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Holoprosencephaly

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Submitted By thresa
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Holoprosencephaly(HPE)
HPE is a rare condition. One in every ten thousand births is affective. Life is not compatible with HPE.
This is a development of the face and cranium is usually happens in the first trimester about 6 weeks. The exact cause is unknown. It has been linked to chromosomes 13 called trisomy 13. Mothers that are diabetic have an increased risk of developing HPE. Other factors include history of miscarriages and bleeding in the first trimester, infection during pregnancy,(herpes, syphilis, rubella and toxoplasmosis), medications during pregnancy(alcohol, aspirin, lithium, thorazine, anticonvulsants, hormones, retinoic acid, and nicotine).
The general appearance of children with HPE may have a smaller head, extra fluid on the brain and different degrees of mental disabilities. The facial disability is the flattened nose and the cleft lip and palate. These children also have uncontrolled seizures.
There three type of HPE the mildest is Lobar HPE where the brain almost separates into hemispheres in these cases the brain function almost normally.
The next type is semilobar HPE this type occurs when the brain is only partially divided. Semilobar HPE occurs when the left and the right frontal and parietal lobes are fused and the inter part of the brain is only partial fused.
The worse on and the one my patient has is called Alobar HPE. It is where the brain is one large lobe. There is not any division of the lobes at all. These children only live to the age of four to six months.
There is no cure or treatment. Treatment is aimed in keeping the child comfortable.

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Uptodate wolters Kluwer facial clefts and holoprosencephaly, http://www.uptodate.com/contents/facial-clefts-and-holoprosencephaly…...

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