Neurological manifestations of neurofibromatosis type 1: our experience.

INTRODUCTION: Neurofibromatosis type 1 (NF1) is a progressive multisystem disorder following an autosomal dominant inheritance pattern that presents with multiple neurological manifestations. METHODS: We reviewed medical histories of patients with NF1 followed up at our hospital's paediatric neurology department from May 1990 to 31 December 2018. We collected data on neurological symptoms. RESULTS: A total of 128 patients with NF1 were identified. Mean age (SD) at NF1 diagnosis was 4.43 (3.38) years (range, 0.5-14.5 years). There was a slight female predominance (53.1%). Macrocephaly (head circumference over 2 SDs above average for age) was present in 37.5% of cases. Attention-deficit/hyperactivity disorder was recorded in 28.9% of patients (37): combined type in 20 patients, predominantly inattentive in 15, and predominantly impulsive/hyperactive in 2. Other manifestations included headache (18.6%), cognitive impairment (7.8%), motor deficit (6.2%), and epilepsy (4.68%). Brain MRI was performed in 85 patients, revealing T2-weighted hyperintensities in the basal ganglia and/or cerebellum in 60 patients (70.5%), Chiari malformation type 1 in 4 cases, and arachnoid cysts in 3. Optic nerve gliomas were identified by MRI in 22 patients (25.8%). Other MRI findings included plexiform neurofibromas (9.3%) and central nervous system gliomas (3.1%). CONCLUSIONS: The neurological manifestations identified in our sample are consistent with those reported in the literature. Effective transfer strategies from paediatric neurology departments and subsequent clinical follow-up by adult neurology departments are needed to prevent loss to follow-up in adulthood.

Manifestaciones neurológicas en neurofibromatosis tipo 1. Nuestra experiencia / Neurological manifestations of neurofibromatosis type 1: our experience

Introducción: La neurofibromatosis tipo 1 (NF1) es un desorden progresivo multisistémico de herencia autosómica dominante que presenta numerosas manifestaciones neurológicas. Métodos: Revisión de historias clínicas de pacientes afectos de NF1 controlados en una Unidad de Neuropediatría de mayo de 1990 a 31 de diciembre de 2018 y sus manifestaciones neurológicas asociadas. Resultados: Se revisaron 128 pacientes afectos de NF1. Edad media al diagnóstico de NF1, 4,43 años ± 3,38 SDS (rango 6 meses-14,5 años) con discreto predominio femenino (53,1%). Se asocia macrocefalia (PC> 2SDS) en el 37,5% de los casos. TDAH en el 28,9% de los casos (37), subtipo combinado 20, inatento 15 casos y predominantemente hiperactivo 2 casos. Otras manifestaciones incluyen; cefalea (18,7%), déficit cognitivo (7,8%), afectación motora (6,2%) y epilepsia (4,68%). Se realizó RM cerebral a 85 pacientes, mostrando 60 (70,5%) hiperseñales en T2 en ganglios basales y/o cerebelo, junto con otras alteraciones como Chiari I (4 casos) y quistes aracnoideos (3 casos). Se identificaron gliomas de nervio óptico en 22 casos (25,8%). Otros hallazgos diagnosticados por RM incluyen neurofibromas plexiformes (9,3%) y otros gliomas localizados en sistema nervioso central (3,1%). Conclusiones: Las manifestaciones neurológicas encontradas concuerdan con lo recogido en la literatura. El seguimiento de estos pacientes se pierde en la edad adulta, siendo necesario establecer adecuadas estrategias de transferencia y posterior seguimiento de pacientes a los servicios de adultos. (AU)

Introduction: Neurofibromatosis type 1 (NF1) is a progressive multisystem disorder following an autosomal dominant inheritance pattern that presents with multiple neurological manifestations. Methods: We reviewed medical histories of patients with NF1 followed up at our hospital's paediatric neurology department from May 1990 to 31 December 2018. We collected data on neurological symptoms. Results: A total of 128 patients with NF1 were identified. Mean age (SD) at NF1 diagnosis was 4.43 (3.38) years (range, 0.5-14.5 years). There was a slight female predominance (53.1%). Macrocephaly (head circumference over 2 SDs above average for age) was present in 37.5% of cases. Attention-deficit/hyperactivity disorder was recorded in 28.9% of patients (37): combined type in 20 patients, predominantly inattentive in 15, and predominantly impulsive/hyperactive in 2. Other manifestations included headache (18.6%), cognitive impairment (7.8%), motor deficit (6.2%), and epilepsy (4.68%). Brain MRI was performed in 85 patients, revealing T2-weighted hyperintensities in the basal ganglia and/or cerebellum in 60 patients (70.5%), Chiari malformation type 1 in 4 cases, and arachnoid cysts in 3. Optic nerve gliomas were identified by MRI in 22 patients (25.8%). Other MRI findings included plexiform neurofibromas (9.3%) and central nervous system gliomas (3.1%). Conclusions: The neurological manifestations identified in our sample are consistent with those reported in the literature. Effective transfer strategies from paediatric neurology departments and subsequent clinical follow-up by adult neurology departments are needed to prevent loss to follow-up in adulthood. (AU)

Neurological manifestations of neurofibromatosis type 1: our experience. / Manifestaciones neurológicas en neurofibromatosis tipo 1. Nuestra experiencia.

