Mulvihill-Smith syndrome: case report and review.

Abstract

We report a 20 year old man with short stature, microcephaly, unusual facies, numerous pigmented naevi, hypodontia, immunodeficiency, and a high pitched voice. Tympner et al had assumed that the patient had a new syndrome of "progressive combined immunodeficiency and ectomesodermal dysplasia". We show here that the condition is identical to the Mulvihill-Smith syndrome (McKusick 176690), a progeroid disorder described in four or possibly five sporadic cases to date. We describe his clinical progress up to the age of 20 years. Our patient suffered from severe viral infections, allergic rhinitis and conjunctivitis, delayed puberty, visual loss, modest achievement in high school, and reactive depression. The immunological, facioskeletal, and dental abnormalities are presented in detail.

Mulvihill-Smith progeria-like syndrome: A further report with delineation of phenotype, immunologic deficits, and novel observation of fibroblast abnormalities

“…The normal appearance of the present patient's hair and teeth also contrasts with some of the previous reports. Five previously reported patients have also had sensorineural deafness, which was not present in our patient or the one reported by Bartsch et al [1994]. The milder phenotype of our patient may reflect the early stages of the Mulvihill-Smith syndrome, with the prospect of further deterioration in growth centiles and intelligence in the future; however, it may equally be that he has a milder form of this syndrome that may be underrecognized due to the absence or mildness of the cutaneous features.…”

“…Our patient was above the 10th centile for weight, height, and OFC at birth and at 5 years and remains at the 25th centile for height and the 10th centile for weight. Moderate to severe mental retardation has been reported in some of the previous patients but is not present in this patient, although Bartsch et al [1994] reported that their patient deteriorated intellec- tually with age. Our patient does not have the brachydactyly reported in four previous patients.…”

“…The high-pitched voice noted in this case and in three others [Shepherd, 1971;Mulvihill and Smith, 1975;Bartsch et al, 1994] may reflect the abnormal facial structures. Although he has no evidence of severe immune deficiency clinically, the lymphopenia with reduction of T-cell and B-cell numbers is similar to those previously described [Bartsch et al, 1994]; the in vitro functional immune deficits appear more limited, and the pattern of immunoglobulin abnormalities in our case is restricted to low IgG2 and IgG4 subclasses. Urogenital abnormalities in the other cases include cryptorchidism, hypospadias, undescended testes, and amenorrhoea [Ohashi et al, 1993].…”

“…Since the first report [Mulvihill and Smith, 1975] of a 17-year-old boy with prenatal short stature, pinched face, premature ageing, multiple pigmented nevi, mental retardation, photosensitivity, thin skin, sparse hair, and oligodontia, five other patients [Shepherd, 1971 andElliot, 1975;Wong et al, 1979;Baraitser et al, 1988;Ohashi et al, 1993;Bartsch et al, 1994] with Mulvihill-Smith syndrome have been identified. Table II provides a summary of the phenotype in the present case and the six previous cases in the literature.…”

Ocular complications in Mulvihill–Smith syndrome

“…2,3 Reported ophthalmological findings include astigmatism, myopia, endothelial dystrophy, keratoconus, 4 cataract, 5 amblyopia, and allergic conjunctivitis. We emphasize the unreported features in this ninth case in the literature.…”