Gaucher's disease history and symptoms: Difference between revisions
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(Created page with "__NOTOC__ {{Gaucher's disease}} {{CMG}}; '''Associate Editor-In-Chief:''' {{CZ}} ==Overview== ==History and symptoms== * Painless hepatomegaly and splenomegaly; the...") |
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** Type II: serious convulsions, hypertonia, mental retardation, apnea. | ** Type II: serious convulsions, hypertonia, mental retardation, apnea. | ||
** Type III: myoclonus, convulsions, dementia, ocular muscle apraxia. | ** Type III: myoclonus, convulsions, dementia, ocular muscle apraxia. | ||
* [[Osteoporosis]]: 75% develop visible bony abnormalities due to the accumulated glucosylceramide. | * [[Osteoporosis]]: 75% develop visible bony abnormalities due to the accumulated glucosylceramide. | ||
* | |||
* | * Bone pain and fractures | ||
* Cognitive impairment | |||
* Easy bruising | |||
* Fatigue | |||
* Heart valve problems | |||
* Lung disease | |||
* Seizures | |||
* Severe swelling (edema) at birth | |||
* Skin changes | |||
==References== | ==References== |
Revision as of 20:25, 21 August 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]
Overview
History and symptoms
- Painless hepatomegaly and splenomegaly; the spleen can be 1500-3000 ml, as opposed to the normal size of 50-200 ml.
- Hypersplenism: increased destruction of red and white blood cells and platelets, leading to anemia, neutropenia and thrombocytopenia (with an increased risk of infection and bleeding)
- Cirrhosis of the liver is rare
- Neurological symptoms occur only in some types of Gaucher's (see below):
- Type II: serious convulsions, hypertonia, mental retardation, apnea.
- Type III: myoclonus, convulsions, dementia, ocular muscle apraxia.
- Osteoporosis: 75% develop visible bony abnormalities due to the accumulated glucosylceramide.
- Bone pain and fractures
- Cognitive impairment
- Easy bruising
- Fatigue
- Heart valve problems
- Lung disease
- Seizures
- Severe swelling (edema) at birth
- Skin changes