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Table 6 NPC patients with isolated splenomegaly, without neuropsychiatric symptoms

From: Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years

P G Sb/Cs Year of dg Age at death (†)/ age at last follow up First visceral symptoms (age) Neuro-psychiatric symptoms (age) BMS (Y/ND) Filipin and CEL or CE (Y/ND) Histology and AT (Y/ND) Mutations (NPC1)predicted effect on protein
Age at dg
1 M 0 2009 6y NJa, Sm (3 m) NR Y ND ND c.3557G>A/c.3557G>A
1y p.R1186H/p.R1186H
2 M 0 2011 6y HSm (3y) NR ND ND ND c.2801G>A/c.2861C>T
3y p.R934Q/p.S954L
  1. AT autopsy, BMS bone marrow smear, CE non-LDL-cholesterol esterification test, CEL LDL-cholesterol esterification test, Cs cousin, dg diagnosis, G gender, HSm hepatosplenomegaly, M male, m months, ND not done, NJa neonatal jaundice, NR not reported, P order of patient at the category, Sm splenomegaly, y years, Y yes. Note: italics indicate decisive diagnostic method or methods (if they were performed simultaneously or in quick succession).