INTRODUCTION: Neurofibromatosis type 1 (NF1) is a progressive multisystem disorder following an autosomal dominant inheritance pattern that presents with multiple neurological manifestations. METHODS: We reviewed medical histories of patients with NF1 followed up at our hospital's paediatric neurology department from May 1990 to 31 December 2018. We collected data on neurological symptoms. RESULTS: A total of 128 patients with NF1 were identified. Mean age (SD) at NF1 diagnosis was 4.43 (3.38) years (range, 0.5-14.5 years). There was a slight female predominance (53.1%). Macrocephaly (head circumference over 2 SDs above average for age) was present in 37.5% of cases. Attention-deficit/hyperactivity disorder was recorded in 28.9% of patients (37): combined type in 20 patients, predominantly inattentive in 15, and predominantly impulsive/hyperactive in 2. Other manifestations included headache (18.6%), cognitive impairment (7.8%), motor deficit (6.2%), and epilepsy (4.68%). Brain MRI was performed in 85 patients, revealing T2-weighted hyperintensities in the basal ganglia and/or cerebellum in 60 patients (70.5%), Chiari malformation type 1 in 4 cases, and arachnoid cysts in 3. Optic nerve gliomas were identified by MRI in 22 patients (25.8%). Other MRI findings included plexiform neurofibromas (9.3%) and central nervous system gliomas (3.1%). CONCLUSIONS: The neurological manifestations identified in our sample are consistent with those reported in the literature. Effective transfer strategies from paediatric neurology departments and subsequent clinical follow-up by adult neurology departments are needed to prevent loss to follow-up in adulthood.

Función visual y deficiencia visual cerebral (cerebral visual impairment) en niños. La importancia de entenderla y atenderla / Visual function and CVI in children (cerebral visual impairment): The importance of understanding and treating it

No disponible

Síndrome visual de la prematuridad / Visual syndrome of prematurity

No disponible

[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.

¿Es la persistencia de ductus arterioso un factor de riesgo para la retinopatía del prematuro? / Is patent ductus arteriosus a risk factor for retinopathy of prematurity?

Introducción: Evaluar si la presencia de persistencia de ductus arterioso (PDA) aumenta la proporción de retinopathy of prematurity (ROP, «retinopatía del prematuro») o su gravedad. Pacientes y método: Se incluyó en el estudio una cohorte consecutiva de prematuros diagnosticados de PDA por ecocardiograma nacidos en el Hospital Universitario Miguel Servet desde enero de 2006 hasta mayo de 2009. Comparamos la proporción y gravedad de ROP en este grupo en comparación con un grupo control sin PDA aleatoriamente elegido. Resultados: Estudiamos un total de 131 prematuros: 79 con PDA y 52 sin PDA. Encontramos relación estadísticamente significativa entre la presencia de PDA y la proporción de ROP (p=0,03) (OR=2,41; 95% CI 1,08–5,38), sin que existieran diferencias significativas en la edad gestacional (EG) entre los grupos. Sin embargo, al usar un modelo de regresión múltiple ajustado a la EG, hay una relación significativa entre ROP y EG (β=−0,322; p=0,003), pero no existe relación estadísticamente significativa entre ROP y PDA (p=0,073 para proporción de ROP y p=0,20 para estadio de ROP). Conclusiones: La presencia de PDA no aumenta el riesgo de desarrollar ROP ni su gravedad, una vez que se considera el efecto de la EG en la presencia de PDA (AU)

Objective: To evaluate whether the presence of patent ductus arteriosus (PDA) increases the rate of retinopathy of prematurity (ROP) or its severity. Patients and method: A consecutive cohort of premature infants diagnosed with PDA by echocardiography born in the Miguel Servet University Hospital from January 2006 to May 2009 was included in the study. We compared the rate and severity of ROP in this group of patients with a control group of randomly-chosen premature infants with a normal echocardiography. Results: We evaluate a total of 131 premature infants (79 with PDA and 52 without PDA). We found a statistically significant association between the presence of PDA and the rate of ROP (p=0.03) (OR=2.41; 95% CI 1.08–5.38). However, using a multiple regression model adjusted for the gestational age (GA), a significant reverse association was found between ROP and GA (β=−0.322; p=0.003), but there was no statistically significant correlation between ROP and PDA (p=0.073 for rate of ROP and a p=0.20 for stage of ROP). Conclusions: The presence of PDA does not increase the risk of developing ROP or its severity, once considered the effect of gestational age in PDA (AU)

[Is patent ductus arteriosus a risk factor for retinopathy of prematurity?]. / ¿Es la persistencia de ductus arterioso un factor de riesgo para la retinopatía del prematuro?

