SUMMARY Lhermitte-Duclos disease (LDD) is a rare cerebellar lesion with features of both malformation and benign neoplasm. However, the fundamental nature of the entity, its pathogenesis, and the exact genetic alterations remain unknown. We describe MR findings (including perfusion- and diffusion-weighted images) in two patients with LDD, as well as findings from single-photon emission CT (SPEC...

Cowden syndrome (OMIM No 158350) is a pleomorphic, autosomal dominant syndrome characterised by hamartomas in tissues derived from the endoderm, mesoderm, and ectoderm. It is caused by germline mutations in the PTEN gene and is allelic to the Bannayan-Riley-Ruvalcaba and Lhermitte-Duclos syndromes. The three syndromes are defined on clinical grounds but there is overlap in their definitions. Th...

Jonathan H. McKinnon, MD E. Peter Bosch, MD, FAAN SECTION 1 A 36-year-old man was referred for progressive lower extremity spasticity. He had a 4-year history of gradually progressive leg stiffness and ankle clonus and a 1-year history of gait disturbance and urinary urgency. There was no history of optic neuritis, diplopia, Lhermitte phenomenon, seizure, cognitive disturbance, paresthesias, or...

PTEN gene is considered one of the most mutated tumor suppressor genes in human cancer, and it's likely to become the first one in the near future. Since 1997, its involvement in tumor suppression has smoothly increased, up to the current importance. Germline mutations of PTEN cause the PTEN hamartoma tumor syndrome (PHTS), which include the past-called Cowden, Bannayan-Riley-Ruvalcaba, Proteus...

Cowden syndrome (CS) is clinically presented by multiple hamartomas, often with mucocutaneous lesions, goiter, breast cancer and gastrointestinal polyps. CS is a genetic disorder of autosomal dominant inheritance and is one distinct syndrome of the phosphatase and tensin homolog on chromosome 10 (PTEN) hamartoma tumor spectrum. Noteworthy, PTEN germline mutations are related to a wide range of ...

by negative contrast has shown lipid micelles that might be associated with mucin threads and which disappear after delipidation (Slayter et al., 1984). In rat small-intestinal mucins, different varieties of lipids aie bound to the different parts, naked or hyperglycosylated, of these mucins (Witas et al., 1983). At the present time, there is no published indication of such differences in human...

In 1909, Lhermitte described the predominant involvement of a particular group of fingers due to a central nervous system (CNS) lesion as “pseudoperipheral palsy” (1). Subsequently, many researchers have struggled to identify the primary motor cortex area associated with individual fingers via clinical, imaging (such as MRI, functional MRI or PET) and electrophysiologic methods (2). However, th...