Abstract | BACKGROUND: CASE REPORT: A 58 year-old female, presenting with complex clinical signs ( splenomegaly, dysarthria, dysphagia, ataxia, tongue enlargement, prurigo nodularis, legs lymphedema, pancytopenia and bone marrow foam cells), was misdiagnosed as Niemann-Pick C (NPC) and treated with miglustat (300 mg/day), normalizing neurological symptoms and improving skin lesions and legs lymphedema. Subsequently filipin-staining and molecular analysis for NPC genes were negative. Lipid profiling showed severe deficiency of HDL, 2 mg/dl (n.v. 45-65) and apoAI, 5.19 mg/dl (n.v. 110-170), suggesting TD as a probable diagnosis. Molecular analysis of ABCA1 gene showed the presence of a novel homozygous deletion (c.4464-486_4698 + 382 Del). Miglustat treatment was then interrupted with worsening of some neurological signs (memory defects, slowing of thought processes) and skin lesions. Treatment was restarted after 7 months with neurological normalization and improvement of skin involvement. CONCLUSIONS: These results suggest miglustat as a possible therapeutic approach in this untreatable disease. The mechanisms by which miglustat ameliorates at least some clinical manifestations of TD needs to be further investigated.
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Authors | Annalisa Sechi, Andrea Dardis, Stefania Zampieri, Claudio Rabacchi, Paolo Zanoni, Sebastiano Calandra, Giovanna De Maglio, Stefano Pizzolitto, Valerio Maruotti, Antonio Di Muzio, Frances Platt, Bruno Bembi |
Journal | Orphanet journal of rare diseases
(Orphanet J Rare Dis)
Vol. 9
Pg. 143
(Sep 18 2014)
ISSN: 1750-1172 [Electronic] England |
PMID | 25227739
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- ABCA1 protein, human
- ATP Binding Cassette Transporter 1
- 1-Deoxynojirimycin
- miglustat
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Topics |
- 1-Deoxynojirimycin
(analogs & derivatives, therapeutic use)
- ATP Binding Cassette Transporter 1
(genetics)
- Female
- Humans
- Middle Aged
- Tangier Disease
(diagnosis, drug therapy, genetics)
- Treatment Outcome
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