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Type I Gaucher disease with bullous pemphigoid and Parkinson disease: A case report.

Abstract Gaucher disease (GD) is a rare genetic lysosomal storage disorder inherited in an autosomal recessive pattern. GD is due to the deficiency of a lysosomal enzyme, acid beta-glucosidase (or glucocerebrosidase). Type 1 Gaucher disease (GD1) is characterized by thrombocytopenia, anemia, an enlarged spleen, and liver as well as bone complications (Erlenmeyer flask deformity, osteoporosis, lytic lesions, pathological and vertebral fractures, bone infarcts, and avascular necrosis leading to degenerative arthropathy). The diagnosis is usually made in first decades but is sometimes delayed. Parkinson disease, neoplasia, and immune system abnormalities may be associated with GD1.
PMID
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Authors

Mayor MeshTerms
Keywords
Journal Title medicine
Publication Year Start




PMID- 29595653
OWN - NLM
STAT- MEDLINE
DCOM- 20180411
LR  - 20180411
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Linking)
VI  - 97
IP  - 13
DP  - 2018 Mar
TI  - Type I Gaucher disease with bullous pemphigoid and Parkinson disease: A case
      report.
PG  - e0188
LID - 10.1097/MD.0000000000010188 [doi]
AB  - RATIONALE: Gaucher disease (GD) is a rare genetic lysosomal storage disorder
      inherited in an autosomal recessive pattern. GD is due to the deficiency of a
      lysosomal enzyme, acid beta-glucosidase (or glucocerebrosidase). Type 1 Gaucher
      disease (GD1) is characterized by thrombocytopenia, anemia, an enlarged spleen,
      and liver as well as bone complications (Erlenmeyer flask deformity,
      osteoporosis, lytic lesions, pathological and vertebral fractures, bone infarcts,
      and avascular necrosis leading to degenerative arthropathy). The diagnosis is
      usually made in first decades but is sometimes delayed. Parkinson disease,
      neoplasia, and immune system abnormalities may be associated with GD1. PATIENT
      CONCERNS: A patient known for hepatosplenomegaly with hyperferritinemia, anemia, 
      and thrombocytopenia was admitted for Lewy body dementia and bullous pemphigoid. 
      DIAGNOSES: Type 1 Gaucher disease. INTERVENTION: No specific treatment started.
      OUTCOMES: patient died ten months later due to pneumonia. LESSONS: To the best of
      our knowledge, this is the first case of the association between GD1, bullous
      pemphigoid, and Lewy body dementia. We discuss the central role of
      alpha-synuclein in these pathologies.
FAU - Le Peillet, Damien
AU  - Le Peillet D
AD  - Department of Internal Medicine, Rehabilitation and Geriatrics, University
      Hospital of Geneva, Trois-Chene Hospital, Thonex.
FAU - Prendki, Virginie
AU  - Prendki V
AD  - Department of Internal Medicine, Rehabilitation and Geriatrics, University
      Hospital of Geneva, Trois-Chene Hospital, Thonex.
FAU - Trombert, Veronique
AU  - Trombert V
AD  - Department of Internal Medicine, Rehabilitation and Geriatrics, University
      Hospital of Geneva, Trois-Chene Hospital, Thonex.
FAU - Laffitte, Emmanuel
AU  - Laffitte E
AD  - Department of Dermatology, University Hospital of Geneva.
FAU - Assal, Frederic
AU  - Assal F
AD  - Department of Clinical Neurosciences, University Hospital of Geneva.
FAU - Reny, Jean Luc
AU  - Reny JL
FAU - Serratrice, Christine
AU  - Serratrice C
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
SB  - AIM
SB  - IM
MH  - Gaucher Disease/*complications/*diagnosis
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Parkinson Disease/*complications
MH  - Pemphigoid, Bullous/*complications
EDAT- 2018/03/30 06:00
MHDA- 2018/04/12 06:00
CRDT- 2018/03/30 06:00
PHST- 2018/03/30 06:00 [entrez]
PHST- 2018/03/30 06:00 [pubmed]
PHST- 2018/04/12 06:00 [medline]
AID - 10.1097/MD.0000000000010188 [doi]
AID - 00005792-201803300-00026 [pii]
PST - ppublish
SO  - Medicine (Baltimore). 2018 Mar;97(13):e0188. doi: 10.1097/MD.0000000000010188.