Distinct Niemann-Pick Disease Type C Clinical, Cytological, and Biochemical Phenotype in an Adult Patient With 1 Mutated, Overexpressed NPC1 Allele
J. inborn errors metab. screen
;
3: e150005, 2015. graf
Article
in English
|
LILACS-Express
| LILACS
| ID: biblio-1090873
ABSTRACT
Abstract Niemann-Pick disease type C (NP-C) is a rare autosomal-recessive neurovisceral lysosomal storage disease. We report on a juvenile onset, now 25-year-old female patient with typical neurologic symptoms, including vertical gaze palsy, of NP-C. The diagnosis was supported by a positive filipin test ("variant biochemical phenotype" of cholesterol accumulation) in cultured fibroblasts, high numbers of "Niemann-Pick cells" in the bone marrow, and 1 positive out of 3 NP-C biomarkers tested, but NP-C was not definitely confirmed genetically. She showed only 1 known NPC1 variant (3 bp deletion in exon 18; p.N916del); this allele, however, being distinctly overexpressed at the messenger RNA level as compared to the wild-type allele, as a not as yet clarified (copathogenic?) phenomenon. The patient's mother, also carrying the p.N916del allele but without overexpression, has a chronic inflammatory disease of the central nervous system classified as multiple sclerosis. However, her severe clinical phenotype includes some signs also consistent with NP-C. The laboratory diagnosis of NP-C can be challenging in detecting novel disease constellations.
Full text:
Available
Index:
LILACS (Americas)
Language:
English
Journal:
J. inborn errors metab. screen
Journal subject:
Medicina Cl¡nica
/
Patologia
Year:
2015
Type:
Article
Affiliation country:
Austria
/
Germany
Institution/Affiliation country:
Donauspital+AT
/
University Hospital Graz/AT
/
University Hospital Tübingen/DE
/
University of Tübingen/DE
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