PMID- 7992007
OWN - NLM
STAT- MEDLINE
DCOM- 19950110
LR  - 20131121
IS  - 0036-5327 (Print)
IS  - 0036-5327 (Linking)
VI  - 94
IP  - 2
DP  - 1993
TI  - Infantile sialic acid storage disease (ISSD). Report on first case in Czech 
      Republic with biopsy and autopsy findings.
PG  - 145-53
AB  - The first case of infantile sialic acid storage disease in Czech Republic is 
      presented in a four-and-half year-old girl. The clinical phenotype consisted of 
      moderate hepatosplenomegaly and skin hypopigmentation, early psychomotoric and 
      developmental arrest, associated with truncal ataxia and lower extremities 
      spasticity, extinguished acoustic and visual perception (optic atrophy without 
      macular alteration) and remarkable automutilation phenomena. The appearance was 
      normosomatic and there were minimal dysostotic changes. Skin and liver biopsy 
      displayed moderate amount of lucent storage lysosomes in epithelial, mesenchymal, 
      and neural elements. Alder-Reily granules were found in the bone marrow and 
      peripheral blood cells. The urinary excretion of mucopolysaccharides and 
      oligosaccharides was not increased. The autopsy showed heterogenous neuronal and 
      glial brain storage (lucent lysosomes, lipopigment, membranous cytoplasmic 
      bodies), severe hypomyelination and severe storage in the splenic sinus 
      endothelium. Diagnosis was made by proving thirteen fold increase of free sialic 
      acid in the fibroblast culture. It is pointed out that in the case of a 
      mucopolysaccharidosis-like storage disease unexplainable by a hydrolytic enzyme 
      deficiency, it is the enzyme product storage which must be suspected. At present, 
      the only candidate is the sialic acid storage disease.
FAU - Elleder, M
AU  - Elleder M
AD  - 1st Department of Pathology, 1st Medical Faculty, Charles University, Prague.
FAU - Kraus, J
AU  - Kraus J
FAU - Kodet, R
AU  - Kodet R
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Czech Republic
TA  - Sb Lek
JT  - Sbornik lekarsky
JID - 0025770
RN  - 0 (Sialic Acids)
RN  - GZP2782OP0 (N-Acetylneuraminic Acid)
SB  - IM
MH  - Child, Preschool
MH  - Female
MH  - Humans
MH  - Lysosomal Storage Diseases/metabolism/*pathology
MH  - N-Acetylneuraminic Acid
MH  - Sialic Acids/*metabolism
EDAT- 1993/01/01 00:00
MHDA- 1993/01/01 00:01
CRDT- 1993/01/01 00:00
PHST- 1993/01/01 00:00 [pubmed]
PHST- 1993/01/01 00:01 [medline]
PHST- 1993/01/01 00:00 [entrez]
PST - ppublish
SO  - Sb Lek. 1993;94(2):145-53.