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The aim was to define the clinical and histopathologic findings of infants who underwent muscle biopsy and identify the diagnostic yield of muscle biopsy in this cohort. Infants who underwent muscle biopsy from January 2010 to March 2017 at a tertiary hospital were included in the study (N = 87; 64 boys (73.6%), 23 girls (26.4%); age range 0 - 2 years; mean age 9.73 ± 7.04 months). Clinical and histopathologic data were obtained from medical records. Developmental delay (64.4%) and hypotonia (59.8%) were the most frequent clinical findings, and mitochondrial disease (61%) was the most frequent clinical diagnosis, followed by muscular dystrophy (15.9%) and congenital myopathy (11.5%). Creatine kinase level was normal in 65.9% and > 1,000 U/L in 17.1%. Specific pathologic findings were identified from 38 biopsies (43.7%). The most frequent pathologic findings were features compatible with mitochondrial/metabolic myopathy (14 patients, 16.1%) and muscular dystrophy (12 patients, 13.8%). Myopathic changes were present in 7 biopsy samples (8.0%) and neurogenic changes in 5 (5.7%). The clinical and pathologic diagnoses were compatible in 24 patients (63.2%). The diagnostic yield of muscle biopsy remains significant, especially in this age group. Mitochondrial disease is a major diagnostic challenge, and muscle biopsy helps to support the clinical diagnosis and guide further studies.
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Doenças Mitocondriais/diagnóstico , Músculo Esquelético/patologia , Miotonia Congênita/diagnóstico , Biópsia , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Doenças Mitocondriais/patologia , Miotonia Congênita/patologiaRESUMO
OBJECTIVE: This study reviews the clinical features, subtypes, and outcomes of childhood Guillain-Barré syndrome (GBS). METHODS: Fifty-four children who attended a tertiary care training and research hospital in Turkey were enrolled in the study. RESULTS: The mean age was 6.5 ± 4.2 years and 32 patients (59.5%) were male. The most common subtype of GBS was acute inflammatory demyelinating polyneuropathy (AIDP), which was seen in 27 patients (50%). Having antecedent history, especially upper respiratory tract infection was significantly more common in AIDP (P = 0.028). Sensorial symptoms were significantly more frequent in axonal type GBS (P = 0.001). When we compare the demyelinating and axonal forms, all of the groups had favorable outcome. CONCLUSION: The diagnosis of pediatric GBS can be delayed because of its variable presentation. Early admission to hospital and early treatment are important for decreasing the need for respiratory support and improving the outcome.
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Síndrome de Guillain-Barré/epidemiologia , Síndrome de Guillain-Barré/patologia , Recuperação de Função Fisiológica , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , TurquiaRESUMO
OBJECTIVE: The objectives of this study were to evaluate the demographic and clinical characteristics, causes, treatment patterns, outcome, and recurrence of childhood peripheral facial palsy. METHODS: We performed a retrospective study of 144 peripheral facial palsy patients, under 18 years old in a tertiary care pediatric hospital. Medical charts were reviewed to analyze the age, gender, side of facial nerve paralysis, family history, cause, grading by the House-Brackmann Facial Nerve Grading Scale (HBS), results of diagnostic tests, therapies, outcomes, and recurrence. RESULTS: Causes were as follows: 115 idiopathic (Bell's palsy) facial palsy (79.9%), 17 infections (11.8%) (9 otitis media, 4 varicella zoster virus (VZV) infection, 3 tooth abscess, and 1 group A ß-hemolytic streptococcus infection), 7 trauma (4.9%), 4 congenital-syndrome (2.8%), and 1 (0.7%) arterial hypertension. There was no difference in age, sex, family history, grading, or outcome between idiopathic and cause-defined facial palsy. At the end of the first year, our recovery rates were 98.3%. No significant difference in recovery outcome was detected between the patients who were treated with and without steroid treatment. Thirteen (9%) patients had recurrent attacks, and no differences in the outcomes of patients with recurrent facial palsy were observed. Recurrence time ranged from 6 months to 6 years. CONCLUSION: The results of this study indicate that both Bell's palsy and cause-defined facial palsy in children have a very good prognosis. Medical treatment based on corticosteroids is not certainly effective in improving outcomes in children. Recurrent attacks occurred in 6 years from the onset which leads to the conclusion that we should have a long-term follow-up of patients diagnosed with Bell's palsy.
