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Gaucher disease type 2
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Gaucher disease type 2

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Contributors: Jamie Adams MD
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Synopsis

Gaucher disease is an autosomal recessive lysosomal storage disease that results from a deficiency of glucocerebrosidase, which leads to an accumulation of glucocerebroside. Type 2 of the disease begins within the first 6 months of life and is rapidly progressive. Symptoms include hepatosplenomegaly, spasticity, seizures, progressive brain damage and cognitive dysfunction, apnea, eye movement abnormalities, opisthotonic posture, and failure to thrive with poor suck and difficulty swallowing. Prognosis is poor and most children die before age 3.

For more information, see OMIM.

Related topic: Gaucher Disease Type 1

Codes

ICD10CM:
E75.22 – Gaucher disease

SNOMEDCT:
12246008 – Acute neuronopathic Gaucher's disease

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Last Updated: 03/29/2017
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Gaucher disease type 2
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Gaucher disease type 2 : Hepatomegaly, Rigidity, Strabismus, Splenomegaly, Developmental delay, PLT decreased
Copyright © 2019 VisualDx®. All rights reserved.