Medical case narrative
A 17-year-old whose dislocated eye lens was the clue nobody read
What happened
A 17-year-old girl in Italy (unnamed in the published report) presented with acute psychosis: visual hallucinations, behavioural perseveration, psychomotor hyperactivity, and affective inappropriateness. Her psychotic symptoms were treated first as a primary psychiatric illness and proved unresponsive to conventional antipsychotic drugs. Her shape differs from most of this batch and is printed honestly: there was no long prior psychiatric label — the psychosis itself was the presenting problem, and the metabolic workup happened within that episode, after the antipsychotics failed.
What it looked like
Acute psychosis in an adolescent who did not respond to standard medication — and, in her record for years, a sign that in hindsight was the tell: ectopia lentis, a dislocated lens in her eye, diagnosed several years before the psychosis and never considered as a possible sign of a metabolic disorder. A dislocated lens in a young person is a classic marker of homocystinuria, and the authors frame it — with or without learning difficulties — as the target sign that should trigger testing.
What the labs found
Metabolic testing diagnosed homocystinuria due to cystathionine-β-synthase (CBS) deficiency — a genetic disorder of amino-acid processing in which homocysteine builds up. Her exact plasma homocysteine and methionine values, her gene variant, and her treatment doses do not appear in the accessible summary of the report, and this entry quotes none — figures circulating in other homocystinuria cases are not hers and are not borrowed.
What changed
Her psychotic symptoms were relieved after pyridoxine (vitamin B6) and folic acid treatment, and the paper's stated finding is complete remission of the psychotic symptoms with pharmacological-dose pyridoxine and folic acid, without antipsychotic drugs. "Remitted after" is as far as a single uncontrolled case lets this entry go, and that is how it is written.
The test that told the story
The metabolic workup for homocystinuria (CBS deficiency) — the workup her dislocated lens should have triggered years earlier.
Sources: Colafrancesco et al., European Journal of Pediatrics 2015;174:1263–1266 (case report, abstract); Medscape review of homocystinuria re-reporting this case, with further analytic citation in "Revising the Psychiatric Phenotype of Homocystinuria," Genetics in Medicine.