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Paralisia Facial/epidemiologia , Paralisia Facial/terapia , Adolescente , Fatores Etários , Criança , Pré-Escolar , Paralisia Facial/complicações , Paralisia Facial/etiologia , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Recidiva , Estudos Retrospectivos , Índice de Gravidade de Doença , Fatores SexuaisRESUMO
OBJECTIVES: To investigate the demographic and neurological features and treatment modalities of neuro-Behçet's disease (NBD) in children, to share our experiences and to summarise the literature. METHODS: We retrospectively reviewed the medical records of Behçet's disease (BD) patients who attended our paediatric rheumatology department between December 2005 and October 2013. Five patients had the diagnosis of NBD. Initial neurological presentation, clinical BD presentation, magnetic resonance imaging pictures of those five patients was recorded. RESULTS: A total of 18 patients were diagnosed with BD. Among BD patients five of them were identified with NBD (27.8%). The mean age of NBD patients at the time of diagnosis was 12.4 years (range 5.5-15 years). The mean follow-up time after the neurological involvement was 5.2 years (range 0.5-14). In two cases neurological involvement occurred at the same time with the onset of other clinical findings of BD (40%). Both of these patients had parenchymal involvement. Three patients were admitted with headache as the initial neurological symptom. They revealed benign intracranial hypertension. One of them had cerebral venous sinus thrombosis (CVST). The other two had normal cranial magnetic resonance imagines. All patients received colchicine and steroid, two of them who had parenchymal involvement received also cytotoxic drugs. CONCLUSIONS: This study has shown that neurological symptoms can be the first manifestations of BD in children. Clinicians should be aware of this possibility and when a patient presents with neurological manifestations, it would be valuable to query the patient for the clinical features of Behçet's disease.
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Síndrome de Behçet/complicações , Síndrome de Behçet/patologia , Encefalopatias/etiologia , Encefalopatias/patologia , Encéfalo/patologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Angiografia por Ressonância Magnética , Imageamento por Ressonância Magnética , Masculino , Estudos Retrospectivos , Centros de Atenção Terciária , TurquiaRESUMO
Syncope is a transient loss of consciousness as a result of global cerebral hypoperfusion. It is generally benign but may be a sign of pathology. The purpose of this study was to analyze the frequency of syncope due to cardiac, neurocardiogenic, neurologic, situational, psychiatric, and other causes and make a differential diagnosis of syncope types according to detailed medical history and further investigations. We examined prospectively 268 children presented to pediatric polyclinics as well as cardiology and neurology departments (age range, 1-18 years) with a primary complaint of syncope for the study. Cardiac syncope was diagnosed in 12 patients, neurocardiogenic syncope in 232, neurologic syncope in 9, psychiatric syncope in 9, situational in 4, and benign paroxysmal positional vertigo in 2. The neurologic syncope group consists of patients diagnosed with epilepsy after evaluation. Eight patients in the cardiac syncope group were found to have diseases such as long QT syndrome, and the remaining patients had hypertrophic cardiomyopathy, atrioventricular nodal reentry tachycardia, ventricular tachycardia, and a second-degree heart block that can cause sudden death. In conclusion, syncope is a common problem in childhood that requires hospitalization. Because it may be the first finding of an underlying malignant cardiac or neurologic disease, clinicians must be very careful during medical evaluation. An electrocardiogram and a medical history including the details of the event, chronic diseases, and familial diseases are among the most important steps for the right diagnosis and prognosis. Instead of a routine procedure, further diagnostic workup should be directed according to medical history for high yield. Convulsive movements may be defined in all types of syncope related with cerebral hypoxia, and this may lead to a misdiagnosis of seizure by the clinician.
