Sir,

Mulvihill–Smith is an ageing syndrome with short stature, skin nevi,1 immunodeficiency, genital abnormalities, hearing loss, and diabetes.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.

Case report

A 29-year-old Japanese woman presented with decreased vision and grittiness OU. The previously reported descriptive features of this syndrome, such as progeroid appearance, microcephaly, short stature, diffuse multiple pigmented nevi on the face and trunk (Figure 1a and b), sleep disorder, sensorineural deafness, high-pitched voice, non-insulin-dependent diabetes, history of recurrent otitis media, and pulmonary infections, allowed us to diagnose the syndrome in our patient. Although immunodeficiency is a feature of this syndrome, IgG, IgA, IgM levels, PHA stimulation test, and lymphocyte subpopulation analysis were unremarkable. The new, previously unreported systemic features in the medical history of our case include severe shingles, retrolingual swelling, which proved to be a granuloma on biopsy, pseudopapillary cystic pancreatic tumour and a 2-cm right cerebellar mass (Figure 1c) found incidentally on a head MRI that remained constant in size over 3 years, and low serum Mn-SOD levels measured on two occasions (248 and 150 ng/ml, respectively; normal value: 402 ng/ml). The new unreported ocular findings include dry eye disease evidenced by elevated tear evaporation rates (6.7 × 10−7 g/cm2/s) and low Schirmer test levels (<5 mm) OU, band keratopathy, bilateral posterior subcapsular cataracts, and meibomian gland disease evidenced by lid telangiectasia, orifice closure, and marked meibomian gland drop-out compared with normal individuals in lid transillumination (Figure 2a–d). Confocal microscopy of the eyelids performed by us as described previously6 also showed meibomian atrophy and inflammation (Figure 2e). The patient expired in February 2009 owing to pulmonary infection and cardiac failure.

Figure 1
figure 1

(a) Note the short stature. (b) Progeroid facies, multiple facial pigmented nevi, microcephaly, and mild micrognathism. (c) Magnetic resonance image (MRI) of the patient's cerebellum showing a 2 cm right cerebellar mass (white arrow).

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Figure 2
figure 2

(a) Biomicroscopy image of the OS cornea showing band keratopathy. (b) Note the vascularization and thickening of eyelid margins with closure of meibomian gland orifices. (c) Blue arrows point to areas of meibomian gland loss in meibography. (d) Normal transillumination image of the control subject; note the intact dark rows of meibomian glands. (e) HRTII-RCM in vivo confocal microscopy images of the eyelids showing atrophy of the meibomian acinar units (yellow stars), with the red arrow pointing to the periglandular inflammatory cell infiltrates.

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Comment

Band keratopathy, posterior subcapsular cataract, meibomian gland, and dry eye disease are the newly described ophthalmic features of this rare syndrome, in which a sporadic mutation is suggested to be the genetic basis.5 Oxidative stress disorder due to low Mn-SOD levels may be an explanation for the ageing manifestations of this syndrome.