title: Premature aging and immunodeficiency: Mulvihill-Smith syndrome?
abstract: We report on a 30-year-old woman with premature aging, immunodeficiency, and other abnormalities. She had many manifestations of the Mulvihill-Smith syndrome, a disorder that has been described in 4 sporadic individuals, ranging in age from 4 to 17 years. The common manifestations include short stature, microcephaly, a senile face with an underdeveloped lower half, diminished facial subcutaneous fat, multiple pigmented nevi, sensorineural hearing loss, and a low IgG level. Our patient also had severe mental retardation, brachydactyly, severe T cell dysfunction, and suffered from severe verruca vulgaris and a chronic, active Epstein-Barr virus infection. The fact that her parents were first cousins suggests autosomal recessive inheritance of her disorder. Two alternative possibilities were considered: the disorder in the patient represents the Mulvihill-Smith syndrome with immune deficiency as a sign of its advanced stage, or a hitherto undescribed syndrome.
authors.affiliation: Department of Pediatrics, Yamaguchi University School of Medicine, Ube, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Ohashi
authors.forename: M
authors.initials: M
authors.lastname: Tsukahara
authors.forename: I
authors.initials: I
authors.lastname: Murano
authors.forename: K
authors.initials: K
authors.lastname: Fujita
authors.forename: S
authors.initials: S
authors.lastname: Matsuura
authors.forename: Y
authors.initials: Y
authors.lastname: Fukushima
authors.forename: T
authors.initials: T
authors.lastname: Kajii
mesh_terms: D000328:Adult; D003638:Deafness / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics; D008831:Microcephaly / Q000235:genetics; D013577:Syndrome; D014898:Werner Syndrome / Q000235:genetics*