Luiz Celso Pereira Vilanova

TOXOCARIASIS OF THE CNS SIMULATING ACUTE DISSEMINATED ENCEPHALOMYELITIS

Toxocariasis is the infection of the human host with either Toxocara canis or Toxocara catis . Their definitive hosts are the domestic dog and cat, in which they live as adults within the lumen of the small intestine.1 Humans become infected after ingesting embryonated eggs from soil (geophagia, pica) or after exposure to dirty hands, raw vegetables, or larvae from undercooked giblets.2 The dominant clinical manifestations associated with toxocariasis are classified according to the organs affected. There are two main syndromes: visceral larvae migrans (VLM), which encompasses diseases associated with the major organs; and ocular larva migrans, in which pathologic effects on the host are restricted to the eye and the optic nerve.1,3–5 Clinical involvement of the CNS due to Toxocara species is rare and probably occurs as a result of hematogenous dissemination.4 This report describes a 2-year-old girl presenting neurotoxocariasis and an MRI pattern similar to acute disseminated encephalomyelitis (ADEM). A 2-year-old girl presented monthly episodes of fever and cough for approximately 1 year. Treatment during these episodes …

Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Normal Lactate: A New Mutation in the DARS2 Gene

Leukoencephalopathy with brainstem and spinal cord involvement and elevated brain lactate diagnosis is based on its highly characteristic pattern of abnormalities observed by magnetic resonance imaging and spectroscopy. Clinically, affected patients develop slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline. In 2007, the pathophysiology of this disorder was elucidated with the discovery of mutations in the DARS2 gene, which encodes mitochondrial aspartyl-tRNA synthetase, in affected individuals. Here, the authors present a case of leukoencephalopathy with brainstem and spinal cord involvement with normal brain lactate, in which genetic analysis revealed a new mutation in the DARS2 gene not previously described.

Mutation in Filamin A Causes Periventricular Heterotopia, Developmental Regression, and West Syndrome in Males

Summary:  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.

Urinary 6-Sulphatoxymelatonin Levels Are Depressed in Chronic Migraine and Several Comorbidities

(Headache 2010;50:413‐419)

Social anxiety score is high in adolescents with chronic migraine

Background:  Social anxiety disorder, also known as social phobia, is a marked and persistent fear of one or more social or performance situations in which the person is exposed to unfamiliar people or to possible scrutiny by others. It usually begins in mid‐adolescence and has a chronic course and interferes in academic, social, family and personal functioning. Recent studies have shown that social anxiety disorder is more prevalent in adults with migraine. Little evidence on this subject is available for the adolescent population.

Pediatric central nervous system tumors: a single-center experience from 1989 to 2009.

The objective of this study was to determine the epidemiology of primary tumors of the central nervous system (CNS) in pediatric patients from a Brazilian oncology institute. We retrospectively analyzed 741 charts (415 males and 326 females) of patients under 21 years of age who were diagnosed with a CNS tumor. The analysis included patients from 1989 to 2009 and was performed using the World Health Organization criteria. We evaluated the distribution of age, sex, topography, clinical symptoms, symptom intervals, and classification of the tumors. Patients with clinical/radiologic diagnoses were included. Seven hundred forty-one patients with tumors in the CNS were reviewed, and 83% of the patients presented a histologic diagnosis. Males (56%) were more prevalent than females. In children under the age of 1 year, the supratentorial compartment was the predominant region involved (62.0%). Astrocytoma was the most frequent tumor type (37.0%), followed by medulloblastoma (13.6%), craniopharyngioma (10.5%), and ependymoma (6.8%). Headaches were the most common symptom, and the symptom intervals varied from 1 to 5010 days. Approximately 4% of the patients had associated genetic syndromes. Although it was not a population study and selection bias may have occurred, this study supplies important epidemiologic data from an emerging country in which population studies are rare.

Neurocutaneous melanosis: Follow-up and literature review

Neurocutaneous melanosis is a rare, congenital, non-inherited syndrome characterized by numerous and/or large congenital nevi with intracranial leptomeningeal melanocytosis. This report describes two patients, presenting with a giant congenital nevus involving a major portion of the posterior trunk with satellite congenital nevi scattered all over the body, who developed seizures at 4 and 6 months of age, respectively. Changes in follow-up magnetic resonance (MR) examinations over an 8-year period were seen in case 1, while parenchymal melanocytic accumulation was reported in the region of the amygdala in case 2. These cases emphasize that neurocutaneous melanosis should be suspected in patients with giant congenital nevus with or without neurological symptoms. Also, neuroaxial MR screening should be performed in all cases and, ideally, before myelination of the brain to provide the highest sensitivity for detecting melanin deposits in the leptomeninges.

Menkes disease: case report of an uncommon presentation with white matter lesions

Menkes disease is a rare X-linked disorder related to a defect in the copper metabolism. According to the current literature, the most frequent neuroimaging findings are cortical atrophy, chronic subdural effusion or hygroma, and vascular abnormalities. White matter lesions may be present before other features of the disease and may evolve into atrophy. We hereby report a case of Menkes disease with typical history and progression, and an early phase imaging study with important white matter abnormalities, which could have lead to diagnostic difficulties.

Staggered spondaic word test in epileptic patients

CONTEXT Auditory processing during childhood may be altered if there is any predisposing factor during the course of development. Neurological disorders are among the risk factors for auditory processing impairment. From this perspective, epileptic children present such a risk factor and could present auditory processing dysfunction. OBJECTIVE To evaluate central auditory processing in epileptic patients using the Staggered Spondaic Word Test (SSW) in order to verify whether these patients presented auditory disorders and whether the type of crisis partial or generalized played a role in the occurrence and type of disorder. SETTING Tertiary care hospital. SAMPLE Thirty-eight children and adolescents, ranging from 7 to 16 years old, with a diagnosis of epilepsy divided into two groups: 23 patients with partial crisis and 15 patients with generalized crisis. MAIN MEASUREMENTS Performance in the Staggered Spondaic Word Test versus epileptic crisis type (partial or generalized). RESULTS The majority of epileptic patients showed central auditory processing disorders. There were no differences in relation to crisis type. Both groups showed similar performance, although the results observed for these patients differ from what is obtained with normal populations. With regard to response bias, there were also no differences in performance between subjects with partial or generalized seizures. All possible disorders were found in both groups, without the prevalence of one specific disorder over the other. CONCLUSIONS This study revealed a high prevalence of disorders among epileptic patients in relation to processing partially overlapped verbal sounds in a dichotic paradigm.

Sleep terrors antecedent is common in adolescents with migraine

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.