Analysis of Sturge-Weber syndrome: A retrospective study of multiple associated variables. / Análisis del síndrome de Sturge-Weber: estudio retrospectivo de múltiples variables asociadas.

INTRODUCTION: Sturge-Weber syndrome is a congenital vascular disorder characterised by facial capillary malformation (port-wine stain) associated with venous and capillary malformations in the brain and eye. Neurological symptoms and alterations in other locations may also be observed. OBJECTIVES: This study describes the clinical and epidemiological characteristics and different treatments in a cohort of patients diagnosed with Sturge-Weber syndrome in a tertiary hospital. MATERIAL AND METHODS: This comparative, retrospective and cross-sectional study was conducted by reviewing the medical records of patients diagnosed with Sturge-Weber syndrome between 1998 and 2013. RESULTS: The study included 13 patients (54% male, 46% female) diagnosed with Sturge-Weber syndrome. The mean age at diagnosis was 15 months. Leptomeningeal angiomatosis was present in 100% of cases: right hemisphere (46%), left hemisphere (38%), and bilateral (15%). Facial angioma was present in 61% of the cases: right (23%), left (38%) and bilateral (7%). Other skin disorders were found in 23% of the cases, including 2 with hemilateral involvement on the side where facial and leptomeningeal angiomatosis was present and one case of generalised cutis marmorata. Ocular disease was found in 77% of patients; the most common conditions were glaucoma (46%), strabismus (23%) and choroidal angioma (23%). Epilepsy was present in 100% of the cases, with partial seizures (simple or complex) being the most frequent (62%). Seizure control was highly variable; 31% of the patients had needed to try more than 3 drugs, 15% 3 drugs, and 31% 2 drugs, while 23% experienced good seizure control with monotherapy. One patient required surgery for epilepsy (left hemispherectomy) and has been seizure-free since then. The most frequent observations in electroencephalograms were spikes, polyspikes, and wave spikes in the lobes affected by leptomeningeal angiomatosis (46%). Other neurological symptoms were hemiparesis (39%), recurrent headaches (39%), stroke-like episodes (23%), psychomotor retardation (46%), and mental retardation (46%). Leptomeningeal calcifications could be seen in 85% of patient MRIs, as well as increased calcification in 70%; 54% of the patients had been treated with aspirin. CONCLUSIONS: There are multiple clinical manifestations of Sturge-Weber syndrome. Being familiar with all of them is vitally important for diagnosing and for monitoring and treating the condition correctly, which will improve the quality of life of these patients.

Prevalence of sleep disorders in patients with neurofibromatosis type 1.

INTRODUCTION: Neurofibromatosis type 1 (NF1) is frequently associated with neurological disorders unrelated to neurofibromas, including sleep disorders. OBJECTIVES: This article reviews the prevalence of sleep disorders in patients with NF1, compares rates to data reported in the literature, and analyses the relationship between cognitive disorder and attention deficit hyperactivity disorder (ADHD) in these patients. MATERIAL AND METHODS: Comparative retrospective study reviewing data collected between January 2010 and January 2012 from patients diagnosed with NF1 in a tertiary hospital. RESULTS: We included 95 paediatric patients with NF1 who completed the Bruni Sleep Disturbance Scale in Children. The overall prevalence of sleep disorders was 6.3%, which was lower than in the general paediatric population. Patients with NF1 and ADHD had a higher prevalence of sleep onset and maintenance disorders (18% vs 6.3%), sleep-wake transition disorders (12.5% vs 6.3%), and daytime sleepiness (12.5% vs 7.9%); differences were not statistically significant. A statistically significant difference was found in the subdomain of nocturnal hyperhidrosis (21.9% vs 6.3%, P < 0.05). Patients with NF1 and IQ<85 showed higher prevalence rates of daytime sleepiness (20% vs 6.7%) and of sleep hyperhidrosis (11% vs 0%). CONCLUSIONS: The prevalence of sleep disorders in our cohort of patients with NF1 was no higher than in the general paediatric population, although some of these disorders are more common in cases with cognitive disorders or ADHD.

