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This T1-weighted, axial MRI shows that the optic chiasm is markedly enlarged (red arrows), as are the optic tracts (blue arrows). (Contributed by Dr. Sherman Stein.)
Jul. 23, 2020
Neuropharmacology & Neurotherapeutics
Jul. 29, 2021
Rett syndrome features include deceleration of head growth, repetitive and stereotyped hand movements, loss of purposeful hand movements, and partial or complete loss of expressive language. It is a neurodevelopmental disorder of the grey matter of the brain that primarily affects females, and can cause severe intellectual disability and seizures.
Apr. 01, 2021
Brainstem gliomas are, by definition, glial tumors that primarily arise within the brainstem. They occur most frequently in children, with the majority being diffuse pontine gliomas. Over 90% of children with diffuse pontine gliomas will die of disease within 18 months of diagnosis. However, non-diffuse pontine lesions, such as tectal gliomas and exophytic cervicomedullary tumors, are often low-grade gliomas and have a relatively good prognosis.
Apr. 15, 2020
Oct. 07, 2020
Childhood Degenerative & Metabolic Disorders
Phenylketonuria is caused by deficient activity of phenylalanine hydroxylase, an enzyme in the intermediary metabolism of the amino acid, phenylalanine, and is one of the most common inborn errors of metabolism. Untreated phenylketonuria produces the gradual onset of profound developmental disability in most, but not all, individuals. Neonatal screening allows for the early detection and treatment of infants with the disorder.
Sep. 02, 2020
Feb. 22, 2020