PMID- 30243016
OWN - NLM
STAT- MEDLINE
DCOM- 20190121
LR  - 20190121
IS  - 2191-0251 (Electronic)
IS  - 0334-018X (Linking)
VI  - 31
IP  - 10
DP  - 2018 Oct 25
TI  - Hypogammaglobulinemia and imaging features in a patient with infantile free 
      sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene.
PG  - 1155-1159
LID - 10.1515/jpem-2017-0397 [doi]
AB  - Background Infantile free sialic acid storage disease (ISSD) is a severe 
      multisystemic disorder characterized by the accumulation of free sialic acid in 
      lysosomes. Case presentation The patient presented prenatally with fetal ascites 
      and large scrotal hernias, without pleural or pericardial effusion. During the 
      infantile period, he was diagnosed with permanent isolated immunoglobulin G (IgG) 
      hypogammaglobulinemia, which thus far has rarely been associated with ISSD. The 
      analysis of the SLC17A5 gene revealed a novel homozygous 94 bp gene deletion. We 
      further provide a detailed description of pre- and postnatal clinical and 
      radiographic findings. Conclusions Fetal ascites could be the first sign of 
      several lysosomal storage diseases (LSDs), including ISSD. The analysis of LSD 
      gene panels is an effective approach to diagnosis in the case of non-specific 
      symptoms and when specific biochemical tests are not easily available.
FAU - Zigman, Tamara
AU  - Zigman T
AUID- ORCID: 0000-0003-1184-8798
AD  - Department of Pediatrics, University Hospital Center Zagreb, Kispaticeva 12, 
      10000Zagreb, Croatia, Phone: +38512367740.
FAU - Petkovic Ramadza, Danijela
AU  - Petkovic Ramadza D
AD  - Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia.
AD  - University of Zagreb, School of Medicine, Zagreb, Croatia.
FAU - Lusic, Mario
AU  - Lusic M
AD  - Department of Radiology, University Hospital Center Zagreb, Zagreb, Croatia.
FAU - Zekusic, Marija
AU  - Zekusic M
AD  - Department of Laboratory Diagnostics, University Hospital Center Zagreb, Zagreb, 
      Croatia.
FAU - Ninkovic, Dorotea
AU  - Ninkovic D
AUID- ORCID: 0000-0002-4239-519X
AD  - Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia.
AD  - University of Zagreb, School of Medicine, Zagreb, Croatia.
FAU - Gardijan, Danilo
AU  - Gardijan D
AD  - Department of Radiology, University Hospital Center Zagreb, Zagreb, Croatia.
FAU - Potocki, Kristina
AU  - Potocki K
AD  - University of Zagreb, School of Medicine, Zagreb, Croatia.
AD  - Department of Radiology, University Hospital Center Zagreb, Zagreb, Croatia.
FAU - Omerza, Lana
AU  - Omerza L
AD  - Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia.
FAU - Beljan, Lucija
AU  - Beljan L
AD  - Department of Pathology and Cytology, University Hospital Center Zagreb, Zagreb, 
      Croatia.
FAU - Zarkovic, Kamelija
AU  - Zarkovic K
AD  - University of Zagreb, School of Medicine, Zagreb, Croatia.
AD  - Department of Pathology and Cytology, University Hospital Center Zagreb, Zagreb, 
      Croatia.
FAU - Kerkhof, Jennifer
AU  - Kerkhof J
AD  - Department of Pathology and Laboratory Medicine, Western University, London 
      Health Sciences Centre and St. Joseph's Health Care London, London Ontario, 
      Canada.
FAU - Ljubojevic, Marija
AU  - Ljubojevic M
AD  - Institute for Medical Research and Occupational Health, Zagreb, Croatia.
FAU - de Sain-van der Velden, Monique
AU  - de Sain-van der Velden M
AD  - Department of Genetics, University Medical Centre Utrecht, Utrecht, 
      TheNetherlands.
FAU - Vukovic, Jurica
AU  - Vukovic J
AD  - Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia.
AD  - University of Zagreb, School of Medicine, Zagreb, Croatia.
FAU - Fumic, Ksenija
AU  - Fumic K
AD  - Department of Laboratory Diagnostics, University Hospital Center Zagreb, Zagreb, 
      Croatia.
FAU - Sadikovic, Bekim
AU  - Sadikovic B
AD  - Department of Pathology and Laboratory Medicine, Western University, London 
      Health Sciences Centre and St. Joseph's Health Care London, London Ontario, 
      Canada.
FAU - Baric, Ivo
AU  - Baric I
AD  - Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia.
AD  - University of Zagreb, School of Medicine, Zagreb, Croatia.
LA  - eng
PT  - Case Reports
PL  - Germany
TA  - J Pediatr Endocrinol Metab
JT  - Journal of pediatric endocrinology & metabolism : JPEM
JID - 9508900
RN  - 0 (Organic Anion Transporters)
RN  - 0 (Symporters)
RN  - 0 (sialic acid transport proteins)
RN  - Free sialic acid storage disease
SB  - IM
MH  - Agammaglobulinemia/blood/*complications/diagnostic imaging/genetics
MH  - Brain/diagnostic imaging
MH  - Humans
MH  - Infant
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - *Mutation
MH  - Organic Anion Transporters/*genetics
MH  - Sialic Acid Storage Disease/blood/*complications/diagnostic imaging/genetics
MH  - Symporters/*genetics
MH  - Ultrasonography
OTO - NOTNLM
OT  - fetal MRI
OT  - fetal ascites
OT  - free sialic acid storage disease
EDAT- 2018/09/23 06:00
MHDA- 2019/01/22 06:00
CRDT- 2018/09/23 06:00
PHST- 2017/10/03 00:00 [received]
PHST- 2018/07/16 00:00 [accepted]
PHST- 2018/09/23 06:00 [pubmed]
PHST- 2019/01/22 06:00 [medline]
PHST- 2018/09/23 06:00 [entrez]
AID - /j/jpem.ahead-of-print/jpem-2017-0397/jpem-2017-0397.xml [pii]
AID - 10.1515/jpem-2017-0397 [doi]
PST - ppublish
SO  - J Pediatr Endocrinol Metab. 2018 Oct 25;31(10):1155-1159. doi: 
      10.1515/jpem-2017-0397.