Abstract
We report a case of lysosomal storage disease diagnosed by lysosomal enzyme assay in a two year old boy with a history of gradual onset of weakness of body, poor vision, flaccid neck and spasticity in all four limbs with hyper-reflexia. On fundus examination cherry red spots were noted at macula. On performing lysosomal enzyme assay, beta-galactosidase level was considerably low. This indicates that the child is affected by lysosomal storage disease most likely GM1 gangliosidosis. The diagnosis is important because the disease is rare and it may be missed as the symptoms are similar to other neurological conditions and the diagnosis can help with future conception.
Highlights
Lysosomal storage disease is a group of diseases which results due to genetic defect in a lysosomal system protein leading to accumulation of partially degraded molecules within lysosomes.[1,2] Over 40 lysosomal storage diseases are known and they have a collective incidence of approximately 1 in 7000-8000 live births.[1]
GM1 gangliosidosis is an autosomal lysosomal storage disorder due to deficiency of the beta-galactosidase enzyme. This deficiency results in accumulation of GM1 gangliosides and related glycoconjugates in the lysosomes leading to lysosomal swelling, cellular damage, and organ dysfunction.[3,4]
It is a very rare disease, unusually high incidence has been found in Southern Brazil and an incidence of 1 case per 3700 live births has been reported in the population of Malta.[5,6]
Summary
Lysosomal storage disease is a group of diseases which results due to genetic defect in a lysosomal system protein leading to accumulation of partially degraded molecules within lysosomes.[1,2] Over 40 lysosomal storage diseases are known and they have a collective incidence of approximately 1 in 7000-8000 live births.[1]. The child’s clinical features suggested a neurological disorder His blood sample showed beta-galactosidase level 0.2 nmol/min/mg of protein. Analysis of the child’s leucocyte lysosomal enzyme activities revealed a low beta- galactosidase activity. This indicates that the child most likely had GM1 gangliosidosis. Similar findings were noticed in his sister’s blood examination Her beta-galactosidase activity was 0.1 nmol/min/mg of protein. His sister who is twelve months old showed similar clinical features
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