Medical case narrative
An 18-year-old admitted as "disorganised schizophrenia" — it was a white-matter disease
What happened
An 18-year-old girl in Maribor, Slovenia (unnamed in the published report), was admitted to a child and adolescent psychiatry unit with suspected disorganised (hebephrenic) schizophrenia. Her symptoms had begun at 17, about a year earlier: laughing without reason, silly and disorganised behaviour, inappropriate emotional responses, grimacing, social withdrawal and shutting herself in her room, and auditory hallucinations in the form of a running commentary on her behaviour. The picture met the diagnostic criteria for disorganised schizophrenia and persisted about nine months, without marked cognitive signs at first. Her school performance — always below average — collapsed in the three months before admission; she became disoriented and got lost several times.
What it looked like
A textbook disorganised schizophrenia presentation in a teenager — until the medical findings accumulated: urinary incontinence and dyspraxia at admission; elevated spinal-fluid protein (0.77 g/L); an abnormal EEG; abnormal reflexes; CT and MRI showing advanced cortical atrophy and diffuse white-matter changes; a peroneal nerve conduction velocity of 23 m/s (reference 44–57); gallbladder polyps on ultrasound.
What the labs found
Once neuropsychological testing showed severe global impairment, an inherited metabolic workup was done. Her leukocyte arylsulfatase A — an enzyme — measured 0.05 nmol/min per mg (reference 1.1–8.7), and her urinary sulfatides measured 609 nmol/L (reference 5–148, about a ten-fold elevation): adult metachromatic leukodystrophy, a genetic white-matter disease. Testing her family because of her found the same biochemical disease in her 25-year-old sister (arylsulfatase A 0.16; sulfatides 436), whose only symptom had been a single four-week postpartum depression years earlier.
What changed
The honest ending is the point of this entry: the diagnosis explained her illness; it did not rescue her. Her psychosis in fact improved on a small dose of risperidone — an antipsychotic — within weeks, before the metabolic diagnosis was even made, and no disease-modifying treatment for the leukodystrophy is reported for her. As the psychosis cleared, the severe cognitive impairment underneath became obvious and remained: full-scale IQ in the severe range, with severe impairment across attention, perception, executive function, communication, motor skills, and memory, and an inability to perform simple routine operations independently. Too late for cognition — printed plainly, because that is what the record shows.
The test that told the story
Leukocyte arylsulfatase A activity and urinary sulfatides — the metabolic screen that came only after the schizophrenia label.
Sources: Gregoric Kumperscak et al., Journal of Psychiatry & Neuroscience 2005 (case report of both sisters, all values); Gregoric Kumperscak et al., Journal of International Medical Research 2008 (a follow-on genetic study of the same two sisters by a partly overlapping team).