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Síncope/diagnóstico , Síncope/etiologia , Adolescente , Criança , Pré-Escolar , Diagnóstico Diferencial , Ecocardiografia , Eletrocardiografia , Eletroencefalografia , Feminino , Humanos , Lactente , Masculino , Estudos Prospectivos , Fatores de RiscoAssuntos
Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Intoxicação por Monóxido de Carbono/sangue , Intoxicação por Monóxido de Carbono/terapia , Oxigenoterapia Hiperbárica/métodos , Imageamento por Ressonância Magnética/métodos , Acidentes Domésticos , Carboxihemoglobina/análise , Criança , Seguimentos , Escala de Coma de Glasgow , Humanos , Masculino , Medição de Risco , Índice de Gravidade de Doença , Resultado do TratamentoRESUMO
Cardiac rhabdomyomas (CRs) are the most common heart tumors in children and closely associated with tuberous sclerosis complex (TSC). This study was performed to assess the presentation type, clinical course, treatment modalities, and outcome of the patients with rhabdomyoma, associated with TSC. We reviewed our patients with cardiac rhabdomyomas (CRs), who had received a diagnosis of TSC previously or during the follow-up period between June 1996 and January 2012, retrospectively. Thirty-two patients with TSC were evaluated and among them 11 patients (34%) were associated with CRs. Five patients (45%) had multiple tumors and consequently a total of 29 CRs were analyzed in our study. The median follow-up period was 2 years (range: 1 week-15 years). Clinical presentation was cardiac murmur in three patients, cyanosis in two patients and arrhythmia in one patient. Five patients were asymptomatic at the diagnosis and CRs were detected during routine cardiac evaluation for TSC. Cardiac tumors were diagnosed prenatally in two patients. Spontaneous regression rate was 31% and we experienced a complete regression of a tumor with an echogenic bordered tissue defect and septal thinning in a patient. Three patients had hemodynamically significant tumor obstruction; two of them underwent surgery. The other patient, who had multiple CRs, was treated medically with everolimus because of high-risk potential of surgery. Although surgical resection is the preferred treatment in most of the patients with hemodynamic instability, we need novel alternative medical therapies in some critically ill patients who cannot be operated due to various reasons.
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Neoplasias Cardíacas , Rabdomioma , Esclerose Tuberosa , Antineoplásicos/administração & dosagem , Criança , Pré-Escolar , Everolimo , Feminino , Seguimentos , Neoplasias Cardíacas/diagnóstico , Neoplasias Cardíacas/mortalidade , Neoplasias Cardíacas/fisiopatologia , Neoplasias Cardíacas/terapia , Humanos , Lactente , Recém-Nascido , Masculino , Diagnóstico Pré-Natal , Estudos Retrospectivos , Rabdomioma/diagnóstico , Rabdomioma/mortalidade , Rabdomioma/fisiopatologia , Rabdomioma/terapia , Sirolimo/administração & dosagem , Sirolimo/análogos & derivados , Taxa de Sobrevida , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/mortalidade , Esclerose Tuberosa/fisiopatologia , Esclerose Tuberosa/terapiaRESUMO
We evaluated the echocardiographic features of 69 children diagnosed with Sydenham's chorea at the first attack of acute rheumatic fever. By echocardiography, carditis was detected in 71% of cases and silent carditis was shown in 28.9% of cases at initial presentation. Most patients had mild or moderate valvular regurgitation. Sixty-three cases were followed from 1-10 years. The improvement rate in valvulitis in cases with silent carditis (29.4%) was not different than in cases with clinical carditis (18.5%) (p > 0.05). Persistence of valvular pathologies occurred in 72.2% of cases with carditis in the long-term follow-up (> 2 years). Most patients (88.8%) complied with secondary prophylaxis, so relapse of carditis was exclusively prevented in our patients. Recurrence of chorea was identified in 20.6% of cases and was not associated with clinical or laboratory evidence for streptococcal reinfection. Patients with chorea usually had mild carditis, and carditis showed resolution. Relapse of carditis in our population was exclusively prevented with secondary prophylaxis. Recurrence of chorea was not rare, despite regular treatment with benzathine penicillin.
