A 2-year-old boy presented with delayed motor skills and language since birth. Family history disclosed consanguineous parents. Examination showed global muscular hypotonia, optic atrophy, oculomotor apraxia, and normal head circumference. Brain MRI showed optic atrophy and macrocerebellum (figure). Laboratory tests revealed deficient activity of a-L-iduronidase in peripheral blood leukocytes a...

A 75-year-old man with Lhermitte-Duclos Disease (LDD) manifesting as progressive headache is presented. Magnetic resonance imaging demonstrated a right cerebellar mass lesion with the characteristic "tiger-striped appearance". A mild mass effect was evident at the medulla oblongata, accompanied by inferior displacement of the right cerebellar tonsil. Thus, tonsillar herniation was considered th...

Background: Lhermitte-Duclos is a rare hamartomatous lesion of the cerebellar cortex with both neoplastic and hamartomatous features. Also known as dysplastic cerebellar gangliocytoma, they usually occur in the setting of Cowden’s syndrome, an autosomal dominant condition characterized by multiple hamartomas and neoplastic lesions in skin and internal organs. Although enlargement of the interna...

HCV associated liver disease continues to be the most common indication for liver transplantation in the West. Although the impact of HCV infection varies substantially between recipients, allograft failure secondary to recurrence of HCV infection is the most frequent cause of death and graft failure in HCV infected recipients. Attenuating the impact of HCV on posttransplant patient and graft s...

We study generalizations of Agmon-type estimates on eigenfunctions for Schrödinger operators. In the first part, we prove an exponential decay estimate on eigenfunctions for a class of pseudodifferential operators. In the second part, we study the semiclassical limit of ~-pseudodifferential operators, and exponential decay estimates on eigenfunctions and Briet-Combes-Duclos-type resolvent estim...

PTEN (phosphatase and tensin homolog deleted on chromosome ten) is a lipid phosphatase that counteracts the function of phosphatidylinositol-3 kinase (PI3K). Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human cancers, as well as various brain disorders, including macrocephaly, seizures, Lhermitte-Duclos disease, and autism....