Medical case narrative
A 16-year-old whose diagnosis explained everything — and stopped nothing
What happened
A 16-year-old girl in Brussels, Belgium (unnamed in the published report), was admitted to a psychiatric clinic with severe psychosis: auditory hallucinations, visual hallucinations (insects running on walls, unknown people), paranoid delusions of being followed, watched, and threatened, with agitation and anxiety. She carried no formal schizophrenia label in the report, and this entry does not invent one — her earlier labels were different ones: methylphenidate treatment for "attention deficit hyperactivity disorder" in primary school, and at age 11 a motor regression diagnosed as Guillain-Barré syndrome, Miller Fisher type.
What it looked like
Years of signs across systems, each explained separately: two unexplained episodes of an enlarged spleen at ages 1 and 4; mild developmental delay, language problems, and learning difficulties; slow cognitive decline — total IQ 78 at age 7 falling to 60 at age 13; from 15, loss of motor function, ataxia, and swallowing problems; and at 16, on neurological examination, vertical supranuclear gaze palsy — an inability to move the eyes downward properly that is a signature sign. Dysarthria that appeared on antipsychotics was initially attributed to the medication.
What the labs found
The combination — psychosis plus progressive cognitive decline plus the spleen history plus the gaze palsy plus motor loss — prompted testing for Niemann-Pick disease type C, a genetic disorder of cholesterol handling inside cells. Fibroblast filipin staining and DNA sequencing confirmed it: compound heterozygous NPC1 mutations, one known frameshift (printed in the report as Thr124fsX4) and one previously undescribed missense (Cys468Gly). Her NP-C Suspicion Index score was 222 at age 16 — and, calculated retrospectively, would already have been 126 at age 8 and 147 at age 11.
What changed
This is a "diagnosis without rescue" entry, and it is printed as one. Her psychosis was not cured by finding the cause: full remission of the psychotic signs came only on a high-dose depot antipsychotic (olanzapine 300 mg every two weeks) with lorazepam, and after the diagnosis she developed a major depression, treated with antidepressants, which remitted. She received no disease-specific treatment at all — miglustat, the drug used for this condition, was not reimbursed in Belgium for Niemann-Pick C and was not recognised there as a treatment for its psychotic symptoms. In the authors' words, "the neuromotor deterioration could not be stopped ever since." She returned to a specialised school and lives at home. Psychiatry rescued; neurology not.
The test that told the story
Fibroblast filipin staining and NPC1 gene sequencing — prompted when someone assembled the spleen, the eyes, the IQ decline, and the psychosis into one picture.
Sources: Wouters et al., Child and Adolescent Psychiatry and Mental Health 2014;8:20 (full case report, all values); Baglioni et al. 2024, systematic review of psychiatric manifestations in inherited metabolic diseases (one-sentence re-report of this case).