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Tough CNS Q - usmle8484
#1
A 10 y/o boy was admitted for weakness of all four limbs. Initially, he had frequent falls and an unsteady gait due to weakness of the distal muscles of his lower limbs. Within two weeks, there was rapid progression of the weakness to involve his proximal and trunk muscles so that he could neither move his limbs nor get up from his bed. He was anorexic, lethargic and not conversing. The bladder and bowel functions were normal. There was no history of preceding trauma, fever or seizures. The child appears developmentally normal and well nourished. Upon asking about the diet, the mother bursts out crying saying she is doing her best and even feeding him raw eggs every alternate day for the past one year for "extra nutrition".
On examination, the child appeared dull and had mask like facies. He had emotional lability and responded only to painful stimuli. The cranial nerves and optic fundii were normal. He had generalized hypotonia for the first two days followed by rigidity. Deep tendon reflexes were exaggerated. Ankle clonus and Babinski’s sign were noted bilaterally. His sensory system was normal. Examination of the other systems including the skin was normal.

Hb 11.8 g/dL,
TLC 13,300 × 103/µL,
Differntials:
Neutrophils 55%
Lymphocytes 42%
Monocytes 1%
Eosinophil 2%

This is his MRI
http://imgur.com/cq4dzP5

Diagnosis?
Managment?

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#2
diagnosis- toxoplasmosis?????
Bcz MRI shows intraventriuclar calcification and H/O of raw egg feeding

Treatment - pyrimethamine and sulphadiazine and folinic acid
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#3
Biotin responsive basal ganglia disease (BBGD)

BBGD characterized by subacute encephalopathy, dysarthria and dysphagia with occasional supranuclear facial nerve palsy or external ophthalmoplegia, and progressing to severe cogwheel rigidity, dystonia and quadriparesis. Brain MRI of these patients revealed specific bilateral necrosis in the head of the caudate nucleus and in the putamen. In view of the similar clinico-radiological picture and therapeutic response to biotin as noted in our case, BBGD was the most probable diagnosis in the 10 year old boy presented here. However, a known predisposing factor (raw egg consumption for one year) cannot be disregarded as coincidental.

Dietary biotin deficiency produces many symptoms not seen in patients with BBGD, such as dry skin, seborrheic dermatitis, fungal infections and erythematous periorifacial macular rashes(2). Absence of these symptoms in patients with BBGD suggests that sufficient biotin is available in all regions except the brain. The caudate neurodegeneration evident in patients with BBGD suggests that striatal neurons may be particularly susceptible to a lack of adequate biotin


For more info
visit:

http://www.indianpediatrics.net/mar2007/mar-228-230.htm


Thank you!!
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#4
I see..good
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#5
@ usmle8484 thank you for the detailed explanation....I hope we will not have these kind of questions!!!!!
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#6
hope sos too Smile
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#7
Interesting.

What is the mechanism of Biotin deficiency in raw egg consumption.

How does boiling the egg produce biotin?
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#8
Was that a question from Indian medical Licensing exam?
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#9
Bacterial endocarditis (Endocarditis) - High Yeild Topics For USMLE, 10 Points You Should Know
is a localized infection of the endocardium
characterized by vegetations involving the valve leaflets or walls.
It can also be classified as acute (ABE) or subacute (SBE).
Infection of healthy valves by high-virulence organisms
Produces metastatic foci
Usually fatal if not treated within 6 weeks
Most common organism is S. aureus (MCQ)
Seeding of previously damaged valves (rheumatic heart disease, con-
genital valve defects: mitral valve prolapse)
caused by low-virulence organisms
Does not produce metastatic foci
Most common organism is Streptococcus viridans (MCQ)
Mitral valve is most often affected(MCQ)
Read more at news4medico dot com/endocarditis/
1132 High Yeild Topics for USMLE
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