Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs

2003 ◽  
Vol 120A (1) ◽  
pp. 23-27 ◽  
Author(s):  
Rick A. Martin ◽  
Rachel Slaugh ◽  
Marvin Natowicz ◽  
Kayla Pearlman ◽  
Eduard Orvisky ◽  
...  
Keyword(s):  
Sialic Acid ◽  
Storage Disease ◽  
Monozygous Twin ◽  
Sialic Acid Storage Disease

Free Sialic Acid Storage Disease Mimicking Cerebral Palsy and Revealed by Blood Smear Examination

2011 ◽  
Vol 158 (1) ◽  
pp. 165-165.e1 ◽  
Author(s):  
François-Guillaume Debray ◽  
Caroline Lefebvre ◽  
Stéphanie Colinet ◽  
Karin Segers ◽  
René Stevens
Keyword(s):  
Cerebral Palsy ◽  
Sialic Acid ◽  
Blood Smear ◽  
Storage Disease ◽  
Smear Examination ◽  
Blood Smear Examination ◽  
Sialic Acid Storage Disease ◽  
Free Sialic Acid

Fetal ascites and oligohydramnios: Prenatal diagnosis of a sialic acid storage disease (index case)

1995 ◽  
Vol 15 (9) ◽  
pp. 864-867 ◽  
Author(s):  
P. Poulain ◽  
S. Odent ◽  
I. Maire ◽  
J. Milon ◽  
J. F. Proudhon ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Sialic Acid ◽  
Storage Disease ◽  
Index Case ◽  
Disease Index ◽  
Sialic Acid Storage Disease

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

2018 ◽  
Vol 31 (10) ◽  
pp. 1155-1159
Author(s):  
Tamara Žigman ◽  
Danijela Petković Ramadža ◽  
Mario Lušić ◽  
Marija Zekušić ◽  
Dorotea Ninković ◽  
...  
Keyword(s):  
Sialic Acid ◽  
Storage Disease ◽  
Novel Mutation ◽  
Lysosomal Storage Diseases ◽  
Imaging Features ◽  
Lysosomal Storage ◽  
Biochemical Tests ◽  
Radiographic Findings ◽  
Sialic Acid Storage Disease ◽  
Free Sialic Acid

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.

An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease

2002 ◽  
Vol 61 (6) ◽  
pp. 443-447 ◽  
Author(s):  
R Biancheri ◽  
E Verbeek ◽  
A Rossi ◽  
R Gaggero ◽  
L Roccatagliata ◽  
...  
Keyword(s):  
Sialic Acid ◽  
Storage Disease ◽  
Salla Disease ◽  
Disease Variant ◽  
Sialic Acid Storage Disease

Infantile sialic acid storage disease in two siblings

1988 ◽  
Vol 11 (S2) ◽  
pp. 259-262 ◽  
Author(s):  
A. Cooper ◽  
I. B. Sardharwalla ◽  
M. Thornley ◽  
K. P. Ward
Keyword(s):  
Sialic Acid ◽  
Storage Disease ◽  
Sialic Acid Storage Disease

Ultrasound assessment in a case of sialic acid storage disease

2001 ◽  
Vol 18 (3) ◽  
pp. 272-274 ◽  
Author(s):  
L. Carbillon ◽  
C. Largillière ◽  
M. Bucourt ◽  
B. Scheuer-Niro ◽  
J. M. Levaillant ◽  
...  
Keyword(s):  
Sialic Acid ◽  
Storage Disease ◽  
Ultrasound Assessment ◽  
Sialic Acid Storage Disease
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