RESUMEN
Epilepsy is the most common neurological complication in pregnancy. Women with epilepsy have a higher risk of complications in pregnancy. In Croatia, women with epilepsy are treated by neurologists at tertiary centers according to the place of residence. We prospectively followed-up pregnancies in women with epilepsy and healthy controls, and analyzed the factors responsible for their delivery outcomes and development of their babies. Healthy pregnant women had a higher level of education and economic status, but pregnant women with epilepsy took folic acid in a higher proportion than controls, possibly due to timely preconception counseling. Complications during pregnancy depended on the number of antiepileptic drugs and epilepsy control. We noticed some behavioral and cognitive aspects in children exposed in utero to valproic acid, which required follow up. The rate of congenital malformations was not increased. In conclusion, women with epilepsy should receive preconception counseling about the risk for pregnancy, but also about the possibilities to minimize that risk. We have introduced a model of integrative management of pregnancy and epilepsy based on close collaboration among different clinical experts in Croatia, in order to provide prompt counseling and timely intervention.
Asunto(s)
Anticonvulsivantes/uso terapéutico , Epilepsia/tratamiento farmacológico , Complicaciones del Embarazo/tratamiento farmacológico , Diagnóstico Prenatal , Efectos Tardíos de la Exposición Prenatal/epidemiología , Adulto , Anticonvulsivantes/administración & dosificación , Anticonvulsivantes/efectos adversos , Estudios de Casos y Controles , Croacia/epidemiología , Femenino , Humanos , Recién Nacido , Persona de Mediana Edad , Embarazo , Resultado del Embarazo , Estudios Prospectivos , Adulto JovenRESUMEN
We report the case of a 19-year-old man with neurofibromatosis type 1 who presented for evaluation of odynophagia, left-sided hemiparesis, multiple café au lait spots all over his body, and numerous subcutaneous and cutaneous neurofibromas. Imaging revealed the presence of two large neurofibromas-a 60 × 50 × 35-mm tumor in the left parapharyngeal space and an intradural tumor measuring 25 mm in diameter. We removed the larger tumor via a transoral route with the Harmonic Scalpel. The size of this tumor far exceeded the size of any other reported tumor removed in this manner. Various approaches to the parapharyngeal space have been described in the literature. To the best of our knowledge, this case represents the first report of a transoral removal of a huge parapharyngeal space neurofibroma with a Harmonic Scalpel.
Asunto(s)
Neurofibromatosis 1/cirugía , Procedimientos Quirúrgicos Otorrinolaringológicos/métodos , Neoplasias Faríngeas/cirugía , Humanos , Masculino , Procedimientos Quirúrgicos Otorrinolaringológicos/instrumentación , Instrumentos Quirúrgicos , Adulto JovenRESUMEN
AIM: To determine the prevalence, number, and location of multiple (≥2) T2-hyperintensities on brain magnetic resonance imaging (MRI) in children with neurofibromatosis type 1 (NF1) and their correlation with age, and to establish their sensitivity, specificity, and accuracy for the diagnosis of NF1 in children, especially in the early age (2-7 years). METHODS: We performed a cross-sectional study of 162 patients with NF1 from Croatian Neurofibromatosis Association Database and 163 control children between the ages of 2 and 18 years who underwent brain MRI between 1989 and 2009. RESULTS: Multiple T2-hyperintensities were present in 74% of NF1 patients and 1.8% of controls. They were mainly located in the basal ganglia, brainstem, and cerebellum and were significantly decreased in prevalence and number in the older age. T2-hyperintensities had excellent diagnostic accuracy with the area under the receiver operating characteristic (ROC) curve of 0.849 and 95% confidence interval (CI) of 0.805-0.886. The diagnostic sensitivity, specificity, and accuracy rate of T2-hyperintensities for NF1 were highest in the youngest age (2-7 years): 81% (95% CI 71%-89.1%), 99% (95% CI 92.3%-100%), and 85.8 (95% CI 83.3-93.8), respectively. CONCLUSION: This study strongly suggests the inclusion of T2-hyperintensities on brain MRI on the list of diagnostic criteria for NF1, especially in children of early age, when the clinical penetration of the NF1 gene has not yet been completely finished.
