Chronic psychosis in Turner's Syndrome: a case report and a review

Article Abstract:

Turner's syndrome (TS) is characterized by the absence of the second sex chromosome, leaving 45 chromosomes with a single X. As a result, the gonads do not develop, no significant sex hormone is produced, and the sexual tissues retain a female resting state. Girls with TS lack adequate estrogen and do not develop secondary sex characteristics without hormone therapy. Impaired intelligence may occur, but emotional disturbance and psychosis are not characteristic of this disorder. In 2,946 studies of TS, only seven cases of psychosis were reported. It has been hypothesized that the absence of an X chromosome results in some immunity for major psychiatric disturbances. However, since TS is rare, and occurs in only 0.01 percent of newborn girls, this theory is difficult to confirm. The case report of a 59-year-old woman with TS who became chronically psychotic and demented is presented. After a fairly normal childhood, including good academic functioning, she developed epilepsy at age 15. Two years later she began having auditory hallucinations. She was admitted to a mental hospital when she was 28 after episodes of violent behavior. Neurological findings were normal and she was diagnosed with schizophrenia. Her symptoms were controlled with anti-seizure and antipsychotic drugs, and she did well for several years until her mental state began to deteriorate. The patient became osteoporotic and developed diabetes at age 51. By age 57 she was demented, unable to communicate and unable to control her urinary or bowel movements. She also developed bilateral deafness. Examination with computerized tomography demonstrated brain atrophy. It is suggested that when psychotic illness does occur in TS patients, it is the result of brain damage. (Consumer Summary produced by Reliance Medical Information, Inc.)

Psychological aspects, Case studies, Physiological aspects, Brain damage, Turner syndrome

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The myth of elevated serum creatine phosphokinase level and neuroleptic malignant syndrome

Article Abstract:

Neuroleptic malignant syndrome (NMS) is a relatively rare but potentially fatal condition associated with the administration of neuroleptic (antipsychotic) medications. NMS symptoms include rigidity and tremors, high fevers, altered consciousness including coma, and chemical imbalances. It is posited that there is a trend to overdiagnose NMS and to label every neuroleptic overdose as NMS if a raised creatine phosphokinase (CPK) level is found. CPK is an enzyme which is a sensitive marker of muscle injury or stress. For example, CPK serum levels are routinely checked in various muscle disorders and during heart attacks. A limitation of CPK measurement is its lack of specificity, since during hospitalization patients often have elevated serum CPK levels due to intramuscular injections, use of restraints and other forms of stress. Elevated levels have also been reported in patients who have poor reactions to neuroleptics. Many other diseases or minor muscle insults can also lead to CPK leakage, causing serum levels to rise. Therefore, caution is suggested while considering a diagnosis of NMS in patients with elevated CPK serum levels but without fever or other clinical NMS symptoms, especially since NMS is a neuroleptic dose-dependent reaction, and other interpretations of elevated CPK are so non-specific. (Consumer Summary produced by Reliance Medical Information, Inc.)

Diagnosis, Creatine kinase, Neuroleptic malignant syndrome

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