Behavioural changes in an adopted teenager

A 22-year-old woman presented with an insidious progressive cognitive decline and a recent, although transient, period of illicit drug use. She had been normal until age 16 years but then had developed learning difficulties, a stiffening of posture and gait and occasional involuntary jerks. She had been adopted in early infancy, with no available birth history or family history. She had initially been referred to the psychiatric clinic and been treated for depressed mood with features of psychosis and suspected catatonia. Her mood had settled but the rigidity, posturing and gait abnormalities had persisted, prompting neurological referral.

On examination, she had disturbed behaviour with poor eye contact and perseveration of speech. She had a stiff truncal posture, spastic gait, intermittent bilateral dystonic hand posturing, mild dysarthria, global rigidity and hyperreflexia.

MR scan of the brain showed bilateral T2 FLAIR (T2-weighted fluid-attenuated inversion recovery) hyperintensities in the head of the caudate nuclei and…

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