Asunto(s)
Neoplasias Encefálicas/diagnóstico , Encéfalo/patología , Imagen por Resonancia Magnética , Neurofibromatosis 1/diagnóstico , Adolescente , Factores de Edad , Niño , Preescolar , Femenino , Humanos , Masculino , Estudios Prospectivos , Curva ROCRESUMEN
Neurofibromatosis type 2 (NF2) is an autosomal dominant disease that predisposes to bilateral vestibular schwannomas (neurinomas), other central and peripheral nervous system tumours (multiple meningeomas and neurofibromas) and ocular abnormalities (cataract). The NF2 tumour suppresor gene is localised on chromosome 22q12 and encodes protein called schwannomin or merlin which is related to a family of cytoskeleton-to-membrane proteins linkers ERM (ezrin-radixin-moesin proteins). About 50% of all cases are new germline mutations, although about 20% of apparently sporadic cases represent somatic mosaicism. The majority of observed germline NF2 mutations are point mutations which result in schwannomin with an altered or absent C-terminal domain. NF2 has a variable clinical presentation, with two basic types: severe type having early onset and progressive growth of tumors and the milder type having later onset and less aggressive course. The genotype-phenotype correlations indicate a greater variability of clinical disease expression. In this paper we discuss the epidemiology, genetic and clinical characteristics, diagnostic criteria, investigations, screening for risk persons and recommendations for care and therapy of patients with NF2.
Asunto(s)
Neurofibromatosis 2/genética , Neuroma Acústico/genética , Humanos , Neurofibromatosis 2/diagnóstico , Neurofibromatosis 2/terapia , Neuroma Acústico/diagnóstico , Neuroma Acústico/terapiaRESUMEN
Neurofibromatosis type 1 (NF 1) is an autosomal dominant disorder with high index of spontaneous mutations and extremely varied and impredictible clinical manifestations. The aim of this work was to give an account of eye disorders in NF1. 132 patients of age 0-16 years with NF1 were followed up for 15 years. They were checked repeatedly for ophthalmologic disorders. Frequent eye disorders were: Lisch nodules (Iris hamartomas, IH) 78%, hyperthelorism 19.7%, bulbomotoric disorders 15.9%, disorders of the optic disc 16.7% and optic gliomas (18.9%). The highest incidence of eye disorders by NF1 patients showed Lisch nodules (IH). Its ease of clinical recognition and if present with other diagnostic signs (for instance café au lait patches) could be deemed as reliable diagnostic criterion of NF1 in childhood.
Asunto(s)
Oftalmopatías/epidemiología , Neurofibromatosis 1/complicaciones , Adolescente , Manchas Café con Leche/etiología , Niño , Preescolar , Croacia/epidemiología , Oftalmopatías/etiología , Estudios de Seguimiento , Hamartoma/epidemiología , Hamartoma/etiología , Humanos , Incidencia , Lactante , Recién Nacido , Neoplasias del Iris/epidemiología , Neoplasias del Iris/etiología , Neurofibromatosis 1/diagnósticoRESUMEN
PURPOSE: West syndrome (WS) is one of the catastrophic epileptic syndromes in infancy characterized by a triad of infantile spasms, psychomotor deterioration and hypsarrhythmic EEG pattern. WS is commonly associated with poor long-term outcome, especially in symptomatic cases, with development of other seizure types, impaired cognitive and psychosocial functioning. The aim of our study was to evaluate the efficacy of the control of infantile spasms using synthetic ACTH or vigabatrin in newly diagnosed cases and to correlate it with the underlyning causes, outcome and adverse effects. PATIENTS AND METHODS: The database of children with WS seen at the Neuropediatric Unit and followed at outpatient clinics from January 1, 1994 until December 31, 2003 were reviewed. The diagnosis of WS following the criteria of ILAE was made in 32 patients. RESULTS: Data were collected for 32 children (9 girls and 23 boys). According to the etiology, 5 (15.6%) were cryptogenic, and 1 (3.1%) was idiopathic. In 26 (81.2%) symptomatic cases, hypoxic-ischemic encephalopathy (69.2%) was the most common etiologic factor, followed by central nervous system anomaly including malformation of cortical development (11.5%), and Sturge Weber syndrome (3.8%), and chromosomal translocation with Down syndrome (11.5%). In 65.1% of symptomatic