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Coreia/complicações , Miocardite/microbiologia , Febre Reumática/complicações , Adolescente , Criança , Coreia/tratamento farmacológico , Feminino , Seguimentos , Humanos , Masculino , Miocardite/tratamento farmacológico , Estudos Retrospectivos , Febre Reumática/tratamento farmacológico , Prevenção Secundária , Resultado do TratamentoRESUMO
The aim of this cross-sectional study was to investigate the frequency of decreased areal bone mineral density (aBMD) among patients with cerebral palsy (CP), as estimated by using various aBMD Z-score adjustment methods. In addition, this study examined factors related to decreased aBMD scores. One hundred and two children between the ages of 3.2 and 17.8 years were examined. In patients with severe CP, the incidences of decreased aBMD according to various adjusting methods based on decimal age, bone age, height age, and height-for-age Z-score (HAZ) were 79.5%, 69.5%, 51.9%, and 38.3%, respectively. Abnormal levels of calcium, phosphorus, alkaline phosphatase, parathyroid hormone, or anticonvulsant were not predictive for a decreased aBMD. Mean aBMD Z-scores were significantly lower in all aBMD Z-score adjustment methods in patients with severe CP compared to patients with mild-to-moderate CP, except for the adjustment method based on HAZ.
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Densidade Óssea , Paralisia Cerebral/fisiopatologia , Adolescente , Antropometria , Criança , Pré-Escolar , Feminino , Humanos , MasculinoRESUMO
BACKGROUND: Several studies have been conducted to determine the risk of recurrence after withdrawal of antiepileptic drugs (AEDs) in recent years. There is no consensus concerning the circumstances affecting discontinuation of AEDs. This study was designed to determine the recurrence rate of epilepsy after withdrawal of AEDs and the risk factors related with recurrence. METHODS: Children with epilepsy onset between 1â¯month and 16â¯years of age who were followed up at least 3â¯years after AED treatment withdrawal were enrolled. Patients were classified into groups according to defined risk factors for recurrence. RESULTS: A total of 284 patients, 137 (48.2%) girls and 147 (51.8%) boys were included, and seizures recurred after withdrawal in 51 patients (18%). Thirty-three (64.7%) patients had recurrence in the first year after withdrawal. The recurrence risk was calculated based on the electro-clinical syndromes classification; the recurrence risk was the highest in the juvenile myoclonic/absence group and lowest in the benign infantile seizure group. No recurrence was observed in the infantile spasm group. Data evaluated by multivariable analysis showed that having the structural-metabolic and unknown epilepsy and <3â¯years seizure free period before withdrawal of AEDs were the main risk factors for recurrence after AED withdrawal in our study. CONCLUSION: We suggest a seizure-free period of at least 3â¯years under AED medication and we must be cautious in patients with structural-metabolic and unknown epilepsy before AED withdrawal.
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Anticonvulsivantes/administração & dosagem , Epilepsia/tratamento farmacológico , Criança , Feminino , Humanos , Masculino , Recidiva , Estudos Retrospectivos , Fatores de RiscoRESUMO
In this article, we present an 18-year-old female patient who was initially diagnosed as central nervous system vasculitis and focal segmental glomerulosclerosis but later diagnosed as Takayasu arteritis.
