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

Table 6 NPC patients with isolated splenomegaly, without neuropsychiatric symptoms

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
P	G	Sb/Cs	Age at 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
1	M	0	2009	6y	NJa, Sm (3 m)	NR	Y	ND	ND	c.3557G>A/c.3557G>A
1	M	0	1y	6y	NJa, Sm (3 m)	NR	Y	ND	ND	p.R1186H/p.R1186H
2	M	0	2011	6y	HSm (3y)	NR	ND	ND	ND	c.2801G>A/c.2861C>T
2	M	0	3y	6y	HSm (3y)	NR	ND	ND	ND	p.R934Q/p.S954L

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).

ISSN: 1750-1172