RESUMO
BACKGROUND: Despite the high prevalence of headache in patients with neurofibromatosis type 1 (NF1), little data exist regarding the classification and characterization of headaches experienced by these patients. This paper describes a study of headache in patients with NF1 compared with healthy controls. METHODS: In this transversal study, participants (aged 4-19 years) were classified into two groups: NF1 patients or control subjects. The diagnosis of NF1 was performed according to the diagnostic criteria of the National Institutes of Health Consensus Conference, and the headache diagnosis was performed according to the diagnostic criteria of the International Classification of Headache Disorders, Second Edition. All participants underwent physical and neurologic evaluation and completed a detailed headache questionnaire. RESULTS: The comparison of 50 patients with NF1 and 50 age-matched controls revealed that the complaint of headache was significantly more frequent in the NF1 group than in the control group (CG) (62% vs 14%, χ(2)(1) = 22.4; P < 0.001). Migraine was significantly more frequent in patients with NF1 than in the CG (54% vs 14%, χ(2)(1) = 17.82; P < 0.001). No differences were found between the two groups regarding the use of simple analgesics (NF1: 14% vs CG: 5%, χ(2)(1) = 1.18; P = 0.276). CONCLUSIONS: Children and adolescents with NF1 are prone to migraines. Complaints of headache are very frequent in this population.
Assuntos
Transtornos de Enxaqueca/epidemiologia , Neurofibromatose 1/complicações , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Transtornos de Enxaqueca/diagnóstico , Neurofibromatose 1/diagnóstico , PrevalênciaRESUMO
Manganese (Mn) toxicity causes an extrapyramidal, parkinsonian-type movement disorder with characteristic magnetic resonance images of Mn accumulation in the basal ganglia. This letter highlights the neurological manifestations and neuroimaging features of inherited manganism (IMn), an unusual and treatable inborn error of Mn homeostasis. Early-onset dystonia with "cock-walk" gait and hyperintense signal in basal ganglia, associated to polycythemia, chronic liver disease and hypermanganesemia, promptly suggest IMn, and a genetic evaluation should be performed.
Assuntos
Transtornos Neurológicos da Marcha , Intoxicação por Manganês , Neuroimagem , Proteínas de Transporte de Cátions/genética , Criança , Feminino , Transtornos Neurológicos da Marcha/complicações , Transtornos Neurológicos da Marcha/genética , Transtornos Neurológicos da Marcha/patologia , Humanos , Intoxicação por Manganês/complicações , Intoxicação por Manganês/genética , Intoxicação por Manganês/patologia , Transportador 8 de ZincoRESUMO
A 10-year-old boy presented to our hospital with a 3-year history of fall attacks triggered by laughing, leading to a generalized loss of muscle tone without loss of consciousness (video). One year later, motor delayed skills started. Examination showed ataxia, moderate cognitive impairment, and vertical gaze palsy. EEG revealed diffuse slowing and disorganization of background rhythms. Molecular analysis disclosed heterozygosis p.P1007A and p.A1035V mutations, diagnostic of Niemann-Pick disease type C (NPC).
