Klinik Psikiyatri Dergisi, vol.26, no.1, pp.69-75, 2023 (ESCI)
Metachromatic leukodystrophy is a rare inherited disorder of the nervous system with great clinical variability characterized by loss of both cognitive and motor functions upon extensive white matter damage by the accumulation of sulfatides. Although metachromatic leukodystrophy usually affects children, many cases of adult leukodystrophy have been reported in the literature in the last few years. Adult-onset leukodystrophy typically presents with a progressive syndrome that includes various combinations of cognitive impairment, spasticity, apraxia, ataxia, and upper motor neuron manifestations. In this article, we decided to present this case to draw attention to the fact that the adult form of metachromatic leukodystrophy, which presents with psychotic symptoms and behavioural problems, should be considered in the differential diagnosis of psychotic pictures. In a 48-year-old male patient who did not have any psychiatric or neurological problems before, symptoms such as meaningless shouting, running away from home, restlessness, and audio-visual hallucinations were added to the clinical picture that started with confusion and disorganized behaviour in a short time. MRI, plasma aryl sulfatase A level (ARSA) and gene analysis were performed for differential diagnosis in the patient. It is known that the patient has a sibling who died before the age of one, and two nephews diagnosed with an autism spectrum disorder. Heterozygous c.1283C>A (p P428Q) mutation was detected in the patient, which was not previously reported in the literature or mutation databases. The chromosomal region-22q13.33- in which the ARSA gene with this mutation is located is also a candidate region for autism. In this respect, it was thought that this mutation might be related to disorganized behavioural problems.