Abstract

A 19-year-old male with 22q11.2 deletion syndrome presented with a 4-year history of cognitive decline and symptoms suggestive of atypical psychosis.

Potential for elevated homocysteine and NMDA-receptor antibodies in the pathogenesis of his symptoms was investigated.

He had elevated blood homocysteine level (18.7 μmol/l), low-normal vitamin B12 and folate levels and was positive for NMDA-receptor antibodies.

Treatment with daily folinic acid (0.8 mg) and vitamin B12 (1 mg) led to dramatic improvement in his cognitive and behavioural presentation.

Subsequent plasma exchange resulted in a further, significant clinical improvement.

Homocysteine levels and NMDA-R antibodies should be investigated as potential causes of behavioural and cognitive symptoms in patients with 22q11.2 deletion syndrome.

Citations

Simon Vann Jones, Subimal Banerjee, A David Smith, Helga Refsum, Belinda Lennox; Elevated homocysteine and N-methyl-D-aspartate-receptor antibodies as a cause of behavioural and cognitive decline in 22q11.2 deletion syndrome, Oxford Medical Case Reports, Volume 2017, Issue 12, 1 December 2017, omx076

DOI: https://doi.org/10.1093/omcr/omx076

URI: https://www.oxfordhealth.nhs.uk/orka/title/elevated-homocysteine-and-n-methyl-d-aspartate-receptor-antibodies-as-a-cause-of-behavioural-and-cognitive-decline-in-22q11-2-deletion-syndrome/