Niemann-Pick disease type C

Niemann-Pick disease type C (NP-C) is a lysosomal lipid storage disease (see this term) characterized by variable clinical signs, depending on the age of onset, such as prolonged unexplained neonatal jaundice or cholestasis, isolated unexplained splenomegaly, and progressive, often severe neurological symptoms such as cognitive decline, cerebellar ataxia, vertical supranuclear gaze palsy (VSPG), dysarthria, dysphagia, dystonia, seizures, gelastic cataplexy, and psychiatric disorders.

Vertical supranuclear gaze palsy

A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.

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PMID (PMCID)
18937049	FEMALE	Child
	Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: a case report in Brazil.
	Santos ML, Raskin S, Telles DS, Lohr A Jr, Liberalesso PB, Vieira SC, Cordeiro ML. J Inherit Metab Dis. 2008;31 Suppl 2:S357-61.
	Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lysosomal lipid storage disorder that leads to variable symptoms that include cognitive decline, ataxia, dystonia, cataplexy, vertical supranuclear gaze palsy, and seizures.
12640083	FEMALE	Adult
	Adult onset Niemann-Pick disease type C presenting with psychosis.
	Josephs KA, Van Gerpen MW, Van Gerpen JA. J Neurol Neurosurg Psychiatry. 2003;74(4):528-9.
	Niemann-Pick disease type C (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various movement disorders (ataxia, chorea, dystonia, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and seizures.