Manifestaciones neurológicas de la invaginación intestinal / Neurological symptoms in children with intussusception

INTRODUCCIÓN: La invaginación intestinal es una enfermedad obstructiva potencialmente grave que se produce cuando un segmento del intestino se introduce en el interior de otro segmento intestinal distal vecino. La tríada clásica de vómitos, dolor abdominal y hematoquecia aparece en menos de un 25% de los casos. Existen formas de presentación atípica, con clínica sistémica y/o neurológica predominante. La alteración brusca de la consciencia puede ser el único signo clínico en lactantes. OBJETIVOS: Conocer la frecuencia y la naturaleza de las manifestaciones neurológicas de la invaginación intestinal y describir las características específicas de este subgrupo de pacientes. PACIENTES Y MÉTODOS: Revisión retrospectiva de las historias clínicas de 351 niños diagnosticados de invaginación intestinal entre los años 2000 y 2012. En todos los pacientes analizamos: datos epidemiológicos generales, sintomatología digestiva y neurológica, duración del cuadro clínico y eficacia del tratamiento. RESULTADOS: En 15 de los 351 pacientes totales (4,27%) se recogieron distintos síntomas y signos neurológicos, destacando la letargia (66,66%), seguida por los episodios paroxísticos, hipotonía global, debilidad aguda y fluctuación del nivel de consciencia. Un 60% de estos pacientes tenían solo clínica neurológica y un 73,3% de ellos necesitaron cirugía. CONCLUSIONES: Se debe considerar la invaginación intestinal en el diagnóstico diferencial de los lactantes y niños pequeños que acuden al Servicio de Urgencias con cuadros de letargia, hipotonía, debilidad aguda, alteración brusca del nivel de conciencia y/o episodios paroxísticos, aunque no exista ninguno de los signos clásicos de presentación de la enfermedad. Un diagnóstico precoz en estos casos puede evitar el desarrollo de complicaciones vasculares intestinales irreversibles

INTRODUCTION: Intussusception is a potentially severe obstructive disease that occurs when amore proximal portion of bowel invaginates into a more distal part of the bowel. Patients with intussusception often present with a wide range of non-specific systemic symptoms, with less than one quarter presenting with the classic triad of vomiting, abdominal pain, and bloody stools. An acute change in level of consciousness could be the only clinical symptom of this disorder. OBJECTIVES: To ascertain the frequency and nature of the neurological symptoms in children with intussusception, and to describe the characteristics of the patients presenting in this atypical way. PATIENTS AND METHODS: We retrospectively reviewed the records of 351 children presenting with intussusception from 2000 to 2012. General epidemiological data, abdominal and neurological signs and symptoms, duration of symptoms and effectiveness of treatment, were analysed in all patients. RESULTS: Of the 351 patients studied, 15 (4.27%) had one or more neurological symptoms recorded at presentation, with lethargy being the most frequent (66.66%), followed by hypotonia, generalized weakness, paroxysmal events, and fluctuating consciousness. Sixty per cent of these fifteen patients showed isolated neurological symptomatology, and eleven of them (73.3%) needed a laparotomy to reduce the intussusception. CONCLUSIONS: Intussusception should be considered in the differential diagnosis in infants and young children presenting as a pediatric emergency with lethargy, hypotonia, generalized weakness, paroxysmal events and/or sudden changes in consciousness, even in the absence of the classical symptoms of intussusception. An early recognition of intussusception may improve the global prognosis and avoid ischaemic intestinal sequelae

[Neurological symptoms in children with intussusception]. / Manifestaciones neurológicas de la invaginación intestinal.

INTRODUCTION: Intussusception is a potentially severe obstructive disease that occurs when a more proximal portion of bowel invaginates into a more distal part of the bowel. Patients with intussusception often present with a wide range of non-specific systemic symptoms, with less than one quarter presenting with the classic triad of vomiting, abdominal pain, and bloody stools. An acute change in level of consciousness could be the only clinical symptom of this disorder. OBJECTIVES: To ascertain the frequency and nature of the neurological symptoms in children with intussusception, and to describe the characteristics of the patients presenting in this atypical way. PATIENTS AND METHODS: We retrospectively reviewed the records of 351 children presenting with intussusception from 2000 to 2012. General epidemiological data, abdominal and neurological signs and symptoms, duration of symptoms and effectiveness of treatment, were analysed in all patients. RESULTS: Of the 351 patients studied, 15 (4.27%) had one or more neurological symptoms recorded at presentation, with lethargy being the most frequent (66.66%), followed by hypotonia, generalized weakness, paroxysmal events, and fluctuating consciousness. Sixty per cent of these fifteen patients showed isolated neurological symptomatology, and eleven of them (73.3%) needed a laparotomy to reduce the intussusception. CONCLUSIONS: Intussusception should be considered in the differential diagnosis in infants and young children presenting as a pediatric emergency with lethargy, hypotonia, generalized weakness, paroxysmal events and/or sudden changes in consciousness, even in the absence of the classical symptoms of intussusception. An early recognition of intussusception may improve the global prognosis and avoid ischaemic intestinal sequelae.