Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair.

Background: Genomic imbalances constitute a major cause of congenital and developmental abnormalities. GLUT1 deficiency syndrome is caused by various de novo mutations in the facilitated human glucose transporter 1 gene (1p34.2) and patients with this syndrome have been diagnosed with hypoglycorrhachia, mental and developmental delay, microcephaly and seizures.

Phenylketonuria in pediatric neurology practice: a series of 146 cases.

The neurologic manifestations of patients with phenylketonuria treated at different ages are illustrated in this series of 146 cases, including 9 sib pairs. In addition to well-known findings such as mental retardation, autistic features, microcephaly, and tremor, motor retardation was common and responded promptly to dietary treatment. Hypotonia and diminished reflexes were more frequent findings than hypertonia.

Childhood case of progressive multifocal leukoencephalopathy with improved clinical outcome.

A 6-year-old boy who had been in remission from acute lymphoblastic leukemia for 2.5 years presented with seizures, hemiparesis, visual loss, and white- and gray-matter lesions on cranial magnetic resonance imaging. The diagnosis of progressive multifocal leukoencephalopathy was established on the detection of JC virus DNA by polymerase chain reaction in brain tissue.