cases birth occurred prematurely. The mean age at spasm onset was 5.8 months, and mean age at diagnosis and treatment 7.2 months. Between 1994 and 1996 synthetic ACTH was used for treatment of WS in 7 patients (1 cryptogenic and 6 symptomatic), spasm control was achieved in 6, hypsarrhythmia disappeared in 5, and vigabatrin was added after synthetic ACTH in 3 patients. In one child synthetic ACTH was stopped because of arterial hypertension. All children had Cushing syndrome. After 1996, vigabatrin was administrated to 5 children with cryptogenic and 20 children with symptomatic WS. In 22/32 spasm control was achieved within 15 days. Synthetic ACTH was added in 3 children with spasms and hypsarrhythmia disappeared in 1 child. There was no recurrence of WS. The mean follow-up in 27 children was 4.6 (0.5 to 9.9 years) whereas 5 were lost from follow-up. Of 6/27 children with cryptogenic WS, 1 had idiopathic WS, 3 had normal psychomotor development and 2 had psychomotor retardation, without epileptic fits and still receiving AED. Of 21/27 children with symptomatic WS 76.2% had severe psychomotor retardation, 42.8% had epilepsy, 23.8% had intractable epileptic fits, and 2 children with Down syndrome were without epilepsy and without AED. Lennox-Gastaut syndrome developed in 14.2% (3/21 children); 1 of them died at the age of 3.5 years from acute gastric bleeding during the administration of synthetic ACTH, and an other child died at the age of 5.5 years from infection and respiratory insufficiency. The mortality rate was 7.4% (2/27 children). DISCUSSION AND CONCLUSION: The cryptogenic etiology is associated with a very low risk of poor outcome in WS. In children with normal development and regular school performance an idiopathic etiology can be presumed. The children with Down syndrome had a relatively benign outcome with regard to seizure control compared with symptomatic infantile spasms in the general population. In symptomatic WS caused by hypoxic-ischemic encephalopathy the outcome was linked with coexistence of other forms of epilepsy and neurologic deficit. The poor prognosis concerning intractable nature of the seizures and serious neurologic deficit is recorded in children with malformation of cortical development and Sturge Weber syndrome. The outcome of these children is determined by the brain damage other than by epilepsy itself. Regarding the treatment with synthetic ACTH or vigabatrin, the control of WS was the same for cryptogenic and symptomatic forms, one drug may be effective if the other drug fails. Synthetic ACTH can have many side effects, even death. The visual field defect is associated with vigabatrin, but can be avoided with careful funduscopic follow-up. Vigabatrin can be suggested as the first drug for WS; if spasms persist after 15 days with a dose of 150 mg/kg, synthetic ACTH should be considered.
Asunto(s)
Espasmos Infantiles/tratamiento farmacológico , Anticonvulsivantes/uso terapéutico , Cosintropina/uso terapéutico , Preparaciones de Acción Retardada , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Pronóstico , Espasmos Infantiles/complicaciones , Espasmos Infantiles/diagnóstico , Vigabatrin/uso terapéuticoRESUMEN
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with a prevalence of about 1/3000. The clinical diagnosis of NF1 is based on the presence of two or more of the following criteria: six or more café au lait spots, >2 neurofibromas of any type or 1 plexiform neurofibroma, freckling in the axillary or inguinal region, optic glioma, a distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex with or without pseudoarthrosis, and a first degree relative with NF1. The disease has numerous complications. The pathogenesis is not clarified. The NF1 gene is a megagene (length of app. 350 kilobases of genomic DNA), localised on the long arm of the 17th chromosome at the position 17q11.2. The mutation rate for NF1-gene is high. The half of all cases of NF1 are from new mutations. The gene protein product - neurofibromin plays an important role in the tumorogenesis as a tumor-suppressor gene. Molecular genetic evaluation for the identification of disease-causing mutations is possible in cca 20% patients. The patient care is best done in specialised neurofibromatosis centers.