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: H Ohashi, M Tsukahara, I Murano, K Fujita, S Matsuura, Y Fukushima, T Kajii
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 45 Issue 5 Pg. 597-600 (Mar 01 1993) ISSN: 0148-7299 [Print] United States
• PMID: 8456831 (Publication Type: Case Reports, Journal Article, Review)

Topics

• Adult
• Deafness (genetics)
• Female
• Genes, Recessive
• Growth Disorders (genetics)
• Humans
• Immunologic Deficiency Syndromes (genetics)
• Intellectual Disability (genetics)
• Microcephaly (genetics)
• Syndrome
• Werner Syndrome (genetics)