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PURPOSE: To evaluate the prevalence of refractive errors and strabismus in children with tuberous sclerosis and in control subjects. METHODS: Twenty-three children with tuberous sclerosis and 151 control subjects were evaluated. All children underwent cycloplegic autorefraction or retinoscopy, slit-lamp biomicroscopy, and dilated fundus examination. Ocular alignment was assessed by the Hirschberg, Krimsky, or prism cover test. RESULTS: The total prevalence of hypermetropia and amblyopia was significantly higher in patients with tuberous sclerosis (P = .035) than in the control subjects (P = .002). CONCLUSION: A high prevalence of hypermetropia seems to be an additional feature of tuberous sclerosis. Early screening for this amblyogenic factor is indicated in patients with tuberous sclerosis.
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Erros de Refração/etiologia , Estrabismo/etiologia , Esclerose Tuberosa/complicações , Adolescente , Criança , Pré-Escolar , Movimentos Oculares/fisiologia , Feminino , Humanos , Masculino , Microscopia Acústica , Prevalência , Prognóstico , Refração Ocular/fisiologia , Erros de Refração/epidemiologia , Erros de Refração/fisiopatologia , Retinoscopia , Fatores de Risco , Estrabismo/epidemiologia , Estrabismo/fisiopatologia , Turquia/epidemiologia , Acuidade VisualRESUMO
PURPOSE: To evaluate the prevalence of refractive errors, strabismus, nystagmus, and congenital cataract in children with Down syndrome and control subjects of similar age. METHODS: Seventy-seven children with Down syndrome and 151 control subjects were evaluated for the prevalence of ocular findings. RESULTS: Ocular findings were discovered in 97.4% of children with Down syndrome and 42.4% of control subjects (P < .0001). The point prevalence of nystagmus, strabismus, hypermetropia, astigmatism, and congenital cataract was significantly higher in children with Down syndrome (P < .0001 for the first four categories, and P < .01 for congenital cataract). CONCLUSION: Evaluation, treatment, and regular review of ocular and refractive findings in children with Down syndrome is urgently needed.
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Síndrome de Down/complicações , Erros de Refração/etiologia , Estrabismo/etiologia , Adolescente , Estudos de Casos e Controles , Catarata/congênito , Catarata/epidemiologia , Criança , Pré-Escolar , Síndrome de Down/epidemiologia , Feminino , Humanos , Lactente , Masculino , Nistagmo Patológico/epidemiologia , Nistagmo Patológico/etiologia , Prevalência , Erros de Refração/epidemiologia , Estrabismo/epidemiologia , Turquia/epidemiologiaRESUMO
BACKGROUND: Childhood stroke causes significant morbidity and mortality. In this study, we aimed to define the presenting findings, causes, risk factors and motor outcomes of our patients. METHODS: We retrospectively analysed patients aged from 1â¯month to 18â¯years who were diagnosed as having the first onset of stroke between January 2006 and December 2015. Presenting features, causes, risk factors, recurrence rate and motor outcomes were recorded. Motor outcome was evaluated by the gross motor function classification system. RESULTS: Forty-seven children were included in the study. Thirty-eight (78.7%) children had an arterial stroke, 9 (19.1%) had a venous stroke. The median age at the time of presentation was 60â¯months (3-214). Thirty-two patients (68%) presented with a focal neurological sign and 9 presented with seizure (19.1%). Patients who had a venous stroke presented with more diffuse neurological symptoms than those who had an arterial stroke. At least one risk factor for stroke was identified in 74.5% of the patients; the most common causative factor was prothrombotic state seen in 16 patients (33.5%). Stroke recurred in 5 patients (10.6%); coexistence of multiple factors was a risk factor for recurrence. Presenting with seizure was not a facilitator for epilepsy. Thirty-two (68%) patients had a favourable motor outcome. Younger age (24â¯months versus 114â¯months) and presenting with focal neurological signs were related to non-favourable motor outcome. CONCLUSION: Our cohort demonstrates that most of the children had a risk factor for stroke and have had favourable motor outcome. However, younger age and presenting with focal seizures are related to non-favourable motor outcome.
