title: Infantile Lhermitte-Duclos Disease Treated Successfully With Rapamycin.
abstract: Lhermitte-Duclos disease is a rare hamartomatous tumor of the cerebellum resulting from a mutation in the phosphatase and tensin homolog (PTEN) gene: it has been reported in fewer than 10 infants. Rapamycin treatment has not yet been described in Lhermitte-Duclos disease. The infant underwent shunt placement shortly after birth for aqueductal stenosis. Her clinical progression included failure to thrive, seizures, episodes of decerebrate posturing, loss of respiratory drive, and pituitary insufficiency from mass effect. The characteristic "tiger stripe" sign on imaging prompted diagnosis. Rapamycin therapy was initiated at 18 months. Within 5 months, our patient has become responsive to her surroundings and had return of spontaneous breathing. Repeat magnetic resonance imaging (MRI) reveals lack of brainstem compression or distortion of pituitary stalk. Rapamycin should be considered in cases of Lhermitte-Duclos disease where surgical removal may not be an option, as in our case where the cerebellum was entirely involved.
authors.affiliation: 1 University of South Alabama College of Medicine, Mobile, AL.
authors.forename: Megan
authors.initials: M
authors.lastname: Zak
authors.affiliation: 1 University of South Alabama College of Medicine, Mobile, AL.
authors.forename: Mark
authors.initials: M
authors.lastname: Ledbetter
authors.affiliation: 2 Department of Child Neurology, University of South Alabama Children's and Women's Hospital, Mobile, AL.
authors.forename: Paul
authors.initials: P
authors.lastname: Maertens
mesh_terms: D000903:Antibiotics, Antineoplastic / Q000627:therapeutic use*; D001921:Brain / Q000000981:diagnostic imaging*; D005260:Female; D006223:Hamartoma Syndrome, Multiple / Q000000981:diagnostic imaging / Q000188:drug therapy*; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D020123:Sirolimus / Q000627:therapeutic use*; D016896:Treatment Outcome
chemical_list: D000903:Antibiotics, Antineoplastic; D020123:Sirolimus
keywords: Lhermitte-Duclos; PTEN hamartomatous tumor syndrome; cerebellar gangliocytoma; mTOR; rapamycin