Diagnosis and Supportive Management of Fucosidosis: A Case Report.
| Autor: | Kaur A; General Medicine, Sibia Healthcare Pvt. Ltd., Sangrur, IND., Dhaliwal AS; General Medicine, Madhu Nursing Home, Patiala, IND., Raynes H; Pediatric Neurology, Mount Sinai Hospital, New York, USA., Naidich TP; Radiology, Mount Sinai Hospital, New York, USA., Kaufman DM; Pediatric Neurology, Mount Sinai Hospital, New York, USA. |
|---|---|
| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2019 Nov 12; Vol. 11 (11), pp. e6139. Date of Electronic Publication: 2019 Nov 12. |
| DOI: | 10.7759/cureus.6139 |
| Abstrakt: | Fucosidosis is a lysosomal storage disease, resulting from a deficiency of the enzyme alpha-L-fucosidase. We present the case of an affected female with numerous manifestations, clinically and radiographically. In fucosidosis, advanced interventions are not always necessary to have rewarding outcomes. In fact, early diagnosis and management of the symptoms with a multi-systemic supportive care approach can improve the quality of life and may also prolong the life of those patients diagnosed with fucosidosis. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2019, Kaur et al.) |
| Databáze: | MEDLINE |
| Externí odkaz: |
|