Localised duplications, involving the MECP2 locus, at Xq28 have been associated with a syndrome comprising X-linked mental retardation, hypotonia and recurrent infections in males. We now present neuroradiological evidence that progressive cerebellar degenerative changes may also be a consistent feature of this syndrome, emerging in the second decade of life. We report seven affected males, from three different families who, in addition to the previously described clinical findings, have a reduction in the volume of the white matter and mild dilatation of the lateral ventricles. Three of the older patients show a consistent cerebellar degenerative phenotype. Furthermore, we describe the first female affected with the disorder. The female was mildly affected and shows X-inactivation in the ratio of 70:30, demonstrating that X-inactivation cannot be exclusively relied upon to spare the female carriers from symptoms. In conclusion, there is a radiological phenotype associated with Xq28 duplication which clearly demonstrates progressive degenerative cerebellar disease as part of the syndrome.

Summary.Following the widespread outbreaks of oyster-associated gastroenteritis which occurred throughout Australia in 1978, several programmes were introduced to minimise the occurrence of further outbreaks. One programme included the depuration (purification) of oysters and the use of human volunteers to testconsume samples from batches of depurated oysters before their sale to the public. Oysters from the Georges River and Brisbane Waters were test-consumed from December, 1978, to August, 1979. None of the volunteers was ill after consuming Brisbane Waters oysters but 52 reported ill after eating Georges River oysters. The predominant symptoms were nausea, vomiting and diarrhoea with an average incubation period of 42 hours. Recovery was usually complete in 36-48 hours. Of the 52 illnesses reported 31 (60%) occurred in two particular weeks ending July 1st and 22nd when rates of 18 3% and 7 8% were reported. The average illness rate for the remainder of the period under study was only 1 %. Norwalk virus was found in 8 of 25 (32%) stools, and antibody increases demonstrated in seven of ten paired sera, giving an overall diagnostic rate for Norwalk infection of 37 0% for these two peak periods. Heavy rain preceded these two weeks in which the illnesses occurred. No evidence of Norwalk infection was found at any other time.These studies confirmed the epidemiological findings of the major outbreak of gastroenteritis in 1978, and showed that only Georges River oysters caused Norwalk virus infections and that depuration as carried out in 1979 was not entirely satisfactory.

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