Absence of typical images and progressive psychiatric manifestations may suggest the diagnosis of neurodegeneration associated with pantothenate kinase deficiency

Abstract

Neurodegeneration associated with pantothenate kinase deficiency is a rare disease. To confirm its diagnosis, studies are needed that are often not available in all countries and times (as in this case). Clinical case: In the Child Psychiatry ward of the "Juan Manuel Márquez" Pediatric Hospital, an adolescent was treated with psychiatric disorders of psychotic functioning level with little response to treatment, extrapyramidal manifestations and other progressive neurological dysfunction. The classic image of "tiger eyes" was evidenced by magnetic resonance imaging of the skull, at the beginning unilateral, and at 10 months it was performed again, verifying the bilateral image, in addition to significant cognitive, language, communication and loss of skills deterioration. With regression, affective symptoms and sleep disorder. Conclusions: Although neurodegeneration associated with pantothenate kinase deficiency is a rare disease and in the present case it could only be considered probable, it should be included in the differential diagnosis of children and adolescents with the progression of clinical manifestations, including extrapyramidal dysfunction. dementia, even in the absence of a tiger-eye image at the onset of manifestations or its unilateral presence. Psychiatric manifestations were the cause of admission from the start, and their persistence and poor response to treatment may be a manifestation that alerts to the presence of this disease.