OBJECTIVE: To evaluate whether the presence of patent ductus arteriosus (PDA) increases the rate of retinopathy of prematurity (ROP) or its severity. PATIENTS AND METHOD: A consecutive cohort of premature infants diagnosed with PDA by echocardiography born in the Miguel Servet University Hospital from January 2006 to May 2009 was included in the study. We compared the rate and severity of ROP in this group of patients with a control group of randomly-chosen premature infants with a normal echocardiography. RESULTS: We evaluate a total of 131 premature infants (79 with PDA and 52 without PDA). We found a statistically significant association between the presence of PDA and the rate of ROP (p=0.03) (OR=2.41; 95% CI 1.08-5.38). However, using a multiple regression model adjusted for the gestational age (GA), a significant reverse association was found between ROP and GA (ß= -0.322; p=0.003), but there was no statistically significant correlation between ROP and PDA (p=0.073 for rate of ROP and a p=0.20 for stage of ROP). CONCLUSIONS: The presence of PDA does not increase the risk of developing ROP or its severity, once considered the effect of gestational age in PDA.

Microftalmía por deficiencia materna de vitamina A como complicación de derivación biliopancreática: comunicación de un caos / Microphthalmia for maternal vitamina A deficiency: complications of biliopancreatic diversión: report of a case

Los procedimientos quirúrgicos bariáticos pueden ocasionar graves alteraciones nutricionales que pueden afectar a la embriogénesis con riegos potenciales para el feto, pudiendo asociarse con una amplio espectro malformativo principalmente a nivel ocular. Se presenta el caso de una mujer que, tres años después de someterse a una derivación biliopancreática por obesidad mórbida, tuvo un recién nacido a término con una microfatmía bilateral severa. En la madre se confirmó una deficiencia de vitamina A con unos niveles séricos de 0,05 mg/dl (rango normal de 0,3-0,8 mg/dl) y en el recién nacido se realizaron las exploraciones complementarias para descartar otras causas etiológicas asociadas con microftalmía y se evaluó el estado vitamínico A, D, E y K que mostró una concentración también baja de vitamina A (< 0,10 mcg/ml. Rango normal 0,25-0,45 mcg/ml). Se hace una revisión de los principales aspectos relacionados con la deficiencia materna de vitamina A y la anoftamía/microftalmía (AU)

Bariatric surgery can carry important nutritional deficiencies that might impair embryogenesis with potential risks to the fetus. It could be associated with a wide spectrum of fetal malformations, mainly congenital eye malformations. We report the case of a woman who had undergone biliopancreatic diversion 3 years before and gave birth to a child with severe bilateral microphtalmia. The mother had a documented vitamin A deficiency with serum levels of 0,05 mg/dl (normal reference range 0,3-0,8 mg/dl). In the newborn baby other causes of microphthalmia were evaluated, showing low vitamin A levels (<0,10 mcgr/ml, normal range 0,25-0,45 mcgr/ml). The most important aspects related to maternal hypovitaminosis A and microphthalmia/anophtalmia have been checked (AU)

[New anaesthetic technique in diode laser treatment of retinopathy of prematurity]. / Nueva técnica anestésica en el tratamiento con láser diodo de la retinopatía del prematuro.

INTRODUCTION: Anaesthesia in premature infants can have many complications. Although the application of diode laser is less painful than cryotherapy, there has to be adequate immobilization of the patient to provide a correct focus of the spot. At Hospital Infantil de Zaragoza, the same standard anaesthetic technique has been applied since 1999, obtaining sedation with inhaled anaesthetic agents combined with topical anaesthesia. We analyse the results obtained on the application of this technique. MATERIAL AND METHOD: The study included 72 consecutive premature infants treated with diode laser for retinopathy of prematurity (ROP), using an anaesthetic technique combining inhalatory sedation and topical anaesthesia. The personal data of each patient was collected (gestational age, birth weight, postconceptional age at the time of initial treatment, associated systemic disorders) together with information related to the surgical intervention (duration, intraoperative and postoperative complications). RESULTS: Intraoperative complications occurred in 12 cases (16.66%). These were self-limited in 9 cases and only 3 cases required orotracheal intubation (4.16%). Postoperative complications occurred in 4 cases (5.55%) during the 48 h following treatment. No statistically significant relationship was found between the presence of intraoperative complications and the mean gestational age and birth weight, and the presence of apnoea, intraventricular haemorrhage or a permeable ductus. A statistically significant relationship was found between the presence of postoperative complications and significant intraventricular haemorrhage. CONCLUSIONS: This anaesthetic technique combining inhalatory gases and topical anaesthesia is safe, with few complications and comfortable for the surgeon.