central laboratory
Contributions
Type: Publication Only
Background
Lysosomal storage diseases are rare constitutional diseases due to deficiency of a lysosomal protein that causes the blockage of a catabolic pathway of macromolecules. These conditions result in the accumulation of non-degraded metabolites in various tissues including the hematopoietic tissue.
Their classification is based on the nature of the accumulated substance (mucopolysccharides, sphingolipids, neutral lipids, oligosaccharides ...) and the protein in question anomaly.
There are: the Gangliosidoses, Gaucher disease and Niemann-Pick disease.
Niemann Pick's disease is associated with abnormal transport of cellular lipids inducing an accumulation of cholesterol and glycosphingolipids in the brain (type A +++) and other tissues.
There are 3 types according to the presence (type A) or absence (type B), progressive presence (type C) neurological manifestations.
Aims
We report the case of a 50 days old infant hospitalized at the pediatric department for exploration of a fever in the long term with hepatosplenomegaly.
Methods
The blood count shows a bicytopenia: aplastic anemia hypochromic microcytic to 6 g / dL with moderate thrombocytopenia 118 G / L.
The examination of the blood smear then highlights a population of abnormal lymphocytes containing large and multiple vacuoles.
The anomaly appears vacuolated lymphocytes with enough evidence to we can assert its pathological nature and distinguish visible microvacuoles sometimes in normal lymphocytes.
Results
These clinical characteristics (hepato splenomegaly) and biological (presence of vacuolated lymphocytes) are evoke a lysosomal storage disease.
Bone marrow smer confirms the pathological origin of these vacuoles and shows the presence of foam cells and bulky loads that oriented towards the diagnosis of the Niemann Pick's disease.
Summary
The storage diseases include the often poorly understood diseases. In this context, the detection of inconstant cytologic anomalies in blood and bone marrow smears, permitting a rapid screening, is an important step in the diagnostic approach.
Session topic: Publication Only
Type: Publication Only
Background
Lysosomal storage diseases are rare constitutional diseases due to deficiency of a lysosomal protein that causes the blockage of a catabolic pathway of macromolecules. These conditions result in the accumulation of non-degraded metabolites in various tissues including the hematopoietic tissue.
Their classification is based on the nature of the accumulated substance (mucopolysccharides, sphingolipids, neutral lipids, oligosaccharides ...) and the protein in question anomaly.
There are: the Gangliosidoses, Gaucher disease and Niemann-Pick disease.
Niemann Pick's disease is associated with abnormal transport of cellular lipids inducing an accumulation of cholesterol and glycosphingolipids in the brain (type A +++) and other tissues.
There are 3 types according to the presence (type A) or absence (type B), progressive presence (type C) neurological manifestations.
Aims
We report the case of a 50 days old infant hospitalized at the pediatric department for exploration of a fever in the long term with hepatosplenomegaly.
Methods
The blood count shows a bicytopenia: aplastic anemia hypochromic microcytic to 6 g / dL with moderate thrombocytopenia 118 G / L.
The examination of the blood smear then highlights a population of abnormal lymphocytes containing large and multiple vacuoles.
The anomaly appears vacuolated lymphocytes with enough evidence to we can assert its pathological nature and distinguish visible microvacuoles sometimes in normal lymphocytes.
Results
These clinical characteristics (hepato splenomegaly) and biological (presence of vacuolated lymphocytes) are evoke a lysosomal storage disease.
Bone marrow smer confirms the pathological origin of these vacuoles and shows the presence of foam cells and bulky loads that oriented towards the diagnosis of the Niemann Pick's disease.
Summary
The storage diseases include the often poorly understood diseases. In this context, the detection of inconstant cytologic anomalies in blood and bone marrow smears, permitting a rapid screening, is an important step in the diagnostic approach.
Session topic: Publication Only