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This page is an AI-assisted Turkish summary of the study presented at the 26th World Congress of Psychiatry. The study belongs to the presenting authors; please refer to the original source when citing it.

EV0877

Alexander disease with an atypical psychiatric onset presenting as first-episode psychosis: a case report

ATYPICAL PSYCHIATRIC-ONSET ALEXANDER DISEASE PRESENTING AS FIRST-EPISODE PSYCHOSIS: A CASE REPORT

Late-onset Alexander disease, a rare leukodystrophy, may present as first-episode psychosis with prominent psychotic symptoms and only subtle neurological signs.

The aim is to illustrate, through a case of late-onset Alexander disease, how organic etiologies may be overlooked in first-episode psychosis. Alexander disease is a progressive leukodystrophy and the only known primary genetic disorder of astrocytes; it is usually caused by de novo mutations in the glial fibrillary acidic protein (GFAP) gene on chromosome 17q21. More than 95% of cases carry a GFAP variant, and the estimated five-year prevalence is approximately 1 in 2.7 million. Mutant GFAP accumulates in the form of Rosenthal fibers, disrupting the astrocyte cytoskeleton and causing demyelination. In a classification based on 215 genetically confirmed patients, Type I has an earlier onset and a more severe course, whereas Type II can begin at any age and is characterized by bulbar, cerebellar, and oculomotor symptoms. The reported case concerns a 39-year-old man with no medical history other than a lumbar compression fracture. He presented with acute auditory hallucinations, paranoia, and disorganized behavior. A workup for organic causes, including blood tests and cerebrospinal fluid analysis, was largely unremarkable, while neurological examination revealed dysarthria and subtle asymmetric hypertonia, more pronounced on the left. Magnetic resonance imaging showed white matter changes consistent with a diffuse leukodystrophy pattern, peridentate involvement, thinning of the medulla oblongata, and signal abnormalities in the midbrain. Genetic testing identified a heterozygous pathogenic GFAP mutation, confirmed by Sanger sequencing. As there is no disease-specific treatment, management is symptomatic and supportive. Given the existing brainstem pathology and bulbar and pyramidal signs, low-dose second-generation antipsychotics were recommended to minimize extrapyramidal adverse effects and lowering of the seizure threshold. In this case, a good clinical response was achieved with amisulpride and olanzapine.

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