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Old 07-09-2011
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Rheumatology/Orthopedics Pathological fractures and hearing defects

A 1 year old child with a history of pathological fractures presents with fatigue, weakness and dizziness complain. His mother says that he has hearing defect which they found out later. underlying cause of diagnosis may be due to:
1. Fibroblast growth factor receptor gene defect
2. Metabolic abnormality of bone
3. Osteoclasts deficiency
4. Type 1 collagen synthesis defect

Can u give the management along for completion sake...thanks.
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4. Type 1 collagen synthesis defect
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Old 07-09-2011
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I think he has osteogenesis imperfecta which is a defective connective tissue, or without the ability to make it, usually because of a deficiency of type I collagen. patients present with :
Loose joints
Poor muscle tone in arms and legs
Discolouration of the sclera often turning blue during severe -break.
Early loss of hearing possible
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Quote:
Originally Posted by confident View Post
A 1 year old child with a history of pathological fractures presents with fatigue, weakness and dizziness complain. His mother says that he has hearing defect which they found out later. underlying cause of diagnosis may be due to:
1. Fibroblast growth factor receptor gene defect
2. Metabolic abnormality of bone
3. Osteoclasts deficiency
4. Type 1 collagen synthesis defect

Can u give the management along for complition sake...thanks.
Answer is 3. Osteoclasts deficiency. Osteopetrosis is the diagnosis.
Pathological fracture, pain at hip joint followed after trauma or fall,anemia(fatigue, weakness,dizziness) due to replacement of bone marrow cavity,visual and hearing defect.

2. This option is seen in osteoporosis. It will have compression of vertebral bodies, colle's fracture, Dowager's hump is seen. Mainly seen in postmenopausal, senile, hypercortisolism etc..idiopathic form seen in children.

4. Type 1 Collagen synthesis defect is seen in osteogenesis imperfecta. Blue sclera, deafness, pathological fracture since birth, fracture after trauma, poor muscle tone, dental discolouration may be present.

Option 1 is seen in achondroplasia,Here head and vertebral bones are normal but arm and leg are short.

Pathologic fracture also seen in fibrous dysplasia.

Last edited by Ace3; 07-09-2011 at 06:17 PM.
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Treatment option for Osteogenic imperfecta(brittle bone): Bisphosphonate for mineralization

For osteopetrosis(marble bone): No treatment

For achondroplasia: No treatment

For osteoporosis: Depending on cause: mostly vit d, calcitonin, calcium, bisphosphonat.
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Old 07-26-2011
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Quote:
Originally Posted by khushboo View Post
4. Type 1 collagen synthesis defect
may i know your score?????///
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Old 07-26-2011
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Quote:
Originally Posted by confident View Post
Answer is 3. Osteoclasts deficiency. Osteopetrosis is the diagnosis.
Pathological fracture, pain at hip joint followed after trauma or fall,anemia(fatigue, weakness,dizziness) due to replacement of bone marrow cavity,visual and hearing defect.

2. This option is seen in osteoporosis. It will have compression of vertebral bodies, colle's fracture, Dowager's hump is seen. Mainly seen in postmenopausal, senile, hypercortisolism etc..idiopathic form seen in children.

4. Type 1 Collagen synthesis defect is seen in osteogenesis imperfecta. Blue sclera, deafness, pathological fracture since birth, fracture after trauma, poor muscle tone, dental discolouration may be present.

Option 1 is seen in achondroplasia,Here head and vertebral bones are normal but arm and leg are short.

Pathologic fracture also seen in fibrous dysplasia.
____
My first thought was Osteogenesis imperfecta, option 4. However, I read your question and became very curious about it so I review some material about it. Osteopetrosis has several subtypes, from them, two main types have been delineated, a severe form and a mild form, which have a very low incidence, about 1/250.500 and 1/20.000 respectively. This boy has 1 year old so we can think that he has developed the severe form of osteopetrosis (1/250.000).
On the other hand, OI is more common that Osteopetrosis, as a matter of fact we found its prevalence around 1/20.000 and in some populations is even higher.

In both disease you have deafness, it is a key component which help you to rule out (in the exam) other bone pathologies.

So in this question you may have two answers.
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Stop buzzling need more clear data

Quote:
Originally Posted by confident View Post
Answer is 3. Osteoclasts deficiency. Osteopetrosis is the diagnosis.
Pathological fracture, pain at hip joint followed after trauma or fall,anemia(fatigue, weakness,dizziness) due to replacement of bone marrow cavity,visual and hearing defect.

2. This option is seen in osteoporosis. It will have compression of vertebral bodies, colle's fracture, Dowager's hump is seen. Mainly seen in postmenopausal, senile, hypercortisolism etc..idiopathic form seen in children.

4. Type 1 Collagen synthesis defect is seen in osteogenesis imperfecta. Blue sclera, deafness, pathological fracture since birth, fracture after trauma, poor muscle tone, dental discolouration may be present.

Option 1 is seen in achondroplasia,Here head and vertebral bones are normal but arm and leg are short.

Pathologic fracture also seen in fibrous dysplasia.

i read the question ..! same as most ....i go with o.imperfecta
i go with Sadalssud in explanation
even fatigue in this age cannot go perfectly with anemia until u confirm by lab dx
it can be dt myopathy as well.....cannot it..?
visual examin was not clear so it can be a good clue..?
so with data in !Q ... and by reviewing incidence u can correctly 1st go with o.imperfecta .....
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Last edited by cerebrum85; 07-27-2011 at 12:57 AM.
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@ Sadalssud, @Cerebrum85......

OK here what i think...

Osteogenesis imperfecta are of two types osteogenesis congenita and tarda.

