Niemann-Pick type C disease (NPCD) is a rare metabolic illness, withautosomal recessive inheritance. NPCD has a heterogeneous presentation, withnon-specific psychiatric symptoms, mostly affective and psychotic featuresand also cognitive deficits.

We present the case reports of two brothers with an adolescent-adult onsetand discuss the evolution of their neuropsychiatric manifestations.

The patients have now 35 and 31 years old and the youngest was the first todevelop clinical manifestations of the disease. From 16 years old, hedeveloped unspecified neurological impairment with gait imbalance. In thenext years, the neurologic manifestations exacerbated, with dysarthria,ataxic gait, and his academic performance declined. With 24 years old, hepresented acute psychosis, with unstructured delusion and auditoryhallucinations. The acute psychotic symptomatology remitted with olanzapinebut he revealed social withdrawal, apathy and progressive cognitive declinethat persist until now. His brother, whose diagnosis was made in the courseof the family genetic study, developed the first signs of the NPCD with 19years old. He presented neuropsychiatric compromise, with impaired learning,social isolation and insomnia. They are receiving specific treatment withmiglustat and symptomatic treatment for the psychiatric manifestations.

NPCD is a rare metabolic disease, with neuropsychiatric compromise. Nogeneral psychopathological profile has been associated to NPCD. Sometimespsychiatric symptoms dominate the initial clinical presentation, withneuro-visceral signs appearing later. An atypical psychiatric symptomatologyshould be extensively investigated in order to exclude organic causes,including metabolic diseases like NPCD.

The authors have not supplied their declaration of competing interest.