PMID- 36833288
OWN - NLM
STAT- MEDLINE
DCOM- 20230228
LR  - 20230306
IS  - 2073-4425 (Electronic)
IS  - 2073-4425 (Linking)
VI  - 14
IP  - 2
DP  - 2023 Jan 30
TI  - Treatment Dilemma in Children with Late-Onset Pompe Disease.
LID - 10.3390/genes14020362 [doi]
LID - 362
AB  - In recent years, there has been a significant increase in the diagnosis of 
      asymptomatic Late-Onset Pompe Disease (LOPD) patients, who are detected via 
      family screening or Newborn Screening (NBS). The dilemma is when to start Enzyme 
      Replacement Therapy (ERT) in patients without any clinical sign of the disease, 
      considering its important benefits in terms of loss of muscle but also its very 
      high cost, risk of side effects, and long-term immunogenicity. Muscle Magnetic 
      Resonance Imaging (MRI) is accessible, radiation-free, and reproducible; 
      therefore, it is an important instrument for the diagnosis and follow-up of 
      patients with LOPD, especially in asymptomatic cases. European guidelines suggest 
      monitoring in asymptomatic LOPD cases with minimal MRI findings, although other 
      guidelines consider starting ERT in apparently asymptomatic cases with initial 
      muscle involvement (e.g., paraspinal muscles). We describe three siblings 
      affected by LOPD who present compound heterozygosis and wide phenotypic 
      variability. The three cases differ in age at presentation, symptoms, urinary 
      tetrasaccharide levels, and MRI findings, confirming the significant phenotypic 
      variability of LOPD and the difficulty in deciding when to start therapy.
FAU - Faraguna, Martha Caterina
AU  - Faraguna MC
AUID- ORCID: 0000-0003-3426-2749
AD  - Residency in Pediatrics, University of Milano Bicoccca, 20126 Milano, Italy.
FAU - Crescitelli, Viola
AU  - Crescitelli V
AD  - Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, 
      Italy.
FAU - Fornari, Anna
AU  - Fornari A
AD  - Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, 
      Italy.
FAU - Barzaghi, Silvia
AU  - Barzaghi S
AD  - Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, 
      Italy.
FAU - Savasta, Salvatore
AU  - Savasta S
AD  - Department of Pediatrics and Rare Diseases, Ospedale Microcitemico Antonio Cao, 
      University of Cagliari, 09124 Cagliari, Italy.
FAU - Foiadelli, Thomas
AU  - Foiadelli T
AUID- ORCID: 0000-0003-0961-428X
AD  - Department of Pediatrics, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, 
      Italy.
FAU - Veraldi, Daniele
AU  - Veraldi D
AD  - Department of Pediatrics, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, 
      Italy.
FAU - Paoletti, Matteo
AU  - Paoletti M
AUID- ORCID: 0000-0002-1221-7747
AD  - Neuroradiology Department, IRCCS "C. Mondino Institute of Neurology" Foundation, 
      University of Pavia, 27100 Pavia, Italy.
FAU - Pichiecchio, Anna
AU  - Pichiecchio A
AUID- ORCID: 0000-0002-5654-4088
AD  - Neuroradiology Department, IRCCS "C. Mondino Institute of Neurology" Foundation, 
      University of Pavia, 27100 Pavia, Italy.
FAU - Gasperini, Serena
AU  - Gasperini S
AUID- ORCID: 0000-0001-8743-4407
AD  - Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, 
      Italy.
LA  - eng
PT  - Case Reports
DEP - 20230130
PL  - Switzerland
TA  - Genes (Basel)
JT  - Genes
JID - 101551097
SB  - IM
MH  - Infant, Newborn
MH  - Humans
MH  - Child
MH  - *Glycogen Storage Disease Type II
MH  - Muscle, Skeletal/pathology
MH  - Enzyme Replacement Therapy/methods
MH  - Magnetic Resonance Imaging
MH  - Neonatal Screening/methods
PMC - PMC9957524
OTO - NOTNLM
OT  - Enzyme Replacement Therapy
OT  - Pompe disease
OT  - glycogen storage disease type 2
OT  - late onset
OT  - muscle MRI
COIS- AP received an honorary from Sanofi G-enzyme and Amicus Ther. The other authors 
      declare no conflict of interest.
EDAT- 2023/02/26 06:00
MHDA- 2023/03/03 06:00
PMCR- 2023/01/30
CRDT- 2023/02/25 02:13
PHST- 2022/12/24 00:00 [received]
PHST- 2023/01/10 00:00 [revised]
PHST- 2023/01/25 00:00 [accepted]
PHST- 2023/02/25 02:13 [entrez]
PHST- 2023/02/26 06:00 [pubmed]
PHST- 2023/03/03 06:00 [medline]
PHST- 2023/01/30 00:00 [pmc-release]
AID - genes14020362 [pii]
AID - genes-14-00362 [pii]
AID - 10.3390/genes14020362 [doi]
PST - epublish
SO  - Genes (Basel). 2023 Jan 30;14(2):362. doi: 10.3390/genes14020362.