Clinical profile of tuberous sclerosis complex patients with and without epilepsy: a need for awareness for early diagnosis.

Background: Tuberous sclerosis complex (TSC) is a multisystemic disorder. Its clinical features manifest differently in several organs, prompting the need for better knowledge.

Objective: The goal of the present study is to evaluate the neurological findings of TSC, such as cerebral lesions and epilepsy, and to raise awareness of non-neurological findings that could contribute to an earlier diagnosis and treatment.

Alexander disease: a novel mutation in the glial fibrillary acidic protein gene with initial uncommon clinical and magnetic resonance imaging findings.

Alexander disease (AxD) is a rare neurodegenerative disorder related to mutations in the glial fibrillary acidic protein gene. We report the case of a child with disease onset at the age of 3 months and a novel mutation in the glial fibrillary acidic protein gene. Peculiar aspects were initially atypical clinical and magnetic resonance imaging (MRI) findings, which became typical during follow-up.

Duchenne muscular dystrophy: alpha-dystroglycan immunoexpression in skeletal muscle and cognitive performance.

The Duchenne muscular dystrophy (DMD) is a muscular dystrophy with cognitive impairment present in 20-30% of the cases. In the present study, in order to study the relationship between the alpha-dystroglycan (alpha-DG) immunostaining in skeletal muscle and cognitive performance in DMD patients, 19 were assessed. Twelve patients performed the intelligence quotient (IQ) below the average.