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Atividade Motora , Recuperação de Função Fisiológica , Acidente Vascular Cerebral/epidemiologia , Acidente Vascular Cerebral/fisiopatologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Recidiva , Estudos Retrospectivos , Fatores de Risco , Acidente Vascular Cerebral/etiologiaRESUMO
PURPOSE: We aimed to present clinical and radiologic characteristics of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) in children. METHODS: Eight children (5 boys and 3 girls; median age, 5.9 years; age range, 8 months to 14.1 years) diagnosed with MERS between September 2015 and June 2017 were included in the study. We reviewed the patient's data, including demographic characteristics, prodromal and neurologic symptoms, neurologic examination, magnetic resonance imaging and electroencephalography findings, laboratory findings, treatment, and prognosis. RESULTS: Prodromal symptoms were nausea and vomiting (n=6), diarrhea (n=6), and fever (n=3). Initial neurologic symptoms were seizures (n=4), delirious behavior (n=1), drowsiness (n=1), ataxia (n=1), transient blindness (n=2), abnormal speech (n=2), and headache (n=1). Two patients had a suspected infective agent: urinary tract infection caused by Escherichia coli and gastroenteritis caused by rotavirus. Seven patients had type I lesions, comprising characteristic symmetric ovoid (n=6) and band-shaped (n=1) T2-weighted hyperintense lesions at the spenium of corpus callosum, and one patient had type II lesion with additional symmetric posterior periventricular lesions. The lesions were isointense to mildly hypointense on T1-weighted imaging and did not show enhancement. All lesions displayed restricted diffusion. In all patients, neurologic symptoms completely normalized < 48 hours from the onset of symptoms without any sequelae. CONCLUSION: MERS has characteristic imaging features and favorable outcome.
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Encefalopatias/complicações , Encéfalo/diagnóstico por imagem , Corpo Caloso/diagnóstico por imagem , Imagem de Difusão por Ressonância Magnética/métodos , Encefalite/complicações , Músculos Paraespinais/diagnóstico por imagem , Adolescente , Encéfalo/patologia , Encefalopatias/sangue , Encefalopatias/líquido cefalorraquidiano , Encefalopatias/patologia , Criança , Pré-Escolar , Corpo Caloso/patologia , Eletroencefalografia/métodos , Encefalite/sangue , Encefalite/líquido cefalorraquidiano , Encefalite/patologia , Feminino , Humanos , Lactente , Masculino , Músculos Paraespinais/patologia , Prognóstico , Estudos RetrospectivosRESUMO
Episodic ataxia type 1 (EA1), a Shaker-like K+channelopathy, is a consequence of genetic anomalies in the KCNA1 gene that lead to dysfunctions in the voltage-gated K+ channel Kv1. 1. Generally, KCNA1 mutations are inherited in an autosomal dominant manner. Here we report the clinical phenotype of an EA1 patient characterized by ataxia attacks that decrease in frequency with age, and eventually leading to therapy discontinuation. A new de novo mutation (c.932G>A) that changed a highly conserved glycine residue into an aspartate (p.G311D) was identified by using targeted next-generation sequencing. The conserved glycine is located in the S4-S5 linker, a crucial domain controlling Kv1.1 channel gating. In silico analyses predicted the mutation deleterious. Heterologous expression of the mutant (Kv1.1-G311D) channels resulted in remarkably decreased amplitudes of measured current, confirming the identified variant is pathogenic. Collectively, these findings corroborate the notion that EA1 also results from de novo variants and point out that regardless of the mutation-induced deleterious loss of Kv1.1 channel function the ataxia phenotype may improve spontaneously.
