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Page 1: gaucher disease Presentation1
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Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase.

In people with this condition, the body is unable to break down a certain type of fat (lipid) called glucocerebroside. 

When the enzyme is defective, the Fatty material can collect in the spleen, liver, kidneys, lungs, brain and bone marrow.


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Gauchers disease is an autosomal recessive disorder or an inherited disorder. Both parents must be carriers of the disease in order for there to be a risk of them having an affected child. 

The gene which instructs the body to make the enzyme glucocerebrosidase is also passed on from both parents to children. In Gauchers disease, this gene is defective.

Gaucher disease affects an estimated 1 in 50,000 to 1 in 100,000 people in the general population. Persons of Eastern and Central European, Jewish heritage are at highest risk for the disease.


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Type 2 Gaucher disease is characterised by onset in infancy and severe involvement of the central nervous system (the brain and spinal cord).

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Symptoms include an enlarged liver and spleen, extensive and progressive brain damage, eye movement disorders, seizures, limb rigidity, and a poor ability to suck and swallow.

Affected children usually die by age 2.


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Gaucher Disease Type 2Hannah. She is 7-1/2 months old, and she is recently diagnosed with type 2 Gaucher's Disease .

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“I don't want to see my baby daughter die”. 

“My Wish is to find outlets to help me share her story, create awareness for this disease, and hopefully, in turn, raise the funds needed to fight this disease. When you are faced with a very rare disease, there is very limiting funding and researchers out there -- almost as if our children are invisible to the world. I want the world to know about Hannah and the other kids with type 2 Gaucher's Disease . We need their help to fight with us.” 

Views of Hanna’s mother:

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A blood test is performed to confirm a diagnosis of Gaucher Disease Type II.

This blood test measures the amount of the enzyme glucocerebrosidase and compares it to normal enzyme activity levels.

If the disorder is present, low levels of enzyme will be present as well.


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Treatment for Gaucher Disease Type II includes pain management.

Various therapies can reduce the pain associated with this disorder.

Blood transfusions can help treat the anemia that may occur in some affected individuals.

Psychological counseling is encouraged to help families manage some of the emotional toll this disorder imparts.

Enzyme replacement therapy does not prevent the nervous system damage that occurs in Gaucher Disease Type II.


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Not supplied.


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The article which I critiqued, it’s known as “Type 2 Gaucher disease: 15 new cases and

review of the literature” It is a study performed by Cyril Mignot,

Diana Doummar, Thierry Villemur and The French Type 2 Gaucher Disease Study Group.

Type 2 Gaucher disease: 15 new cases and review of the literature

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The goal was to study Type 2 Gaucher Disease in depth.

Compare new results with the old literature To find more signs and symptoms caused by

Type 2 Gaucher Disease.


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Talked about three subtypes of Gaucher Disease.

Type 1: causes enlargement of spleen and liver, anemia, and skeletal involvement

Type 2: causes rapid neurological degeneration,  seizures, limb rigidity, and a poor ability to suck and swallow.

Type 3:causes diverse neurological problems, eye movement disorders, blood disorders and respiratory problems.

The main focus was on Type 2 Gaucher Disease.


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They studied the clinical history of 15 original acute Gaucher Disease patients.

reviewed the available data of 104 published cases of early onset neuronopathic Gaucher disease.


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Age of onset Age at which neurological and non-

neurological signs appeared Age at cause of death Complementary data depending on the

exams that were performed in each case

Areas of interest:

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Type 2 Gaucher disease is homogeneous.

◦Homogeneous: same or similar nature.


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The most frequent initial signs are hyperextension of the neck, swallowing impairment, and strabismus.

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Strabismus: is a disorder in which the eyes do not line up in the same direction when focusing

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Signs of prolonged spontaneous apneas occur secondly.

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Apneas: suspension of external breathing

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Myoclonic epilepsy and Psychomotor regression may occur.

Thrombocytopenia and Anemia occur next.

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Thrombocytopenia: is a disorder in which there are not enough platelets. Platelets are cells in the blood that help blood to clot.

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Anemia: is a condition in which the body does not have enough healthyred blood cells.

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Type I: patients may live well into adulthood. The median age at diagnosis is 28 years of age, and life expectancy is mildly decreased. There are no neurological symptoms.

Type II:  Typically begins within 6 months of birth  characterized by neurological problems in small children. most die before reaching the third birthday.

Type III: This group develops the disease somewhat later, can begin at any time in childhood or even in adulthood, but most die before their 30th birthday.  It is characterized by slowly progressive but milder neurologic symptoms compared to the acute or type 2 version.

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Type 2 Gaucher Disease is a clinically homogeneous entity.

The specificity of the neurological involvement is sufficient to suspect the diagnosis at the onset of the disease.