title: Case report: Adult phenotype of Mulvihill-Smith syndrome.
abstract: Mulvihill-Smith syndrome (MSS) is characterized by premature aging, multiple pigmented nevi, decreased facial subcutaneous fat, microcephaly, short stature, mental retardation and recurrent infections, however the adult phenotype of MSS has yet to be delineated. We report a 28-year-old woman with Mulvihill-Smith syndrome, who had a solid pseudopapillary cystic tumor of her pancreas at age 17 years. Her distinctive sleep pattern includes severe insomnia with disappearance of sleep spindles and K-complexes, persisting muscle tone, and loss of slow wave sleep. The clinical and neurophysiological studies are compatible with agrypnia excitata, a sleep disorder attributable to a dysfunction of the thalamo-limbic system. Brain magnetic resonance imaging and single photon emission computed tomography revealed structural and functional deficits in the dorsomedial region of the thalamus and indicated that an alteration in the thalamo-limbic system may underlie the sleep disturbances in MSS. Furthermore, the rapid and severe decline in acquired cognitive function showed the distinct cognitive impairments resembling dementia, including intellectual deficits, memory disorder and executive dysfunction. We posit that an early onset tumor, sleep disorder and cognitive decline are adult manifestations of Mulvihill-Smith syndrome.
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Tatsuhiko
authors.initials: T
authors.lastname: Yagihashi
authors.forename: Motoichiro
authors.initials: M
authors.lastname: Kato
authors.forename: Kosuke
authors.initials: K
authors.lastname: Izumi
authors.forename: Rika
authors.initials: R
authors.lastname: Kosaki
authors.forename: Kaori
authors.initials: K
authors.lastname: Yago
authors.forename: Kazuo
authors.initials: K
authors.lastname: Tsubota
authors.forename: Yuji
authors.initials: Y
authors.lastname: Sato
authors.forename: Minoru
authors.initials: M
authors.lastname: Okubo
authors.forename: Goro
authors.initials: G
authors.lastname: Watanabe
authors.forename: Takao
authors.initials: T
authors.lastname: Takahashi
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
mesh_terms: D000328:Adult; D019588:Aging, Premature / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology*; D003704:Dementia / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008569:Memory Disorders / Q000235:genetics* / Q000473:pathology; D008831:Microcephaly / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D011859:Radiography; D007319:Sleep Initiation and Maintenance Disorders / Q000235:genetics* / Q000473:pathology; D012893:Sleep Wake Disorders / Q000235:genetics* / Q000473:pathology; D015899:Tomography, Emission-Computed, Single-Photon