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Background: Despite previous studies indicating a moderate/high incidence of angiography headache (AH), there is still limited data about the risk factors associated with its occurrence., Objective: The present study aimed to assess the associations among demographic, clinical, and technical characteristics of cerebral digital subtraction angiography (DSA) and the occurrence of AH., Methods: Cross-sectional analytical observational study with a sample comprised of individuals with a recommendation for elective DSA. Clinical interviews were conducted to assess the occurrence of AH, using a standardized questionnaire., Results: Among 114 subjects, the mean age was 52.8 (±13.8) years old, 75.4% (86/114) were women, 29.8% (34/114) had a history of migraines, and 10.5% (12/114) had chronic headaches. The overall frequency of AH was 45.6% (52/114). Of those, 88.4% (46/52) underwent 3D angiography, 7.7% (4/52) underwent aortography, and 1.9% (1/52) underwent both procedures. There was a statistically significant association between AH and previous history of migraine (odds ratio [OR]: 4.9; 95% confidence interval [CI] 1.62-14.7; p  = 0.005) and 3D angiography (OR 6.62; 95%CI: 2.04-21.5; p  = 0.002)., Conclusions: 3D angiography is strongly associated with the occurrence of AH, which has never been reported before. The association between a previous history of migraine and AH confirms the results of previous studies., Competing Interests: The authors have no conflict of interest to declare., (Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/).)

Background: Brazil experienced a disproportionately higher rate of microcephaly cases in November 2015 with evidence of a causal link with Zika virus (ZIKV) infections during pregnancy. Epilepsy is a major neurological feature seen as part of congenital Zika virus syndrome (CZVS). Different seizure types and electroencephalographic (EEG) abnormalities have been described in association with this syndrome. However, clinical and neurophysiological features of epilepsy seen in children with CZVS are not fully understood., Methods: We evaluated children with CZVS showing an EEG pattern of electrical status epilepticus during slow-wave sleep (ESES). Information on gender, age of onset of seizures, head circumference at birth, gross motor function at the time of diagnosis, of clinical and EEG aspects of seizures, EEG features and response to drug treatment was assessed., Results: Our case series included four patients. They were diagnosed with epilepsy between one month to 18 months of age and showed an ESES pattern at the age of three. They presented with a wide range of epileptic symptoms, but all experienced tonic seizures. Multiple drug treatment was the management approach for three patients; however, they showed poor response to treatment with conventional drugs used in the treatment of ESES., Conclusions: Children with CZVS may develop an EEG pattern of ESES. Clinicians and neurologists should be aware of this neurological presentation to improve the management of these patients., (Copyright © 2020 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.)

We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously reported). Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. One-quarter of individuals met criteria for autism. Additional common features include macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. More than 70% of the individuals were male, and expressivity was variable by sex; epilepsy was more common in females and autism more common in males. The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. The group of four individuals with missense variants in KMT2E presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E might explain this divergence in phenotype, but requires independent validation. Disruptive variants in KMT2E are an under-recognized cause of neurodevelopmental abnormalities., (Copyright © 2019 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

The case of a girl with recurring chorea and a Takayasu's arteritis diagnosis is reported. This clinical manifestation has been reported in only one patient with this vasculitis in the pediatric group., (Copyright © 2013 Elsevier Editora Ltda. All rights reserved.)

Unlabelled: Migraine can be triggered by many factors such as stress, sleep, fasting and environmental causes. There are few studies that evaluated migraine trigger factors in the adolescent population., Methods: A total of 100 participants from 10 to 19 years were subjected to a detailed headache questionnaire, with demographic and clinical data, and a headache diary including trigger factors during a two-month period was asked., Results: Fifty of the participants exhibited chronic migraine and the other 50 participants demonstrated episodic migraine. The most common group of trigger factors reported was the environmental one, mainly sun/clarity, followed by hot weather and the smell of perfume., Conclusions: Ninety-one percent of children and adolescents with migraine reported a trigger factor precipitating the migraine attack.

