A Case of Turner Mosaic with Myopathy and Schizophrenia

 By E. Slater and K. Zilkha. Proceedings of the Royal Society of Medicine 54: 674‑75 (1961).

    This patient, a single girl aged 19 (Case No. 87810), was admitted to the National Hospital on 20.4.60. Her parents were first cousins; her three sibs are normal, but a maternal uncle's child had had a schizophrenic illness.

    The patient, whose I.Q. is 92, did not do very well at school; and since then has never been fully employable, owing to her slowness. Menstrual history has been normal. Curvature of the spine was first noted at 13 but has not changed signifi­cantly since. Some weakness of the muscles appeared at the same age, and since then she has had difficulty in raising the head from a lying position.

    The psychosis began in 1959, when she changed in attitude to her mother and would lock herself in her room and refuse to see anyone. In May 1959 she had her room redecorated but suddenly starting stripping off the new wallpaper and wrecked the room. In July she burnt all her best clothes and went off to Brighton. Having arrived there she found nowhere to stay, slept at the railway station and returned home next day. A few days later she cut off all her hair as close to the head as possible. On 13.8.59 she was admitted to Netherne Hospital where she was very agitated and disturbed. She was diagnosed as suffering from schizophrenia and treated with Stelazine and reserpine. Affect was recorded as incongruous; at times she was smiling to herself, at times near to tears. No delusions or hallucinations were noted; but there was thought disorder with difficulty in concentration and her talk was at times confused, with frequent interruptions. She eventually settled down, and was then transferred to the National Hospital for investigation of the weakness of the neck.

    On admission, though quiet and slow, she showed no mental abnormality of a schizophrenic kind. On neurological examination there was bilateral facial weakness, severe weakness of both sternomastoids, weakness of the right scapular muscles, the right deltoid and both triceps muscles. Dr. E. A. Carmichael thought the muscular weakness was due to old poliomyelitis; but this was thought unlikely by Dr. R. W. Gilliatt, owing to the symmetrical weakness of the facial muscles and wasting of the sternomastoids. EMG studies of the right deltoid, pectoralis, and rhomboid muscles on two occasions showed in all three muscles slight reduction in motor unit interfer­ence pattern on maximal voluntary effort; the motor units were brief, polyphasic, of reduced amplitude. The changes resembled those of a myopathy. A biopsy specimen from the right deltoid showed no abnormality. The EEG was normal. Otological examination showed moderate bilateral deafness, chiefly in the band 4,000‑8,000 c/s. Vestibular function was normal, apart from some slight general reduction of caloric responses. Dr. C. S. Hallpike reported that the cause was obscure. The Ishihara test was normal. Blood‑films showed typical 'drumsticks' in 10/500; but buccal epithelial cells were chromatin negative. Professor Penrose reported that the blood culture cells might be those of a mosaic Turner's syndrome with about one­fifth of the cells lacking one X chromosome, while the others were probably normal: "The skin culture cells did not seem to support this view, although there seemed to be quite a number of abnormal karyotypes. As this occurs in cultures not infre­quently, I am inclined to discount them and to consider that she probably has the karyotypc of a normal female."

    The syndrome is interesting, combining unaccountable deafness, an unusual form of myopathy and a scoliosis not accounted for by muscular weakness. In view of the positive family history, the schizophrenic illness may be coincidental; as far as we know this is the first case in which schizophrenia has been reported in a case of Turner's syndrome, pure or mosaic. The fact that the patient is the child of first cousins is curious. We wonder whether parental consanguinity can be expected to show in excess in such cases.