Discussion in 'Spot Diagnosis' started by Egyptian Doctor, Nov 19, 2012.
What is your medical diagnosis ?
Yep, its anencephaly.
This is a congenital condition known as ANCEPHALY, and is due to failure of closure of the cranial neuropore (of the neural tube) during the 3rd week of intrauterine development. Can be diagnosed prenatal by elevated Alpha-Fetoprotein in maternal serum (or other NTDs), or by Ultrasounography. This can prevented by giving the mother folic acid during the pregnancy period.
Anencephaly - due to Brain Stem and Cerebral Hemispheres failing to connect during fetal development. Increased AFP and increased Acetylcholinesterase can be seen. (AChE will be seen in all NTD except for Spina Bifida occulta)
i dont understand....arent the cerebral hemispheres already developing from the Forebrain part (pronsoncephalon) and the brain stem from the mid and hind brain ( metencphalon and rhomboncephalon)..... and what does acetlycholinesterase got to do with it ?????
Yes they do originate from separate parts of the brain. It is true that anencephaly can occur do to different reasons (sorry I should have made that clear). One of the ways this can occur is that if the Cerebral Hemispheres do not connect with the Brainstem then the Prosencephalon will not develop. Basically anything causing the neural tube not to fully close can cause this defect.
The increase in AChE is because you find AChE in the brain and Spinal cord therefore if they are open then the AChE will be detected (this also explains why in occulta there would not be a increase in AChE since it does not actually leak out)
Answer : Anencephaly
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