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Severe complications and gastric carcinoma in Mulvihill-Smith syndrome
  1. OLIVER BARTSCH
  1. Institut für Klinische Genetik, Universitätsklinikum Carl Gustav Carus, Technische Universität, Fetscherstrasse 74, 01307 Dresden, Germany
  2. Klinik für Innere Medizin and Institut für Humangenetik, Medizinische Universität, 23538 Lübeck, Germany
  3. Städtische Kinderklinik, 81545 München-Harlaching, Germany
    1. DIETHER LUDWIG,
    2. EBERHARD SCHWINGER
    1. Institut für Klinische Genetik, Universitätsklinikum Carl Gustav Carus, Technische Universität, Fetscherstrasse 74, 01307 Dresden, Germany
    2. Klinik für Innere Medizin and Institut für Humangenetik, Medizinische Universität, 23538 Lübeck, Germany
    3. Städtische Kinderklinik, 81545 München-Harlaching, Germany
      1. KLAUS-DIETER TYMPNER
      1. Institut für Klinische Genetik, Universitätsklinikum Carl Gustav Carus, Technische Universität, Fetscherstrasse 74, 01307 Dresden, Germany
      2. Klinik für Innere Medizin and Institut für Humangenetik, Medizinische Universität, 23538 Lübeck, Germany
      3. Städtische Kinderklinik, 81545 München-Harlaching, Germany

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        Editor—Little is still known about the long term outcome of the rare, progeria-like disorder of Mulvihill-Smith syndrome (McKusick 176690). In 1994 we described the clinical progress of a patient (fig 1) up to the age of 20 years.1 The patient had facioskeletal and dental abnormalities, severe viral infections, allergic rhinitis and conjunctivitis, visual loss, delayed puberty, modest achievement at school, and reactive depression. We now report the clinical course until his death.

        Figure 1

        Facial view of the patient aged 21 years.

        He attended office clerk training for physically handicapped people but had coordination difficulties, especially in typewriting. His hearing deteriorated and a hearing aid was required. Progressive loss of mobility of the knee joints resulted in a walking disability. He suffered from panic attacks and used tranquillisers. Contact with his peers ceased completely.

        Ophthalmological findings included myopia, astigmatism, dystrophy of the corneal endothelium, and keratoconus diagnosed at 15 years of age.1 Despite chronic conjunctivitis the patient corrected the vision defect with contact lenses. At 20 years of age he was admitted for emergency treatment of a perforated ulcer of the left cornea and was treated by keratoplasty à chaud resulting in good optical rehabilitation.2 He continued wearing contact lenses and in the same year also needed a corneal transplant in the right eye. Strabismus of the left eye was corrected by tenomyotomy. Bilateral cataracts developed and the left cataract was operated on. By the time of death he was almost blind.

        At the age of 23 years 4 months he underwent neurological evaluation because of progressive locomotor ataxia over the past six months. General intelligence was still within the normal range, a finding in line with another recent report of Mulvihill-Smith syndrome.3 Cranial CT scan indicated cerebral tumour metastases.

        Approximately a month later a gastric carcinoma with multiple metastases in the liver and peritoneum was diagnosed. A palliative gastroenterostomy was performed and a biopsy was taken. Histology disclosed gastric carcinoma of the signet ring cell type. Further treatment was not given because of the advanced stage of the carcinoma. From the ages of 13 to 16 years the patient had received growth hormone treatment for short stature. A relationship between this and the tumour was discussed, but a long period of time had elapsed between the administration of growth hormone and the appearance of the tumour making a causal relationship less likely.

        The patient died when he was 23 years 7 months old. No necropsy was performed. Apart from a case of probable Mulvihill-Smith syndrome in a 30 year old woman with immunodeficiency and severe mental retardation,4 this is the oldest patient with Mulvihill-Smith syndrome reported so far. This also is the first observation linking the condition to malignancy and early death. We hope that this report will assist in the clinical management of other patients with the Mulvihill-Smith syndrome.

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