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Other features include dystonia, vertical supranuclear gaze palsy, dementia, and psychiatric manifestations.In general, hepatosplenomegaly is less striking than in types A and B, although it can be lethal in some. Foamy Niemann-Pick cells and 'sea-blue' histiocytes with distinctive histochemical and ultrastructural appearances are found in the bone marrow.Contact Us MIMmatch is a way to follow OMIM entries that interest you and to find other researchers who may share interest in the same entries.

Patients with the 'classic' childhood onset type C usually appear normal for 1 or 2 years with symptoms appearing between 2 and 4 years.The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; 257200), the visceral form (type B; 607616), the subacute or juvenile form (type C), and the Nova Scotian variant (type D).In the childhood-onset form, death usually occurs at age 5 to 15 (Brady, 1983, Patterson et al., 2001).

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They gradually develop neurologic abnormalities which are initially manifested by ataxia, grand mal seizures, and loss of previously learned speech.Spasticity is striking and seizures, particularly myoclonic jerks, are common.



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