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Recalcitrant chronic rhinosinusitis in the setting of fucosidosis, a rare lysosomal storage disorder.

Abstract Fucosidosis is an autosomal recessive lysosomal storage disorder caused by the deficiency of alpha-L-fucosidase. We present the case of an affected female in the second decade of life with chronic rhinosinusitis (CRS) including recalcitrant polypoid inflammation, which has not been previously reported in the literature. With the advancement of life-prolonging measures, children with lysosomal storage disorders may suffer increasingly from CRS due to the lymphohistiocytic and macrophage infiltrate of the paranasal sinus mucosa that resembles severe polypoid inflammation.
PMID
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Authors

Mayor MeshTerms
Keywords

Chronic rhinosinusitis

Fucosidosis

Lysosomal storage disorder

Journal Title international journal of pediatric otorhinolaryngology
Publication Year Start




PMID- 29224764
OWN - NLM
STAT- MEDLINE
DCOM- 20171226
LR  - 20171226
IS  - 1872-8464 (Electronic)
IS  - 0165-5876 (Linking)
VI  - 103
DP  - 2017 Dec
TI  - Recalcitrant chronic rhinosinusitis in the setting of fucosidosis, a rare
      lysosomal storage disorder.
PG  - 5-9
LID - S0165-5876(17)30452-4 [pii]
LID - 10.1016/j.ijporl.2017.09.019 [doi]
AB  - Fucosidosis is an autosomal recessive lysosomal storage disorder caused by the
      deficiency of alpha-L-fucosidase. We present the case of an affected female in
      the second decade of life with chronic rhinosinusitis (CRS) including
      recalcitrant polypoid inflammation, which has not been previously reported in the
      literature. With the advancement of life-prolonging measures, children with
      lysosomal storage disorders may suffer increasingly from CRS due to the
      lymphohistiocytic and macrophage infiltrate of the paranasal sinus mucosa that
      resembles severe polypoid inflammation.
CI  - Copyright (c) 2017 Elsevier B.V. All rights reserved.
FAU - Peng, Tiffany
AU  - Peng T
AD  - Department of Otolaryngology-Head and Neck Surgery, Weill Cornell Medical
      College, NewYork-Presbyterian Hospital, 1305 York Avenue, 5th Floor, New York, NY
      10021, United States.
FAU - Modi, Vikash K
AU  - Modi VK
AD  - Department of Otolaryngology-Head and Neck Surgery, Weill Cornell Medical
      College, NewYork-Presbyterian Hospital, 1305 York Avenue, 5th Floor, New York, NY
      10021, United States.
FAU - Pearlman, Aaron N
AU  - Pearlman AN
AD  - Department of Otolaryngology-Head and Neck Surgery, Weill Cornell Medical
      College, NewYork-Presbyterian Hospital, 1305 York Avenue, 5th Floor, New York, NY
      10021, United States. Electronic address: [email protected]
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20170921
PL  - Ireland
TA  - Int J Pediatr Otorhinolaryngol
JT  - International journal of pediatric otorhinolaryngology
JID - 8003603
RN  - EC 3.2.1.51 (alpha-L-Fucosidase)
SB  - IM
MH  - Adolescent
MH  - Child
MH  - Chronic Disease
MH  - Female
MH  - Fucosidosis/*complications
MH  - Humans
MH  - Inflammation
MH  - Rhinitis/*etiology
MH  - Sinusitis/*etiology
MH  - Tomography, X-Ray Computed
MH  - alpha-L-Fucosidase/deficiency
OTO - NOTNLM
OT  - Chronic rhinosinusitis
OT  - Fucosidosis
OT  - Lysosomal storage disorder
EDAT- 2017/12/12 06:00
MHDA- 2017/12/27 06:00
CRDT- 2017/12/12 06:00
PHST- 2017/06/27 00:00 [received]
PHST- 2017/09/11 00:00 [revised]
PHST- 2017/09/18 00:00 [accepted]
PHST- 2017/12/12 06:00 [entrez]
PHST- 2017/12/12 06:00 [pubmed]
PHST- 2017/12/27 06:00 [medline]
AID - S0165-5876(17)30452-4 [pii]
AID - 10.1016/j.ijporl.2017.09.019 [doi]
PST - ppublish
SO  - Int J Pediatr Otorhinolaryngol. 2017 Dec;103:5-9. doi:
      10.1016/j.ijporl.2017.09.019. Epub 2017 Sep 21.