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.

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.

[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.

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.

[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.

[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.

[Diode laser therapy in retinopathy of prematurity: more than a decade of experience]. / Tratamiento con láser diodo en la retinopatía del prematuro: más de una década de experiencia.

BACKGROUND: Retinopathy of prematurity (ROP) is one of the most important causes of blindness in childhood. The introduction of diode laser has represented a significant advance in its treatment. The aim of the present study was to evaluate our results in the treatment of this entity after more than a decade of experience. PATIENTS AND METHODS: One hundred eighty-two eyes in 92 premature infants with ROP treated with diode laser in the Hospital Universitario Miguel Servet from 1992 to 2003 were studied. The characteristics of the population (gestational age, birth weight, sex, stage and affected zone) and treatment outcomes were analyzed. The change in the criteria indicating this treatment was also analyzed. RESULTS: In the treated population, mean gestational age (27.9 weeks) and birth weight (1015.9 g) were similar to those in other published studies. A favorable outcome was achieved in 169 of the 182 cases (92.8 %). The change in criteria increased the proportion of favorable outcomes to 96.1 %. DISCUSSION: Diode laser therapy is currently the treatment of choice in ROP. This treatment, based on guidelines for earlier intervention, provide greater efficacy without increasing morbidity.

[Exudative idiopathic juxtafoveolar retinal telangiectasis]. / Telangiectasias retinianas yuxtafoveales idiopáticas con exudación.

PURPOSE: To study the different clinical presentation of the idiopathic juxtafoveolar retinal telangiectasis and its treatment with argon laser. MATERIAL AND METHOD: We studied retrospectively nine eyes of eight patients, seen from 1990 to 1997, with diagnosis of idiopathic juxtafoveolar retinal telangiectasis. They have been studied with fluorescein angiography and treated with argon laser. RESULT: The most frequent clinical presentation was large areas of retinal telangiectasis affecting the horizontal rafe temporal to the macula. The diagnosis was stabilised as regards clinical manifestation and after ruling out other causes. Six out of eight patient with visual disfunction for macular edema and exudation improved considerably after laser photocoagulation. In 3 patients the vascular abnormalities were progressive after the treatment. CONCLUSIONS: The idiopathic juxtafoveolar retinal telangiectasis with exudation is an uncommon disease, that causes visual disturbance, but may be treated with laser photocoagulation.

[Ophthalmological exploration of children with Down's syndrome. Main results and comparison with a control group]. / Exploración oftalmológica en niños con síndrome de Down: principales resultados y comparación con un grupo control.

BACKGROUND: Down's Syndrome is the most frequent chromosomal aberration. There is a wide variety of symptoms. From an ophthalmological point of view, numerous alterations associated with Down's Syndrome have been described. MATERIAL AND METHODS: We have carried out a complete ophthalmic exploration on 60 children with Down's Syndrome and 60 control children. RESULTS: The first group showed a high percentage of refraction errors (90%), nystagmus (28%), strabismus (48%) and cataracts (13%). If we compare these results with those of the control group we find that the Down's group has a frequency significantly higher both in refraction errors as a whole (p < 0.001) and myopia (p < 0.01), hypermetropia (p < 0.02) and stigmatism (p < 0.001). They have also shown a frequency significantly higher of strabismus (p < 0.001). CONCLUSION: All of the observed alterations can have a negative influence on the appropriate educational development of these children. An early ophthalmological exploration would be advisable in children with Down's Syndrome.

Hemorrhagic retinopathy in newborns: frequency, form of presentation, associated factors and significance.

During the first 72 hours of their lives, 420 neonates were checked for retinal hemorrhages and macular affection. The neonate's gestational age, birth weight, and Apgar scores and maternal data (nulliparty, fetal presentation, duration of labor and delivery, induction of labor and obstetric technique) were all recorded. In 81 cases (19.2%), retinal hemorrhages were found. No significant relation was established with any of the associated factors, except for a significantly lower frequency of hemorrhages in cases of cesarean delivery (p < 0.01) and a significantly longer expulsive phase in the group with hemorrhages (p < 0.05). In follow-up examination 3 to 4 months later, neither the infants with hemorrhages nor the control group presented alterations.