Unlabelled: Migraines and sleep terrors (STs) are highly prevalent disorders with striking similarities. The aim of this study was to evaluate the effect of the antecedent of STs by comparing adolescents suffering from migraines with healthy controls in a large consecutive series., Methods: All patients were subjected to a detailed headache questionnaire and were instructed to keep a headache diary during a two-month period. The age range was 10 to 19 years. The diagnosis of STs was defined according to the International Classification of Sleep Disorders., Results: A total of 158 participants were evaluated. Of these participants, 50 suffered from episodic migraines (EMs), 57 had chronic migraines (CMs) and 51 were control subjects (CG). Participants who had a history of STs had significantly more migraines than participants who did not., Conclusions: Migraine is strongly associated with a history of STs in the adolescent population independent of demographics and pain intensity.

Context: Newborns may present a range of motor phenomena that are not epileptic in nature. Chin tremor is an unusual movement disorder that typically starts in early childhood and may be precipitated by stress and emotion. Its pathophysiology has not been fully elucidated., Case Report: We describe a full-term newborn that, immediately after neonatal anoxia, presented body and chin tremors that were unresponsive to anti-epileptic drugs. Subsequent neurological evaluation revealed signs of pyramidal tract damage and chin tremor triggered by percussion and crying. We discuss the hypothesis that the anatomopathological abnormality may lie at the level of the higher cortical centers or midbrain., Conclusions: Further studies are needed in order to gain greater comprehension of neonatal tremors. Recognition of the various etiological possibilities and consequent management of treatable causes is essential for care optimization.

Objective: To identify prognostic factors predicting a fatal outcome in HIV-negative children with neurotuberculosis based on clinical, epidemiological, and laboratory findings., Method: The clinical records of all in-patients diagnosed with neurotuberculosis from 1982 to 2005 were evaluated retrospectively. The following prognostic parameters were examined: gender, age, close contact with a tuberculosis-infected individual, vaccination for bacillus Calmette-Guérin, purified protein derivative (PPD) of tuberculin results, concomitant miliary tuberculosis, seizures, CSF results, and hydrocephalus., Results: One hundred forty-one patients diagnosed with neurotuberculosis were included. Seventeen percent of the cases resulted in death. The factors that were correlated with a negative outcome included lack of contact with a tuberculosis-infected individual, negative PPD reaction, coma, and longer hospitalisation time. A multiple logistic regression analysis was performed to identify which of these factors most often resulted in death., Conclusion: Coma at diagnosis, lack of tuberculosis contact, and a non-reactive PPD were the most important predictors of fatality in patients with neurotuberculosis.

Background: Migraine is a chronic neurological disease with several trigger factors, including dietary, hormonal and environmental factors., Purpose: To analyse precipitating factors in a sample of migraine patients., Method: Two hundred consecutive migraine patients were interviewed about possible trigger factors for migraine attacks., Results: Most patients showed at least one dietary trigger, fasting was the most frequent one, followed by alcohol and chocolate. Hormonal factors appeared in 53%, being the pre-menstrual period the most frequent trigger. Physical activities caused migraine in 13%, sexual activities in 2.5% and 64% reported emotional stress a trigger factor. 81% related some sleep problem as a trigger factor. Regarding environmental factors, smells were reported by 36.5%., Conclusion: Trigger factors are frequent in migraine patients, its avoidance may decrease headache frequency and also improve patients' quality of life.

Substantial evidence points to melatonin as playing a role in the regulation of circadian rhythms, sleep, and headache disorders. The objective of the study was to assess 6-sulphatoxymelatonin (aMT6s) levels in a large consecutive series of patients with migraine, comparing with controls. A total of 220 subjects were evaluated-146 had migraine and 74 were control subjects. Urinary samples were collected into the same plastic container since 8:00 p.m. to 8:00 a.m. of the next day (12-h period) and aMT6s was measured with quantitative ELISA technique. Among patients with migraine, 53% presented pain on the day of the urine samples collection. Their urinary aMT6s concentration was significantly lower than in the urine of patients without pain [14.0 +/- 7.3 vs. 49.4 +/- 19.0; t(143) = -15.1; 95% CI = -40.0 to -30.8; P < 0.001]. There was no significant difference in the aMT6s concentration of patients with migraine without pain on the day of their urine samples collection and controls [49.4 +/- 19.0 vs. 42.5 +/- 27.9; t(140) = 1.7; 95% CI = -1.2 to 14.8; P = 0.094]. To our knowledge, this is the first study to demonstrate reduction in melatonin levels during attacks in episodic and chronic migraine.

