Pearls & Oy-sters: Niemann-Pick disease type C in a 65-year-old patient

Very Late‐Onset Niemann Pick Type C Disease: Example of Progressive Supranuclear Palsy Look‐Alike Disorder

“…7,11 NPC should be considered in the differential diagnosis of late-onset vertical gaze palsy among more common disorders (such as PSP) to minimize diagnostic and therapy delay. 11 In the presented case, the presence of chorea and the absence of parkinsonism are clinical findings against a PSP diagnosis. However, according to the recently published Movement Disorder Society criteria, 12 our patient had core clinical PSP features (repeated unprovoked falls within 3 years and VSGP) and therefore fulfilled the clinical criteria for probable PSP.…”

A Rare Case of Late Adult-Onset Niemann-Pick Disease Type C

“…Dear Editor, Niemann-Pick disease type C (NPC) is an autosomal recessive neurodegenerative disorder caused by mutation of either NPC1 (> 95% of cases) or NPC2. 1,2 Mutations in these genes lead to massive accumulation of cholesterol and glycosphingolipids within late endosomes and lysosomes. 1 NPC is characterized by heterogeneity in age at onset, which is related to variance in clinical presentation and progression.…”

“…1 NPC is characterized by heterogeneity in age at onset, which is related to variance in clinical presentation and progression. 2 Patients with NPC are classified into 5 subgroups on the basis of age at onset: pre/perinatal (< 2 months), early-infantile (2 months to 2 years), late-infantile (2 years to < 6 years), juvenile (6 years to 15 years), and adolescent/adult (> 15 years). 1,2 Adult-onset NPC shows a wide spectrum of neurological symptoms such as vertical supranuclear gaze palsy (VSGP), ataxia, dystonia, cognitive decline and psychosis, and less commonly visceral involvement.…”

“…2 Patients with NPC are classified into 5 subgroups on the basis of age at onset: pre/perinatal (< 2 months), early-infantile (2 months to 2 years), late-infantile (2 years to < 6 years), juvenile (6 years to 15 years), and adolescent/adult (> 15 years). 1,2 Adult-onset NPC shows a wide spectrum of neurological symptoms such as vertical supranuclear gaze palsy (VSGP), ataxia, dystonia, cognitive decline and psychosis, and less commonly visceral involvement. 3 In clinical practice, adult-onset NPC is easily misdiagnosed or neglected due to rarity and clinical heterogeneity of this condition.…”

“…4 In particular, late adult-onset NPC is very rare, and thus its clinical characteristics remain unclear. 2 Early diagnosis of NPC is important because treatment with miglustat has been shown to stabilize disease progression. 2 Herein, we present a patient with late adult-onset NPC who had onset of symptoms at 57 years of age.…”