A woman with ichthyosis, contractures, and progressive neuropathy represents the first case of phosphoserine aminotransferase deficiency diagnosed and treated in an adult. She has novel compound heterozygous mutations in the gene PSAT1. Treatment with high dose oral L‐serine completely resolved the ichthyosis. Consideration of this diagnosis is important because early treatment with L‐serine repletion can halt progression of neurodegeneration and potentially improve neurological disabilities. As exome sequencing becomes more widely implemented in the diagnostic evaluation of progressive neurodegenerative phenotypes, adult neurologists and geneticists will increasingly encounter later onset manifestations of inborn errors of metabolism classically considered in infancy and early childhood.
A 60-year-old woman presented after a fall and was noted to have ascites. She had a history of ulcerative colitis. History and physical examination did not reveal the likely aetiology of the ascites, but a sample showed it to be a blood-stained exudate. A malignant cause appeared likely, cross-sectional imaging was arranged and tumour markers sent. CA125 was 34 IU/ml (0-30); α-fetoprotein (AFP) and carcinoembryonic antigen (CEA) were normal. However, CA19-9 was 2880 U/ml (0-31). Pancreatic carcinoma or cholangiocarcinoma were of prime concern, but a CT scan and MRI imaging were normal. At laparoscopy a benign ruptured ovarian cyst was detected, and ascites drained. CA19-9 returned to normal and the patient remains well 9 months later. This case demonstrates how tumour markers may be misleading in the context of diagnostics, and is the highest reported example of CA19-9 rise in the context of benign ascites and benign ovarian pathology.
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