Exploring the neurological features of individuals with germline PTEN variants: A multicenter study.

Objective: PTEN, a known tumor suppressor gene, is a mediator of neurodevelopment. Individuals with germline pathogenic variants in the PTEN gene, molecularly defined as PTEN hamartoma tumor syndrome (PHTS), experience a variety of neurological and neuropsychiatric challenges during childhood, including autism spectrum disorder (ASD). However, the frequency and nature of seizures and the utilization of allied health services have not been described.

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

Purpose: Mutations in the MECP2 gene are associated with Rett syndrome, an X-linked mental retardation disorder in females. Mutations also cause variable neurodevelopmental phenotypes in rare affected males. Recent clinical testing for MECP2 gene rearrangements revealed that entire MECP2 gene duplication occurs in some males manifesting a progressive neurodevelopmental syndrome.

Osteoid osteoma presenting with focal neurologic signs.

Osteoid osteomas are benign bone tumors, most commonly located in the femur or tibia. In young children, these tumors can be extremely difficult to diagnose. They commonly present nonspecifically with gait disturbance and pain and characteristically respond well to mild pain relievers.