Lhermitte-Duclos disease (LDD) is a rare cerebellar disorder believed to be pathognomonic for Cowden syndrome. Presently, the only known etiology is germline PTEN mutation. We report a 41-yr-old white female diagnosed with LDD and wild-type for PTEN. Exome sequencing revealed a germline heterozygous EGFR mutation that breaks a disulfide bond in the receptor's extracellular domain, resulting in ...

was concerned to the white matter, and developing more or less abruptly in apparently normal individuals. Perivascular necroses, perivascular and focal demyelination, haemorrhages, oedema, and cellular infiltration were the chief components of the pathological picture." In the 12 years since Hurst's paper appeared remarkably few similar cases have been reported, and in fact only five further ex...

A 48-year-old woman was admitted with a 3-year history of intermittent dizziness and unstable gait. Cranial MRI demonstrated a laminated lesion of T2 hyperintensity and T1 hypointensity involving the left cerebellar hemisphere, which appeared enlarged (figure, A–C). Secondary hydrocephalus and Chiari I malformation were observed. Because the striated appearance on MRI was characteristic of Lher...

Visual hallucinations have a differential diagnosis, both psychiatric and nonpsychiatric in nature. Described first by Lhermitte, peduncular hallucinosis is an uncommon etiology of visual hallucinations (VH). Typically, the offending lesion is vascular in origin and occurs at the level of the midbrain, thalamus, or rostral brainstem. Interestingly, the origin of the VH in our patient's case cou...

Lhermitte-Duclos disease (LDD; dysplastic cerebellar gangliocytoma) is a rare hamartomatous lesion of the cerebellar cortex and this was first described in 1920. LDD is considered to be part of the autosomal-dominant phacomatosis and cancer syndrome Cowden disease (CS). We examined the brain of a 46-year-old man, who displayed the manifestations of CS, with 7 Tesla (T) and 1.5 T MRI and 1.5 T M...

Long-distance dispersal (LDD) promotes the colonization of isolated and remote habitats, and thus it has been proposed as a mechanism for explaining the distributions of many species. Birds are key LDD vectors for many sessile organisms such as plants, yet LDD beyond local and regional scales has never been directly observed nor quantified. By sampling birds caught while in migratory flight by ...