Early-onset epilepsy as the main neurological manifestation of cerebrotendinous xanthomatosis.

Cerebrotendinous xanthomatosis (CTX) is a rare inherited metabolic disorder, which usually presents with diverse systemic manifestations (ophthalmologic, cardiac, and dermatologic symptoms), and neurological dysfunction, such as neuropsychiatric symptoms, cognitive decline, and ataxia. Epilepsy is rarely seen as the main neurological manifestation of CTX. Herein, we describe a middle-aged woman with epilepsy since childhood as the only neurological symptom associated with the classical systemic manifestations of CTX.

Neuroimaging features in congenital trichomegaly: the Oliver-McFarlane syndrome.

A 23-year-old woman presented to our hospital with 9 months history of progressive ataxia, visual loss since childhood due to retinitis pigmentosa and primary amenorrhea. On examination, there were also sparse scalp hair, very long and curled upwards eyelashes and short stature. Oliver-McFarlane syndrome was suspected. Brain MRI disclosed cerebellar atrophy and hyperintense signal in corticospinal tracts on FLAIR and T2-weighted images. Therefore, brain imaging must be thoroughly investigated in patients with suspected Oliver-McFarlane syndrome, in order to determinate whether cerebellar atrophy and hyperintense signal in corticospinal tracts are part of this neurological condition.

Inherited manganism: the "cock-walk" gait and typical neuroimaging features.

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.

Chronic hepatitis C virus in the state of Piauí, northeastern Brazil.

Knowledge of genotype distribution of hepatitis C virus (HCV) has clinical importance due to genotype 1 lower response to treatment compared with genotypes 2 and 3. The goal of this survey was to describe clinical and laboratorial profiles of patients with chronic hepatitis C (CHC) in the State of Piauí, as well as to expand the overall awareness of the distribution of HCV genotyping in Northeast of Brazil. A retrospective cross-sectional study was carried out between April 1999 and August 2005. A total of 153 patients were included, 119 (77.8%) males and 34 (22.2%) females; mean age = 48.01 +/- 9.11 years. We observed a homogeneous distribution between genotypes 1 (50.0%) and 3 (49.0%), while the most frequent subtype noticed was 3a (49.0%). The mean viral load among patients with subtype 1b (1,232,476 UI/mL) was significantly superior to the subtype 1a (391,204 UI/mL; p = 0.010) and to the subtype 3a (594,228 UI/mL; p = 0.047). The average levels of gamma-glutamiltransferase of genotype 1 (144 mg/dL) had statistical differences when compared to genotype 3 (74 mg/dL; p = 0.014). Most patients showed mild to moderate degrees of histopathological necroinflammatory activity and hepatic fibrosis (79.0% and 56.2%, respectively). We concluded that most candidates to treatment of CHC in the State of Piauí presented with clinically stable hepatic illness; the distribution of genotypes 1 and 3 was virtually homogeneous; and there was no significant demographic or clinical differences among genotypes or subtypes of HCV.

Chronic hepatitis C virus in the state of Piauí, northeastern Brazil

Knowledge of genotype distribution of hepatitis C virus (HCV) has clinical importance due to genotype 1 lower response to treatment compared with genotypes 2 and 3. The goal of this survey was to describe clinical and laboratorial profiles of patients with chronic hepatitis C (CHC) in the State of Piauí, as well as to expand the overall awareness of the distribution of HCV genotyping in Northeast of Brazil. A retrospective cross-sectional study was carried out between April 1999 and August 2005. A total of 153 patients were included, 119 (77.8 percent) males and 34 (22.2 percent) females; mean age = 48.01 ± 9.11 years. We observed a homogeneous distribution between genotypes 1 (50.0 percent) and 3 (49.0 percent), while the most frequent subtype noticed was 3a (49.0 percent). The mean viral load among patients with subtype 1b (1,232,476 UI/mL) was significantly superior to the subtype 1a (391,204 UI/mL; p = 0.010) and to the subtype 3a (594,228 UI/mL; p = 0.047). The average levels of gamma-glutamiltransferase of genotype 1 (144 mg/dL) had statistical differences when compared to genotype 3 (74 mg/dL; p = 0.014). Most patients showed mild to moderate degrees of histopathological necroinflammatory activity and hepatic fibrosis (79.0 percent and 56.2 percent, respectively). We concluded that most candidates to treatment of CHC in the State of Piauí presented with clinically stable hepatic illness; the distribution of genotypes 1 and 3 was virtually homogeneous; and there was no significant demographic or clinical differences among genotypes or subtypes of HCV.