PMID- 10069709
OWN - NLM
STAT- MEDLINE
DCOM- 19990517
LR  - 20131121
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 82
IP  - 5
DP  - 1999 Feb 19
TI  - Clinical spectrum of infantile free sialic acid storage disease.
PG  - 385-91
AB  - Infantile free sialic acid storage disease (ISSD) is a rare autosomal recessive 
      metabolic disorder caused by a lysosomal membrane transport defect, resulting in 
      accumulation of free sialic acid within lysosomes. Only a few cases have been 
      described. We report on three new cases of ISSD with different modes of 
      presentation: an infant with nephrotic syndrome, a case of fetal and neonatal 
      ascites with heart failure, and a case of fetal ascites with esophageal atresia 
      type III. From these patients and a review of the literature (27 cases total) we 
      draw the following conclusions. 1) "Coarse facies," fair complexion, 
      hepatosplenomegaly, and severe psychomotor retardation are constant findings in 
      this disorder. 2) Nephrotic syndrome occurred in most cases (four in seven) in 
      which renal evaluation was performed. Therefore, ISSD is an important cause of 
      nephrosis in infants with a storage disorder phenotype. 3) Fetal/neonatal ascites 
      or hydrops was the mode of presentation in 13 (60%) of 21 cases. Thus, ISSD 
      enters in the differential diagnosis of hydrops fetalis with a storage disease 
      phenotype. 4) Cardiomegaly was evident in nine cases. 5) Corneae were always 
      clear, and albinoid fundi were reported in five cases. 6) Dysostosis multiplex 
      was not prominent. 7) Bone marrow aspiration could be negative. 8) Death ensued 
      in early infancy with a mean age of 13.1 months. All reported deaths were caused 
      by respiratory infections.
FAU - Lemyre, E
AU  - Lemyre E
AD  - Medical Genetics Service, Department of Pediatrics, Hopital Sainte-Justine, 
      Universite de Montreal, Quebec, Canada.
FAU - Russo, P
AU  - Russo P
FAU - Melancon, S B
AU  - Melancon SB
FAU - Gagne, R
AU  - Gagne R
FAU - Potier, M
AU  - Potier M
FAU - Lambert, M
AU  - Lambert M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - GZP2782OP0 (N-Acetylneuraminic Acid)
SB  - IM
MH  - Ascites/congenital/diagnosis
MH  - Esophageal Atresia/diagnosis
MH  - Female
MH  - Fetal Diseases/*diagnosis
MH  - Heart Failure/congenital/diagnosis
MH  - Humans
MH  - Hydrops Fetalis/diagnosis
MH  - Infant
MH  - Infant, Newborn
MH  - Lysosomal Storage Diseases/*diagnosis/genetics/pathology
MH  - Male
MH  - N-Acetylneuraminic Acid/*metabolism/urine
MH  - Nephrotic Syndrome/diagnosis
RF  - 31
EDAT- 1999/03/09 03:01
MHDA- 2000/06/20 09:00
CRDT- 1999/03/09 03:01
PHST- 1999/03/09 03:01 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1999/03/09 03:01 [entrez]
AID - 10.1002/(SICI)1096-8628(19990219)82:5<385::AID-AJMG6>3.0.CO;2-3 [pii]
PST - ppublish
SO  - Am J Med Genet. 1999 Feb 19;82(5):385-91.