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Old 08-02-2011
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Default genetic links

a new born presents with seizures hypotonia inability to eat his blood screening shows high levels of long chain fatty acids.considering the defect to be genetic
what other defects it can be related to??

a.neonatal adrenoleukodystrophy
b.menke disease
c.duchenes muscular dystrophy
d.sickel cell disease
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Old 08-02-2011
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A ?!?!?not sure thooo
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Old 08-02-2011
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Adrenoleukodystrophy
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a.neonatal adrenoleukodystrophy
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Old 08-02-2011
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A neonatal adrenoleukodystrophy
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Old 08-02-2011
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adrenoleukodystrophy.Adrenoleukodystrophy progressively damages the myelin sheath, a complex fatty neural tissue that insulates many nerves of the central and peripheral nervous systems. severe type is the childhood cerebral form which, as an X-linked disease, affects males. Symptoms normally start between the ages of 4 and 10 and include loss of previously acquired neurologic abilities, seizures, ataxia, Addison's disease, and degeneration of visual and auditory function.

Diagnosis

The diagnosis is established by clinical findings and the detection of serum very long-chain free fatty acid levels

T2 weighted axial scan at the level of the caudate heads demonstrates marked loss of posterior white matter, with reduced volume and increased signal intensity. The anterior white matter is spared. Features are consistent with X-linked adrenoleukodystrophy.
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Old 08-02-2011
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Quote:
Originally Posted by qurat21 View Post
a new born presents with seizures hypotonia inability to eat his blood screening shows high levels of long chain fatty acids.considering the defect to be genetic
what other defects it can be related to??

a.neonatal adrenoleukodystrophy
b.menke disease
c.duchenes muscular dystrophy
d.sickel cell disease
the baby suffering from zewellger syndrome caused due to defect in peroxisomes
peroxisomes re related to beta oxidattion of ver long chain fatty acids. the syndrome is due to defect in PEX gene n so other coditions associated with PEX mutation r neonatal adrenoleukodystrophy n infantile Refsum dis.
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Quote:
Originally Posted by usmlemydream View Post
adrenoleukodystrophy.Adrenoleukodystrophy progressively damages the myelin sheath, a complex fatty neural tissue that insulates many nerves of the central and peripheral nervous systems. severe type is the childhood cerebral form which, as an X-linked disease, affects males. Symptoms normally start between the ages of 4 and 10 and include loss of previously acquired neurologic abilities, seizures, ataxia, Addison's disease, and degeneration of visual and auditory function.

Diagnosis

The diagnosis is established by clinical findings and the detection of serum very long-chain free fatty acid levels

T2 weighted axial scan at the level of the caudate heads demonstrates marked loss of posterior white matter, with reduced volume and increased signal intensity. The anterior white matter is spared. Features are consistent with X-linked adrenoleukodystrophy.
great explanation man
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