The eleventh reported case of Mulvihill-Smith syndrome in the literature

Abstract

BackgroundThe Mulvihill-Smith Syndrome was first recognized in 1975. After the recognition of the Mulvihill-Smith Syndrome, ten cases have been described.Case presentationThis article describes the eleventh case of this syndrome in a male patient, 24 years-old with short stature and microcephaly with mild cognitive impairment, deafness and allergic conjunctivitis. The patient was hospitalized several times for repeated infections, and the presence of multiple melanocytic nevi on his skin was noticed.ConclusionsBased on the entire set of signs and symptoms presented in our study, it was diagnosed the patient with Mulvihill-Smith Syndrome.

Retinal features in Mulvihill-Smith syndrome

“…There are only about 11 cases described in the literature. 6 This is the first report of retinal features in MSS. These ocular changes coincided with other systemic degeneration including mental and cognitive impairment, sensorineural hearing loss, and sleep disorder with the onset of adulthood.…”

Orofacial signs and dental abnormalities in patients with Mulvihill–Smith syndrome

“…[5] Agenesis of the second premolars and the right maxillary central incisors and poor oral health condition were reported in the eleventh case of Mulvihill–Smith syndrome in the literature. [14]…”

“…The first case was described in 1975 [4] and the last in 2011. [14] Seven of the patients were male and 4 were female, and the median age of the subjects was 17 years (range: 4–30). The demographic features of the study population are reported in Table 1.…”

“…[4] Since the recognition of this syndrome, 11 patients have been reported. [4–14] Mulvihill–Smith syndrome is a rare genetic disorder [Online Mendelian Inheritance in Man (OMIM) number: %176690] that is characterized by a progeria-like phenotype. [12] Its inheritance mode is likely to be autosomal recessive, as the syndrome affects females and males and those born to consanguineous parents [9,14] ; however, the causative gene has not yet been identified.…”

“…[4–14] Mulvihill–Smith syndrome is a rare genetic disorder [Online Mendelian Inheritance in Man (OMIM) number: %176690] that is characterized by a progeria-like phenotype. [12] Its inheritance mode is likely to be autosomal recessive, as the syndrome affects females and males and those born to consanguineous parents [9,14] ; however, the causative gene has not yet been identified. [5] The first cases reported by Mulvihill and Smith, [4] Elliott, [6] and Baraitser et al [8] described isolated male patients with no parental consanguinity; however, in 1993, Ohashi et al [9] reported the case of a 30-year-old Japanese woman who was immunodeficient and whose parents were first cousins.…”