Where osteogenesis imperfecta congenita manifest at birth and TARDA at later age may be at teenage. In the given question pathological fractures are there by 1 year and may be before and lets consider they came by 1y to clinic so if its osteogenesis imperfecta congenita due to defect in collagen type 1 should have gross features since it effects most of the parts( like pathological fracture inmost parts, blue sclera, etc).

Osteogenesis imperfecta congenita even though very mild form presents with skeletal and mostly vertebral deformity like kyphoscoliosis etc...

I think osteopetrosis is due to dense bone due to lack of osteoclastic activity which is more prone to infection and anaemia due to (defective bone heamatopoisis).


So i think osteopetrosis is the answer .....may be question have two answers but i think we have to choose which is very close..

In real exam i hope they dont give too close Or they give specific clues. But we wont be remembering what they give at the end of the day since we will be doing so many q.

Last edited by Ace3; 07-27-2011 at 08:12 AM.
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Quote:
Originally Posted by Sadalssud View Post
____
My first thought was Osteogenesis imperfecta, option 4. However, I read your question and became very curious about it so I review some material about it. Osteopetrosis has several subtypes, from them, two main types have been delineated, a severe form and a mild form, which have a very low incidence, about 1/250.500 and 1/20.000 respectively. This boy has 1 year old so we can think that he has developed the severe form of osteopetrosis (1/250.000).
On the other hand, OI is more common that Osteopetrosis, as a matter of fact we found its prevalence around 1/20.000 and in some populations is even higher.

In both disease you have deafness, it is a key component which help you to rule out (in the exam) other bone pathologies.

So in this question you may have two answers.




Hi... are u giving a glance to incidence and prevelence of important disease while studying. And we have to consider that in mind if dd are too close. Since i have not read and i saw many of you posting prevelence and incidence of disease if dd are close or any comlication if its very rare present with disease. I am asking because i dont know and i will give a reading when i go through 2nd time.
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Old 07-27-2011
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3. Osteoclasts deficiency
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Quote:
Originally Posted by confident View Post
Hi... are u giving a glance to incidence and prevelence of important disease while studying. And we have to consider that in mind if dd are too close. Since i have not read and i saw many of you posting prevelence and incidence of disease if dd are close or any comlication if its very rare present with disease. I am asking because i dont know and i will give a reading when i go through 2nd time.
Well, as I said I reviewed some books because the question was very confusing, I didn't know the exact incidence and prevalence of osteopetrosis and osteogenesis imperfecta and I think we don't need to know this. However, I think is important to know what diseases are more common for instance: We know that prostatic cancer is the most common cancer in men, but the most lethal cancer is lung cancer. So if a question ask you about this, you know how to answer.
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Quote:
Originally Posted by Sadalssud View Post
Well, as I said I reviewed some books because the question was very confusing, I didn't know the exact incidence and prevalence of osteopetrosis and osteogenesis imperfecta and I think we don't need to know this. However, I think is important to know what diseases are more common for instance: We know that prostatic cancer is the most common cancer in men, but the most lethal cancer is lung cancer. So if a question ask you about this, you know how to answer.
thanks......... i will pay attention in my 2nd reading......
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Old 07-28-2011
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Quote:
Originally Posted by Sadalssud View Post
: We know that prostatic cancer is the most common cancer in men, but the most lethal cancer is lung cancer..

acording 2 my readings..&(ofcourse clinical experience. )... most common cancer in males is lung cancer.....??!!
r u sure about ur data

that is what fischer said in one tape:
m.c cancer in ...... males females
1st lung breast (lung ca is increase incidence)
2nd prostate ?i cannot remember now
3rd colon
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Old 07-28-2011
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Originally Posted by cerebrum85 View Post
acording 2 my readings..&(ofcourse clinical experience. )... most common cancer in males is lung cancer.....??!!
r u sure about ur data

that is what fischer said in one tape:
m.c cancer in ...... males females
1st lung breast (lung ca is increase incidence)
2nd prostate ?i cannot remember now
3rd colon
That is what I am talking about. One thing is incidence and other is mortality rate due to cancer.

Prostate cancer has the highest incidence in males, but lung cancer is the cancer that kill more men (and women), so it is important to be aware of those differences in the exam.
Probably the reason for seeing more lung cancer in hospitals is due to this patients are more likely to be in a hospital because this cancer is more lethal and leads to more complications.

Check this out: http://www.cancer.org/acs/groups/con...spc-029771.pdf
Page Number 10.
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Old 07-29-2011
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Quote:
Originally Posted by Sadalssud View Post
That is what I am talking about. One thing is incidence and other is mortality rate due to cancer.

Prostate cancer has the highest incidence in males, but lung cancer is the cancer that kill more men (and women), so it is important to be aware of those differences in the exam.
Probably the reason for seeing more lung cancer in hospitals is due to this patients are more likely to be in a hospital because this cancer is more lethal and leads to more complications.

Check this out: http://www.cancer.org/acs/groups/con...spc-029771.pdf
Page Number 10.
yeeeeh so great thx a lot
but regarding the exam..... if we face a Q about the problem.... ie M.C. ca in males answer ll be ......... ??
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yeeeeh so great thx a lot
but regarding the exam..... if we face a Q about the problem.... ie M.C. ca in males answer ll be ......... ??
Most common cancer in males: Prostate cancer

Most deaths due to cancer: Lung cancer.
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Old 07-30-2011
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Default Cleaaaar

Quote:
Originally Posted by Sadalssud View Post
Most common cancer in males: Prostate cancer

Most deaths due to cancer: Lung cancer.
Clear........thx
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