Turner syndrome (TS) is an X-linked chromosomal abnormality with a global prevalence of 1/2000 live-born girls. The physiological symptoms of TS have been thoroughly characterized, but only a few studies have described associated psychiatric symptoms. Rödström et al. have recently reported a case in Hindawi Journal, of an adolescent girl who presented with acute mania with psychotic features and was later diagnosed with bipolar syndrome and TS.
History: A 17-year-old girl presented in Emergency Unit with acute manic and psychotic symptoms.She was previously physically healthy except for irregular menstruation and menorrhagia with one occasion of anemia, for which she was treated. In the family history, it was noted that her maternal grandmother had schizophrenia and her grandmothers' mother had committed suicide. At 16 years of age, she had anxiety and a period of obsessive- compulsive disorder. During autumn before admission, the patient experienced fatigue, apathy, sleeping problems, and depressed mood. She was diagnosed with mild depression and received psychosocial support in an outpatient unit.
There was a sudden change in mood and energy from the depressive state to a state with hypomanic symptoms.
Post admission patient had disorganized, incomprehensible speech and incongruent symptoms with fluctuations between irrational laughing and crying. She had auditory hallucinations, a high pulse, and hyperventilation. Patient was managed initially with medical therapy including olanzapine, alimemazine, zuclopenthixol, diazepam, and biperiden but there was poor response to therapy and there was development of catatonia.
A decision on ECT initiation and the patient responded markedly to this therapy. But post cessation of therapy (7th cycle) patient again had a relapse of manic symptoms due to which ECT had to be continued upto 12 cycles.
During follow-up it was noted that the patient had a significant weight gain without a concomitant increase in length at age 12-14. Given a history of menstrual irregularity, it was hypothesized that she might have a hormonal disorder. It was also noted that she had low-set ears and a short neck, and had undergone reconstructive surgery for protruding ears as a child. The psychiatric evaluation revealed that she had developmental-related symptoms including social reservation, and it was revealed that she had a low visuospatial ability. A genetic investigation was therefore performed. The results showed a partial loss in one copy of the X-chromosome, 46X, del (X)(p21), consistent with TS. Genetic analysis of the parents revealed that the patient's mother had a mosaicism for TS in peripheral blood cells (45X/46XX). Since discharge, the patient has been admitted twice to the adult emergency psychiatry for suspected manic episodes. Apart from these episodes, she has been feeling well for several months.
This is the first study to report that ECT could be effective in patients with TS and an acute manic episode and one of very few published reports on a girl with TS who develops an acute manic episode with psychotic features. The present case also demonstrates a possible association between TS and bipolar syndrome and that the clinical presentation of a manic episode in a patient with this comorbidity could be more complex and the treatment response slower.
Source: Hindawi case reports in Psychiatry: https://doi.org/10.1155/2021/3371591