Diagnosis and Supportive Management of Fucosidosis: A Case Report

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 outcome...

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Published inCurēus (Palo Alto, CA) Vol. 11; no. 11; p. e6139
Main Authors Kaur, Arpanjeet, Dhaliwal, Arshdeep S, Raynes, Hillary, Naidich, Thomas P, Kaufman, David M
Format Journal Article
LanguageEnglish
Published United States Cureus Inc 12.11.2019
Cureus
Subjects
Age
Bone marrow
Botulinum toxin
Case reports
Convulsions & seizures
Endoscopy
Enzymes
Gastroesophageal reflux
Genetics
Infections
Massage
Medical diagnosis
Mutation
Neurology
NMR
Nuclear magnetic resonance
Ostomy
Pediatrics
Pneumonia
Polyps
Quality of life
Scoliosis
Spectrum analysis
Stem cells
Transplants & implants
Umbilical cord
fuca1
supportive management
diagnosis
fucosidosis
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Summary: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.
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.6139