Clinical characteristics of pediatric myasthenia: a surveillance study.

Objective: To evaluate the incidence, clinical features, diagnostic, and treatment trends of pediatric myasthenia in Canada.

Methods: Through established Canadian Pediatric Surveillance Program methodology, physicians were anonymously surveyed for cases of pediatric myasthenia using a standardized clinical questionnaire containing deidentified data. Inclusion criteria were any child <18 years old with ≥1 of the following: (1) fluctuating ptosis or extraocular weakness, (2) skeletal muscle weakness or fatigue, and (3) any of the following supportive tests: clinical response to acetylcholinesterase inhibitor, positive antibodies, abnormal slow repetitive nerve stimulation, or single-fiber electromyography.

Case of infantile onset spinocerebellar ataxia type 5.

Dominant spinocerebellar ataxias are a rare clinically and genetically heterogeneous group of neurodegenerative disorders. They are characterized by progressive cerebellar ataxia resulting in unsteady gait, clumsiness, dysarthria, and swallowing difficulty. The onset of symptoms is usually in the third or fourth decade of life; however, more subtle clinical manifestations can start in early childhood.

Rearrangement of chromosome 14q with associated white matter disease.

We report the case of a 29-month-old boy with spasticity and periventricular white matter changes on magnetic resonance imaging in whom a complex rearrangement consisting of a de novo duplication of 14q32.31q32.33 and deletion of 14q32.

Fetal hippocampal development: analysis by magnetic resonance imaging volumetry.

The hippocampal formation plays an important role in learning and memory; however, data on its development in utero in humans are limited. This study was performed to evaluate hippocampal development in healthy fetuses using 3D reconstructed MRI. A cohort of 20 healthy pregnant women underwent prenatal MRI at a median GA of 24.

Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.

Rett syndrome is a severe neurodegenerative disorder characterized by acquired microcephaly, communication dysfunction, psychomotor regression, seizures and stereotypical hand movements. Mutations in methyl CpG binding protein 2 (MECP2) are identified in most patients with classic Rett syndrome. Genetic studies in patients with a Rett variant have expanded the spectrum of underlying genetic etiologies.