caa a22 4500 467933499 CHVBK 20180406152950.0 cr unu---uuuuu 170328e20060801xx s 000 0 eng 10.1007/s10545-006-0330-z doi (NATIONALLICENCE)springer-10.1007/s10545-006-0330-z Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder? [Elektronische Daten] [L. Dvorakova, J. Sikora, M. Hrebicek, H. Hulkova, M. Bouckova, L. Stolnaja, M. Elleder] Summary: We present the third case of Niemann-Pick disease type C without neurological symptoms. The patient was a 53-year-old woman without significant prior health problems who died of acute pulmonary embolism. Autopsy findings of hepatosplenomegaly, lymphadenopathy and ceroid-rich foam cells raised the suspicion of the visceral form of acid sphingomyelinase deficiency (Niemann-Pick disease type B; NPB) or a much rarer disorder, variant adult visceral form of Niemann-Pick disease type C (NPC). To verify the histopathological findings, SMPD1, NPC1 and NPC2 genes were analysed. Two novel sequence variants, c.1997G>A (S666N) and c.2882A>G (N961S) were detected in the NPC1 gene. No pathogenic sequence variants were found either in the SMPD1 gene mutated in NPB or in NPC2 gene. The pathogenicity of both NPC1 variants was supported by their location in regions important for the protein function. Both variations were not found in more than 300 control alleles. Identified sequence variations confirm the diagnosis of the extremely rare adult visceral form of Niemann-Pick disease type C, which is otherwise dominated by neurovisceral symptoms. Although only three patients have been reported, this (most probably underdiagnosed) form of NPC should be considered in differential diagnosis of isolated hepatosplenomegaly with foam cells in adulthood. SSIEM and Springer, 2006 Dvorakova L. Institute of Inherited Metabolic Disorders, Charles University, First Faculty of Medicine and University Hospital, Prague, Czech Republic aut Sikora J. Institute of Inherited Metabolic Disorders, Charles University, First Faculty of Medicine and University Hospital, Prague, Czech Republic aut Hrebicek M. Institute of Inherited Metabolic Disorders, Charles University, First Faculty of Medicine and University Hospital, Prague, Czech Republic aut Hulkova H. Institute of Inherited Metabolic Disorders, Charles University, First Faculty of Medicine and University Hospital, Prague, Czech Republic aut Bouckova M. Institute of Inherited Metabolic Disorders, Charles University, First Faculty of Medicine and University Hospital, Prague, Czech Republic aut Stolnaja L. Institute of Inherited Metabolic Disorders, Charles University, First Faculty of Medicine and University Hospital, Prague, Czech Republic aut Elleder M. Institute of Inherited Metabolic Disorders, Charles University, First Faculty of Medicine and University Hospital, Prague, Czech Republic aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 591-591 0141-8955 29:4<591 2006 29 10545 https://doi.org/10.1007/s10545-006-0330-z text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0330-z text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Dvorakova L. Institute of Inherited Metabolic Disorders, Charles University, First Faculty of Medicine and University Hospital, Prague, Czech Republic aut NATIONALLICENCE 700 1- Sikora J. Institute of Inherited Metabolic Disorders, Charles University, First Faculty of Medicine and University Hospital, Prague, Czech Republic aut NATIONALLICENCE 700 1- Hrebicek M. Institute of Inherited Metabolic Disorders, Charles University, First Faculty of Medicine and University Hospital, Prague, Czech Republic aut NATIONALLICENCE 700 1- Hulkova H. Institute of Inherited Metabolic Disorders, Charles University, First Faculty of Medicine and University Hospital, Prague, Czech Republic aut NATIONALLICENCE 700 1- Bouckova M. Institute of Inherited Metabolic Disorders, Charles University, First Faculty of Medicine and University Hospital, Prague, Czech Republic aut NATIONALLICENCE 700 1- Stolnaja L. Institute of Inherited Metabolic Disorders, Charles University, First Faculty of Medicine and University Hospital, Prague, Czech Republic aut NATIONALLICENCE 700 1- Elleder M. Institute of Inherited Metabolic Disorders, Charles University, First Faculty of Medicine and University Hospital, Prague, Czech Republic aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 591-591 0141-8955 29:4<591 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer