A case of atlanto-axial subluxation in a 5-year-old boy with Rubinstein /Taybi syndrome (RTS) is presented and the imaging findings are evaluated. To the best of our knowledge, atlanto-axial subluxation has not been ...

Subacute sclerosing panencephalitis (SSPE) is a rare, progressive, inflammatory neurodegenerative disease. Our aim was to determine the metabolic abnormalities of brain in early- and late-stage SSPE by using MR spectroscopy ...

Sandhoff’s disease is a rare, genetic lysosomal storage disease leading to delayed myelination or demyelination. Although neuroimaging findings in this disease have been reported previously, magnetic resonance spectroscopy ...

Giant axonal neuropathy (GAN) is a rare genetic disease of childhood involving the central and peripheral nervous systems. Axonal loss with several giant axons filled with neurofilaments is the main histopathological feature ...

Pyridoxine-dependent seizures are an extremely rare genetic disorder. Early diagnosis and treatment are important for the prevention of permanent brain damage. Elevated levels of glutamate and decreased levels of ...

Purpose: The purposes of this study were to evaluate the differences in apparent diffusion coefficient (ADC) values between infra and supratentorial unidentified bright objects (UBOs), between UBOs and normal appearing ...

Giant axonal neuropathy is a rare autosomal recessive childhood disorder characterized by a peripheral neuropathy and features of central nervous system involvement. Magnetic resonance imaging (MRI) of an 11-year-old ...

Merosin-negative congenital muscular dystrophy is a rare genetic disease of childhood involving the central and peripheral nervous system. There were high signal intensities throughout the centrum semiovale, periventricular, ...

Subacute sclerosing panencephalitis (SSPE) is a rare, slowly progressive, fatal, inflammatory and neurodegenerative disease that is seen mostly in children and young adolescents, and primarily affects the parieto-occipital ...