Pyridoxine-dependent epilepsy is a rare autosomal recessive disorder characterized by recurrent seizures that are not controlled by anticonvulsant medications but remits after administration of pyridoxine. We report on a 30 day-old girl who presented with seizures during the first day of life, initially responsive to anticonvulsant therapy, which remitted within two weeks. Seizures were characterized as multifocal myoclonic jerks of upper and lower limbs associated with buccal-lingual oral movements and eyelid blinking. Laboratory and neuroimaging studies were normal. Electroencephalographic record demonstrated a abnormal background activity with high-voltage epileptic discharges and a burst-suppression pattern. The seizures ceased after oral administration of pyridoxine, but recurred after withdrawal, confirming the diagnosis.

Background: Comorbidity of chronic migraine (CM) with psychiatric disorders, mostly anxiety and mood disorders, is a well-recognized phenomenon. Phobias are one of the most common anxiety disorders in the general population. Phobias are more common in migraineurs than non-migraineurs. The clinical profile of phobias in CM has never been studied., Method: We investigated the psychiatric profile in 56 patients with CM using the SCID I/P interview., Results: Lifetime criteria for at least one mental disorder was found in 87.5% of the sample; 75% met criteria for at least one lifetime anxiety disorder and 60.7% of our sample fulfilled DSM-IV criteria for lifetime phobic avoidant disorders. Mood and anxiety scores were higher in phobic patients than in non-phobic CM controls. Number of phobias correlated with higher levels of anxiety and depression., Conclusion: Phobias are common in CM. Its recognition may influence its management. Early treatment may lead to better prognosis.

Purpose: Familial periventricular heterotopia (PH) represents a disorder of neuronal migration resulting in multiple gray-matter nodules along the lateral ventricular walls. Prior studies have shown that mutations in the filamin A (FLNA) gene can cause PH through an X-linked dominant pattern. Heterozygotic female patients usually remain asymptomatic until the second or third decade of life, when they may have predominantly focal seizures, whereas hemizygotic male fetuses typically die in utero. Recent studies have also reported mutations in FLNA in male patients with PH who are cognitively normal. We describe PH in three male siblings with PH due to FLNA, severe developmental regression, and West syndrome., Methods: The study includes the three affected brothers and their parents. Video-EEG recordings and magnetic resonance image (MRI) scanning were performed on all individuals. Mutations for FLNA were detected by using polymerase chain reaction (PCR) on genomic DNA followed by single-stranded conformational polymorphism (SSCP) analysis or sequencing., Results: Two of the siblings are monozygotic twins, and all had West syndrome with hypsarrhythmia on EEG. MRI of the brain revealed periventricular nodules of cerebral gray-matter intensity, typical for PH. Mutational analyses demonstrated a cytosine-to-thymidine missense mutation (c. C1286T), resulting in a threonine-to-methionine amino acid substitution in exon 9 of the FLNA gene., Conclusions: The association between PH and West syndrome, to our knowledge, has not been previously reported. Males with PH have been known to harbor FLNA mutations, although uniformly, they either show early lethality or survive and have a normal intellect. The current studies show that FLNA mutations can cause periventricular heterotopia, developmental regression, and West syndrome in male patients, suggesting that this type of FLNA mutation may contribute to severe neurologic deficits.

Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder characterized by postnatal progressive heterotopic ossification of the connective tissue and congenital malformation of the big toes. We report on a nine-year-old girl with clinical and radiological features of FOP. She was born with bilateral hallux valgus and at the age of nine presented an indurate mass in the left cervical region that was painful. A significant decreased range of motion in all levels of the spine and shoulder girdle was found. The radiographs showed heterotopic ossification in the thoracic region. The patient had two outbreaks of the disease ("flare-ups") that were treated with prednisone 2 mg/kg/day for four days. After the "flare-ups", she had a continuous therapy with a Cox-2 inhibitor (25 mg/day) and a leukotriene inhibitor, montelukast (10 mg/day).