Type 2 Gaucher disease is a rare genetic disorder caused by a defective gene that inhibits the body's ability to break down a fatty lipid called glucocerebroside. This causes the fatty material to accumulate in organs like the spleen, liver, lungs and bone marrow. Type 2 Gaucher disease specifically affects the central nervous system, with initial signs including neck hyperextension, swallowing issues and eye movement disorders. Affected children usually experience rapid neurological degeneration and die by age 2. The article reviews 15 new cases of Type 2 Gaucher disease and compares them to 104 published cases to better understand the signs, symptoms and progression of this rare condition.

2.  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.

3.  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.

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

5.  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.

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

7.  “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.”

8.  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.

9.  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.

10. Not supplied.

11.  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.

12.  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.

13.  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.

14.  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.

15.  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

16.  Type 2 Gaucher disease is
homogeneous.
◦ Homogeneous: same or
similar nature.

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

19.  Signs of prolonged spontaneous
apneas occur secondly.

21.  Myoclonic epilepsy and
Psychomotor regression may
occur.
 Thrombocytopenia and Anemia
occur next.

24.  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.

25.  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.