Project description:An 18-year-old German woman presented with progressive cerebellar ataxia since early childhood, delayed cognitive development, and hypogonadotropic hypogonadism. MRI demonstrated diffuse cerebral hypomyelination, cerebellar atrophy, and thin corpus callosum; X-ray revealed persistent milk teeth and hypoplastic crowns and roots (figure), indicative of 4H syndrome (hypomyelination, hypodontia, hypogonadotropic hypogonadism). POLR3B sequencing(1) revealed 2 compound heterozygous mutations (C527R [C.1579T>C] and the common ancestral V523E [C.1568T>A](2)).

| S-EPMC3812106 | biostudies-literature

Teaching Video NeuroImages: dancing epilepsy.

Project description: Not available

| S-EPMC2690972 | biostudies-literature

Teaching video neuroimages: Hollenhorst plaque.

Project description: Not available

| S-EPMC3908457 | biostudies-literature

Teaching Video NeuroImages: Foville syndrome.

Project description: Not available

| S-EPMC4862249 | biostudies-literature

Teaching NeuroImages: sacral spine chloroma.

Project description:A 23-year-old man with recurrent acute myeloid leukemia (AML) underwent successful reinduction and was judged posttherapy to be in complete remission. Soon thereafter, he complained of pain in his left buttock radiating into his left posterior thigh. Neurologic examination was unremarkable. Radiographic evaluation demonstrated a left S2 lesion suggestive of a nerve sheath tumor (figure 1). An open biopsy was performed that revealed a chloroma pathologically (figure 2), sometimes referred to as a myeloid sarcoma.(1,2) Most chloromas are found in patients with recurrent AML and are overwhelmingly intracranial.(1) Infrequently, chloromas are paraspinal, and in this location present with epidural spinal cord compression.(2) Intraspinal invasion by a chloroma is rare. Systemic evaluation confirmed recurrent AML, for which he was successfully treated with reinduction and whole-body irradiation followed by an allogeneic transplant. He is currently disease-free and neurologically asymptomatic 1 year posttransplant.

| S-EPMC3888196 | biostudies-literature

Teaching NeuroImages: Dynamic vertebral artery insufficiency.

Project description: Not available

| S-EPMC5109940 | biostudies-literature

Teaching NeuroImages: Vanishing white matter ovarioleukodystrophy.

Project description: Not available

| S-EPMC4909551 | biostudies-literature

Teaching NeuroImages: Acute generalized suppression on continuous EEG heralds clinical and radiologic deterioration.

Project description: Not available

| S-EPMC4409584 | biostudies-literature