important to have a common working protocol for the treatment of ROP to improve care and to avoid mistakes. Although individual Hospitals may adapt the protocol to their daily activity, it is recommended that there is a minimal working protocol agreed by most of professionals dedicated to pediatric ophthalmology in Spain (AU)

Programa de cribado para la retinopatía del prematuro en España / Screening program for retinopathy of prematurity in Spain

Objetivo: Realizar un protocolo de cribado de la retinopatía del prematuro (ROP), consensuado por la mayor parte de oftalmólogos españoles dedicados al tema. Material y método: Se realizó un borrador del protocolo según la experiencia de los participantes y las publicaciones actualizadas. Este borrador fue corregido por los participantes en el protocolo y se llegó al documento final consensuado por todos los participantes. Resultados: Se presentan las directrices generales para realizar el cribado de la ROP, incluyendo criterios de inclusión y exclusión, metodología de exploración y calendario de actuación. Conclusiones: Es importante disponer de un protocolo de actuación común en el cribado de la ROP para mejorar la actuación y evitar errores. Aunque cada centro hospitalario deba adaptar el protocolo a su actividad clínica es recomendable que existan un mínimo de procedimientos consensuados por todos los oftalmólogos dedicados a la ROP (AU)

Objective: To prepare a retinopathy of prematurity (ROP) screening program as agreed by most of Spanish ophthalmologists dedicated to this topic. Material and method: A draft of the protocol was produced taking into account the experience of the participants and current publications. This draft was corrected by all the ophthalmologists participating in the project and the final document produced was agreed by all of them. Results: We present general guidelines to help in the screening of ROP, including treatment criteria, treatment methods, and a calendar of action. Conclusions: It is important to have a common working protocol in the screening of ROP to improve the action and to avoid mistakes. Although individual Hospitals may adapt the protocol to their daily activity, it is recommended that there is a minimal working protocol agreed by most of professionals dedicated to pediatric ophthalmology in Spain (AU)

Screening program for retinopathy of prematurity in Spain.

OBJECTIVE: To prepare a retinopathy of prematurity (ROP) screening program as agreed by most of Spanish ophthalmologists dedicated to this topic. MATERIALS AND METHODS: A draft of the protocol was produced taking into account the experience of the participants and current publications. This draft was corrected by all the ophthalmologists participating in the project and the final document produced was agreed by all of them. RESULTS: We present general guidelines to help in the screening of ROP, including treatment criteria, treatment methods, and a calendar of action. CONCLUSIONS: It is important to have a common working protocol in the screening of ROP to improve the action and to avoid mistakes. Although individual Hospitals may adapt the protocol to their daily activity, it is recommended that there is a minimal working protocol agreed by most of professionals dedicated to pediatric ophthalmology in Spain.

[Familiar chronic progressive external ophthalmoplegia of mitochondrial origin]. / Oftalmoplejía crónica progresiva externa familiar de origen mitocondrial.

INTRODUCTION: The syndrome of chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease characterized by ptosis and ophthalmoplegia has that has been associated to the presence of large deletion, single or multiple, in the mitochondrial DNA of skeletal muscle. CASE REPORT: We report a familiar case of chronic progressive external ophthalmoplegia of maternal inheritance that began at birth, and developed with slow progression but with no multisystemic involvement. Non of the affected individuals had ragged-red fibers in skeletal muscle. Genetic analysis of mitochondrial DNA revealed the presence of a single deletion of 4,977 bp that encompasses the nucleotide positions 8,482 to 13,460, flanked by a direct repeat sequence. CONCLUSIONS: The amount of deleted mitochondrial DNA (15%) in this patient's muscle suggests, even if the percentage of the mutation is low, that this deletion is the molecular cause of the phenotypic presentation of this patient. This is one of the few cases described in the literature of CPEO maternally inherited.

Oftalmoplejía crónica progresiva externa familiar de origen mitocondrial / Familiar chronic progressive external ophthalmoplegia of mitochondrial origin

Introducción. El síndrome de oftalmoplejía crónica progresiva externa (CPEO) es una enfermedad mitocondrial caracterizada por ptosis palpebral bilateral y parálisis de la musculatura oculomotora, que se ha asociado a la presencia de grandes deleciones, únicas o múltiples, en el ADN mitocondrial (ADNmt) del tejido muscular. Caso clínico. Presentamos un caso familiar de CPEO de herencia materna que comenzó desde el nacimiento, tanto en la madre como en el hijo, y que se desarrolló progresivamente sin afectación multisistémica. Ninguno de los afectados presenta fibras rojas rasgadas en el músculo esquelético. El análisis genético mostró la presencia de una deleción única de 4.977 pares de bases, comprendida entre los nucleótidos 8.482 y 13.460, flanqueada por una repetición directa en el ADNmt del hijo. Conclusiones. A pesar del bajo porcentaje de moléculas de ADNmt con la deleción en el músculo ocular de esta paciente (15 por ciento), se sugiere que dicha deleción es la causa molecular de su presentación fenotípica. Éste es uno de los pocos casos de CPEO de herencia materna (AU)

