Niemann-Picks sjukdom typ C. Sällsynt men möjlig diagnos vid psykiatrisk och neurologisk sjukdom hos vuxna
Sammanfattning
Niemann-Pick type C disease. Rare but possible diagnosis in adult neurology and psychiatry
Niemann-Pick type C disease (NPC) is an autosomal recessive lysosomal disease. NPC may present with neurological or psychiatric symptoms in adults. The most common presenting signs are psychiatric problems. A correct NPC diagnosis may enable specific treatment. NPC is diagnosed at specialized laboratories using filipin staining of cultured fibroblasts and genetic analysis. Here we report on a patient debuting in his teens with psychotic symptoms, but not receiving a correct diagnosis of NPC until 25 years later. Genetic analysis showed that he was compound-heterozygous for two previously not described NPC1-mutations (c.1607C>T and c.3318G>A) with high predicted pathogenicity. The patient improved clinically after miglustat treatment. To our knowledge, this is the first reported Swedish NPC-patient with an adult disease onset. Doctors should be aware of the possibility of NPC as a differential diagnosis in adult neurology and psychiatry.