Toxocariasis of the central nervous system: with report of two cases.

Clinical involvement of the nervous system in visceral larva migrans due to Toxocara is rare, although in experimental animals the larvae frequently migrate to the brain. A review of the literature from the early 50's to date found 29 cases of brain involvement in toxocariasis. In 20 cases, various clinical and laboratory manifestations of eosinophilic meningitis, encephalitis, myelitis or radiculopathy were reported. We report two children with neurological manifestations, in which there was cerebrospinal fluid pleocytosis with marked eosinophilia and a positive serology for Toxocara both in serum and CSF. Serology for Schistosoma mansoni, Cysticercus cellulosae, Toxoplasma and cytomegalovirus were negative in CSF, that was sterile in both cases. Improvement of signs and symptoms after specific treatment (albendazole or thiabendazole) was observed in the two cases. A summary of data described in the 25 cases previously reported is presented and we conclude that in cases of encephalitis and myelitis with cerebrospinal fluid pleocytosis and eosinophilia, parasitic infection of the central nervous system should be suspected and serology should be performed to establish the correct diagnosis and treatment.

Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males.

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.

Toxocariasis of the central nervous system: with report of two cases

Envolvimento do sistema nervoso, com manifestações clínicas, na infecção pelo Toxocara é raro, embora, nos modelos experimentais a larva freqüentemente se localize no sistema nervoso central. Uma revisão da literatura a partir de 1956, quando a síndrome foi descrita, até 2002, mostrou a publicação de 29 casos de neurotoxocaríase, dos quais em 20 havia relato de alterações clínicas e laboratoriais indicativas de meningite, ou encefalite, ou mielite ou radiculite eosinofílicas. Nessa comunicação estamos relatando observações em duas crianças que apresentaram sinais e sintomas neurológicos, com pleocitose e eosinofilia acentuada no líquor e com sorologia positiva para Toxocara no soro e no liquor. Sorologia para Schistosoma mansoni, Cysticercus cellulosae, Toxoplasma e citomegalovirus foram negativas no liquor, que era estéril nos dois casos. Houve melhora dos sinais e sintomas após o tratamento específico (albendazol e tiabendazol) nos dois casos. É apresentado um sumário dos principais achados nos casos relatados na literatura e se conclue que em casos de meningite, encefalite ou mielite com líquor apresentando pleocitose com eosinofilia acentuada, a suspeita de infecção parasitária deve ser levantada, sendo necessário sorologia especifica para diagnóstico e tratamento adequados.