Introduction. The syndrome of chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease characterized by ptosis and ophthalmoplegia that has been associated to the presence of large deletion, single or multiple, in the mitochondrial DNA of skeletal muscle. Case report. We report a familiar case of chronic progressive external ophthalmoplegia of maternal inheritance that began at birth, and developed with slow progression but with no multisistemic involvement. Non of the affected individuals had ragged-red fibers in skeletal muscle. Genetic analysis of mitochondrial DNA revealed the presence of a single deletion of 4,977 bp that encompasses the nucleotide positions 8,482 to 13,460, flanked by a direct repeat sequence. Conclusions. The amount of deleted mitochondrial DNA (15%) in this patient’s muscle suggests, even if the percentage of the mutation is low, that this deletion is the molecular cause of the phenotypic presentation of this patient. This is one of the few cases described in the literature of CPEO maternally inherited (AU)

[Retinopathy of prematurity: casuistics between 1996 and 2001]. / Retinopatía del prematuro. Casuística de los años 1995-2001.

BACKGROUND: Retinopathy of prematurity (ROP) is a cause of neurosensorial morbidity. OBJECTIVES: To study the incidence, associated risks factors, treatment, and outcome of ROP in premature infants born at less than 32 weeks in our hospital. METHODS: We performed a descriptive study of patients born between the January 1, 1995, and December 31, 2001, in Sant Joan de Déu Hospital in Barcelona (Spain) at <= 32 weeks of gestation who survived until their first month of life. An ocular evaluation was performed between weeks 4 and 6 of life and was repeated every 1-2 weeks until retinal vascularization was complete. Ocular sequelae and visual function were evaluated. Bivariate comparison of groups with and without ROP was performed. RESULTS: Of the 324 patients evaluated, 74 presented ROP (22.8 %), of which 63 patients (21.7 %) were classified as stage 1 or 2 and 11 (3.7 %) as stage 3. An inverse correlation between the incidence of retinopathy and weight and gestational age was found. Threshold disease (3 plus) was detected in 9 patients (16 eyes; 3.1 % of the study sample and 12.1 % of the neonates with retinopathy). All of these neonates were treated with laser therapy. Ocular sequelae were mild in 2.7 % of the patients, moderate in 0.6 % and severe in 0.6 %. The visual function (n 236) of infants with ROP (n 74) was altered in 4 patients (1.7 %). Of these, alterations were severe in 2 patients (0.8 %). Bivariate analysis revealed significant differences (p < 0.001) in low birth weight, gestational age, days of oxygen therapy, days of mechanical ventilation, days of antibiotic therapy, and number of blood transfusions. CONCLUSIONS: In this study the incidence of ROP was similar to that in other centers. Development of ROP was strongly associated with its various risk factors. Severe stages were not seen above 30 weeks of gestational age. The results of laser therapy were optimal, with fewer alterations in ocular examination and visual function than those estimated in patients without treatment.

Retinopatía del prematuro. Casuística de los años 1995-2001 / Retinopathy of prematurity: casuistics between 1996 and 2001

Antecedentes: La retinopatía del prematuro (ROP) es una causa de morbilidad neurosensorial. Objetivos Estudiar la incidencia, factores de riesgo asociados, tratamiento y evolución de la retinopatía de la prematuridad en recién nacidos pretérmino menores de 32 semanas procedentes de nuestro hospital. Métodos: Pacientes nacidos entre 1 de enero de 1995 y 31 de diciembre de 2001 en el Hospital Sant Joan de Déu (Barcelona) con 32 semanas de edad gestacional, que han sobrevivido hasta el mes de vida. Se les realizó fondo de ojo entre las 4 y 6 semanas de vida, continuando con el examen cada 1-2 semanas, hasta su completa vascularización. Seguimiento evolutivo de las secuelas del fondo de ojo y función visual. Estudio descriptivo con comparación bivariable entre los grupos con y sin ROP. Resultados: De los 324 casos estudiados, 74 presentaron ROP (22,8 por ciento), de los cuales se clasificaron de estadios 1 y 2 a 63 pacientes (21,7 por ciento) y de estadio 3 a 11 (3,7 por ciento). Se evidenció una correlación inversa entre la incidencia de retinopatía y el peso o la edad gestacional. El estadio umbral (3 plus) se detectó en 9 casos (16 ojos) (3,1 por ciento de la muestra de estudio y 12,1 por ciento de los recién nacidos afectados de retinopatía) que se trataron con fotocoagulación con láser. Las secuelas del fondo de ojo fueron leves en el 2,7 por ciento de pacientes, moderadas en el 0,6 por ciento y graves en el 0,6 por ciento. La función visual (n 236) de los recién nacidos con ROP (n 74) se encontró alterada en 4 pacientes (1,7 por ciento de los explorados) de los cuales fue grave en 2 (0,8 por ciento). En el análisis bivariante, el bajo peso al nacer, la edad gestacional, días de oxigenoterapia y ventilación mecánica, días de antibiótico, número de transfusiones de sangre mostraron diferencias significativas (p < 0,001). Conclusiones: En este estudio la incidencia de ROP es similar a la de otros centros y se ve una fuerte asociación a distintos factores de riesgo para su aparición. No se observan estadios graves a partir de las 30 semanas. Los resultados de la fotocoagulación con láser son óptimos, con disminución de las secuelas en el fondo de ojo y en la función visual las estimadas sin tratamiento (AU)