Naslov
Dopamine transport system imaging is pathologic in Niemann-Pick type C-case report

Autori
Tomic, Svetlana

Izvornik
Neurological sciences (1590-1874) 39 (2018), 6; 1139-1140

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, pismo, znanstveni

Ključne riječi
Niemann Pick type C ; dopamine transport system imaging

Sažetak
Niemann-Pick disease is an autosomal recessive progressive cellular lipid trafficking disorder caused by NPC1 and NPC2 gene mutations. The disease is characterized by a wide variability in the age at onset, clinical expression, and lifespan. A female patient born in 1953 was diagnosed with Niemann-Pick disease type C (NP- C) in April 2017. Her symptoms starts in 1996 and worsened gradually, with vertical supranuclear gaze palsy, severe dysarthria, dysphagia, bradykinesia without decrement, rigor of neck muscles, limb and body ataxia, incontinence, dementia, visual and hearing hallucinations with the sense of fear and depression. Besides neurologic and psychiatric symptoms, till 2006 she developed chronic renal insufficiency. Diagnostic work-up included dopamine transport imaging (DaTSCAN) that showed unilateral deficit of striatal DAT grade I on the right side. Biopsy was not performed, so data on kidney deposits were not available. Dopamine transport system imaging is damaged in patients with NP-C as a consequence of substantia nigra neuronal damage. There is no clear evidence for renal involvement in NP-C patients yet.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA