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Old 08-23-2012
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Question pt. with inherited disorder...?

q) a 3yr old boy is brought to the paediatrician for worsening proptosis and decreased visual acuity and pain in his right eye..past medical history is notable for glaucoma shortly after birth and the eye has been refractory to all standard medical therapies.....on p/e----cafe au lait spots,freckling in axillary and inguinal regions and iris hamartomas......what additional findings could be seen in this patient?

a) bilateral renal cell carcinomas
b) bilateral acoustic neuromas
c) cystic medial necrosis of aorta
d) scoliosis
e) leptomeningeal angiomas
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Old 08-23-2012
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Default my answer

b) bilateral acoustic neuromas
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Old 08-23-2012
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Default b) bilateral acoustic neuromas

i think its NF-2
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Old 08-24-2012
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Post correct answer is D

the right answer is D) scoliosis

the case is about neurofibromatoses 1( vonrecklinghausen disease)
c/f------cafe au lait spots,lisch nodules(iris hamartoma),optic glioma or a distinctive bony lesion such as sphenoid dysplasia or scoliosis,axillary freckles.....it is inherited by autosomal dominant inheritance...the gene is located on chr.17q

as for the option b is concerned it is NF-2......where cafe aulait macules,axillary freckles are uncommon........the gene is located on chromosome 22


leptomeningeal angiomas----sturge weber
cystic medial necrosis of aorta-----marfan
b/l renal cell ca.--------von hippel lindau(chr. 3)
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Old 08-24-2012
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Default :)

Thanks for this question! I didn't know about scoliosis
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Old 08-24-2012
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Default NF 1

NF-1,scoliosis
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Old 08-24-2012
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Default

Quote:
Originally Posted by venky2600 View Post
the right answer is D) scoliosis

the case is about neurofibromatoses 1( vonrecklinghausen disease)
c/f------cafe au lait spots,lisch nodules(iris hamartoma),optic glioma or a distinctive bony lesion such as sphenoid dysplasia or scoliosis,axillary freckles.....it is inherited by autosomal dominant inheritance...the gene is located on chr.17q

as for the option b is concerned it is NF-2......where cafe aulait macules,axillary freckles are uncommon........the gene is located on chromosome 22


leptomeningeal angiomas----sturge weber
cystic medial necrosis of aorta-----marfan
b/l renal cell ca.--------von hippel lindau(chr. 3)
Ya you are right. Actually in NF-2 80% patients get cataract (and when i saw question i don't know why i co related cataract with glucoma) and thought about NF-2.
Ya just read in Rapid review that

NF-1: optic gliomas, lisch nodules, freckling
NF-2: Bilateral acoustic neuroma, juvenile cataract, meningiomas
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