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BACKGROUND: Antiepileptic drugs (AEDs) can cause hypersensitivity reactions during childhood. Studies report a wide clinical spectrum of reactions with AED use, ranging from a mild rash to severe cutaneous reactions. OBJECTIVE: To determine the prevalence and clinical features of AED hypersensitivity reactions during childhood. METHODS: Patients in our pediatric neurology clinic who were prescribed an AED for the first time between November 2015 and November 2016 were monitored and those who developed skin rash during this period were evaluated. RESULTS: A total of 570 patients were evaluated. The median age of the patients was 8.86 (interquartile range, 4.2-13.7) years, and 55.8% (318) of patients were male. The most frequently used AEDs were valproic acid (42%, n = 285) and carbamazepine (20.4%, n = 116). Hypersensitivity reactions to AEDs developed in 5.4% of patients. Of these patients, 71% (29) had cutaneous drug reactions and 29% (9) had severe cutaneous drug reactions; 61.3% (19) were using aromatic AEDs, and the leading suspected AED was carbamazepine (45.2%). Comparison of patients who did and did not develop AED hypersensitivity showed that hypersensitivity was more frequent among patients who were younger than 12 years, who used aromatic AEDs, or who used multiple AEDs. In addition, according to regression analysis results, aromatic AED use significantly increased the risk of AED hypersensitivity (P < .001). CONCLUSIONS: Although allergic reactions to AEDs are rare, they are of significance because they can cause life-threatening severe cutaneous drug reactions. Therefore, patients receiving AEDs, especially aromatic AEDs, must be monitored closely.
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Anticonvulsivantes/uso terapêutico , Carbamazepina/uso terapêutico , Hipersensibilidade a Drogas/epidemiologia , Pele/patologia , Ácido Valproico/uso terapêutico , Adolescente , Alérgenos/imunologia , Anticonvulsivantes/imunologia , Carbamazepina/imunologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Prevalência , Estudos Prospectivos , Turquia/epidemiologia , Ácido Valproico/imunologiaRESUMO
OBJECTIVE: To document the prevalence of refractive errors in patients with neurofibromatosis type 1 (NF1) and type 2 (NF2) and to compare it with that of age- and sex-matched controls. METHODS: 82 patients with NF1, 21 patients with NF2 and 103 age- and sex-matched controls were evaluated in this prospective observational case-control study. Cycloplegic autorefraction and dilated fundus examination were performed. Myopia was defined as the spherical equivalent refraction of at least -0.50 diopters (D), hyperopia as the spherical equivalent refraction of at least 2.0 D and astigmatism as the cylinder of at least 1.0 D. Main outcome measures were refractive error, IQ, years of education, height, weight and body mass index (BMI). RESULTS: The prevalence of myopia was 23.1% in patients with NF1, 23.8% in patients with NF2 and 16.5% in age- and sex-matched controls. These differences were significant (p<0.03, p<0.03), and adjusting for intelligence, education, height, weight and BMI increased the significance of this finding (p<0.001, p<0.001). The prevalences of astigmatism and hyperopia were similar in both groups. CONCLUSION: A high prevalence of myopia seems to be an additional feature of NF1 and NF2.
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Neurofibromatose 1/complicações , Neurofibromatose 2/complicações , Erros de Refração/etiologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Miopia/etiologia , Índice de Gravidade de DoençaRESUMO
Tetracyclines have antiinflammatory properties. To test the in vitro effect of doxycycline in autoimmune neurological disorders of childhood, peripheral blood lymphocytes from multiple sclerosis (n=11), acute disseminated encephalomyelitis (n=12), and control patients (epilepsy and headache, n=12), all aged 5-17, were examined for proliferation, migration, and apoptosis after culture with doxycycline, concanavalin A and myelin basic protein for 48 hours. Doxycycline increased proliferation in the control group, and less in the multiple sclerosis group but not in the acute disseminated encephalomyelitis group (p<0.03). It increased apoptosis in multiple sclerosis patients (p<0.02). According to this preliminary study, doxycycline might have immunomodulatory effects in children, justifying future studies with larger and more homogeneous patient groups.