Case report, 2001
Can a rare inherited condition cause psychotic episodes that come back with each period?
In this one woman, yes. A rare condition that stops the body breaking down ammonia properly caused repeated psychotic episodes around her periods, and it had been wrongly called PMS for years before a crisis revealed the true cause.
What they did
This is a report on a single patient, an 18-year-old girl in Japan who was admitted to hospital in a deep coma. Doctors looked back at her history and tested her blood, a liver sample, and her genes to find out what was wrong.
What they found
From age 13 she had repeated episodes of excitement, aggression, poor sleep, nausea and vomiting, mostly timed with her periods, previously diagnosed as hysteria and premenstrual syndrome. On admission her blood ammonia was 684 micrograms/dl and her blood urea nitrogen had dropped to 6 mg/dl. Treatment brought ammonia down to 300 within 10 hours, but brain swelling then shrinkage followed. She regained consciousness about a month later but had severe mental impairment. A liver biopsy showed very low activity of the enzyme involved, confirming carbamoyl phosphate synthetase I deficiency, from a gene change inherited from her father.
What it means for you
Symptoms that seem to follow the menstrual cycle, including severe mood and behaviour changes, are not always PMS or PMDD and can sometimes come from a different underlying illness that needs its own treatment. This comes from a single patient, so it cannot tell us how common this is or apply to anyone else.
684
Blood ammonia level on admission (micrograms/dl)
300
Blood ammonia after treatment, within 10 hours (micrograms/dl)
6
Blood urea nitrogen level (mg/dl)
About the study
- Original title
- [A case of late-onset carbamoyl phosphate synthetase I deficiency, presenting periodic psychotic episodes coinciding with menstrual periods]
- Authors
- Wakutani Y, Nakayasu H, Takeshima T et al.
- Journal
- Rinsho shinkeigaku = Clinical neurology
- Year
- 2001
- Study design
- Case report
- What was tested
- No treatment was being tested; this describes one patient's diagnosis and the emergency care she received.
- Read the paper
- https://pubmed.ncbi.nlm.nih.gov/12080609/
Topics
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