Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene

Tamara Žigman; Danijela Petković Ramadž A; Mario Lušić; Marija Zekušić; Dorotea Ninković; Danilo Gardijan; Kristina Potočki; Lana Omerza; Lucija Beljan; Kamelija Žarković; Jennifer Kerkhof; Marija Ljubojević; Monique De Sain-Van Der Velden; Jurica Vuković; Ksenija Fumić; Bekim Sadiković; Ivo Barić

doi:10.1515/jpem-2017-0397

Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene

Tamara Žigman^*, Danijela Petković Ramadž A, Mario Lušić, Marija Zekušić, Dorotea Ninković, Danilo Gardijan, Kristina Potočki, Lana Omerza, Lucija Beljan, Kamelija Žarković, Jennifer Kerkhof, Marija Ljubojević, Monique De Sain-Van Der Velden, Jurica Vuković, Ksenija Fumić, Bekim Sadiković, Ivo Barić

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

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.

Original language	English
Pages (from-to)	1155-1159
Number of pages	5
Journal	Journal of Pediatric Endocrinology and Metabolism
Volume	31
Issue number	10
DOIs	https://doi.org/10.1515/jpem-2017-0397
Publication status	Published - Oct 2018

Keywords

fetal ascites
fetal MRI
free sialic acid storage disease
Humans
Infant
Male
Sialic Acid Storage Disease/blood
Symporters/genetics
Brain/diagnostic imaging
Magnetic Resonance Imaging
Organic Anion Transporters/genetics
Ultrasonography
Agammaglobulinemia/blood
Mutation

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Žigman, T., Petković Ramadž A, D., Lušić, M., Zekušić, M., Ninković, D., Gardijan, D., Potočki, K., Omerza, L., Beljan, L., Žarković, K., Kerkhof, J., Ljubojević, M., De Sain-Van Der Velden, M., Vuković, J., Fumić, K., Sadiković, B., & Barić, I. (2018). Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene. Journal of Pediatric Endocrinology and Metabolism, 31(10), 1155-1159. https://doi.org/10.1515/jpem-2017-0397

@article{7e5fad6b41bb498ea223e1e4e140c729,

title = "Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene",

abstract = "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.",

keywords = "fetal ascites, fetal MRI, free sialic acid storage disease, Humans, Infant, Male, Sialic Acid Storage Disease/blood, Symporters/genetics, Brain/diagnostic imaging, Magnetic Resonance Imaging, Organic Anion Transporters/genetics, Ultrasonography, Agammaglobulinemia/blood, Mutation",

author = "Tamara {\v Z}igman and {Petkovi{\'c} Ramad{\v z} A}, Danijela and Mario Lu{\v s}i{\'c} and Marija Zeku{\v s}i{\'c} and Dorotea Ninkovi{\'c} and Danilo Gardijan and Kristina Poto{\v c}ki and Lana Omerza and Lucija Beljan and Kamelija {\v Z}arkovi{\'c} and Jennifer Kerkhof and Marija Ljubojevi{\'c} and {De Sain-Van Der Velden}, Monique and Jurica Vukovi{\'c} and Ksenija Fumi{\'c} and Bekim Sadikovi{\'c} and Ivo Bari{\'c}",

year = "2018",

month = oct,

doi = "10.1515/jpem-2017-0397",

language = "English",

volume = "31",

pages = "1155--1159",

journal = "Journal of Pediatric Endocrinology and Metabolism",

issn = "0334-018X",

publisher = "Walter de Gruyter GmbH",

number = "10",

}

Žigman, T, Petković Ramadž A, D, Lušić, M, Zekušić, M, Ninković, D, Gardijan, D, Potočki, K, Omerza, L, Beljan, L, Žarković, K, Kerkhof, J, Ljubojević, M, De Sain-Van Der Velden, M, Vuković, J, Fumić, K, Sadiković, B & Barić, I 2018, 'Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene', Journal of Pediatric Endocrinology and Metabolism, vol. 31, no. 10, pp. 1155-1159. https://doi.org/10.1515/jpem-2017-0397

Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene. / Žigman, Tamara; Petković Ramadž A, Danijela; Lušić, Mario et al.
In: Journal of Pediatric Endocrinology and Metabolism, Vol. 31, No. 10, 10.2018, p. 1155-1159.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene

AU - Žigman, Tamara

AU - Petković Ramadž A, Danijela

AU - Lušić, Mario

AU - Zekušić, Marija

AU - Ninković, Dorotea

AU - Gardijan, Danilo

AU - Potočki, Kristina

AU - Omerza, Lana

AU - Beljan, Lucija

AU - Žarković, Kamelija

AU - Kerkhof, Jennifer

AU - Ljubojević, Marija

AU - De Sain-Van Der Velden, Monique

AU - Vuković, Jurica

AU - Fumić, Ksenija

AU - Sadiković, Bekim

AU - Barić, Ivo

PY - 2018/10

Y1 - 2018/10

N2 - 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.

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.

KW - fetal ascites

KW - fetal MRI

KW - free sialic acid storage disease

KW - Humans

KW - Infant

KW - Male

KW - Sialic Acid Storage Disease/blood

KW - Symporters/genetics

KW - Brain/diagnostic imaging

KW - Magnetic Resonance Imaging

KW - Organic Anion Transporters/genetics

KW - Ultrasonography

KW - Agammaglobulinemia/blood

KW - Mutation

UR - http://www.scopus.com/inward/record.url?scp=85054408574&partnerID=8YFLogxK

U2 - 10.1515/jpem-2017-0397

DO - 10.1515/jpem-2017-0397

M3 - Article

C2 - 30243016

AN - SCOPUS:85054408574

SN - 0334-018X

VL - 31

SP - 1155

EP - 1159

JO - Journal of Pediatric Endocrinology and Metabolism

JF - Journal of Pediatric Endocrinology and Metabolism

IS - 10

ER -

Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene

Abstract

Keywords

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