LISSENCEPHALY


WHAT IS LISSENCEPHALY 

Lissencephaly, which literally means “smooth brain,” is a rare, gene-linked brain malformation characterized by the absence of normal convolutions (folds) in the cerebral cortex and an abnormally small head (microcephaly). In the usual condition of lissencephaly, children usually have a normal sized head at birth. In children with reduced head size at birth, the condition microlissencephaly is typically diagnosed. Lissencephaly is caused by defective neuronal migration during embryonic development, the process in which nerve cells move from their place of origin to their permanent location within the cerebral cortex gray matter. Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, muscle spasms, seizures, and severe psychomotor retardation. Hands, fingers, or toes may be deformed. Lissencephaly may be associated with other diseases including isolated lissencephaly sequence, Miller-Dieker syndrome, and Walker-Warburg syndrome. Sometimes it can be difficult to distinguish between these conditions clinically so consultation with national experts is recommended to help ensure correct diagnosis and possible molecular testing.




IS THERE ANY TREATMENT? 
There is no cure for lissencephaly, but children can show progress in their development over time. Supportive care may be needed to help with comfort, feeding, and nursing needs. Seizures may be particularly problematic but anticonvulsant medications can help. Progressive hydrocephalus (an excessive accumulation of cerebrospinal fluid in the brain) is very rare, seen only in the subtype of Walker-Warburg syndrome, but may require shunting. If feeding becomes difficult, a gastrostomy tube may be considered.

WHAT IS PROGNOSIS?
The prognosis for children with lissencephaly depends on the degree of brain malformation. Many will die before the age of 10 years. The cause of death is usually aspiration of food or fluids, respiratory disease, or severe seizures. Some will survive, but show no significant development — usually not beyond a 3- to 5-month-old level. Others may have near-normal development and intelligence. Because of this range, it is important to seek the opinion of specialists in lissencephaly and support from family groups with connection to these specialists.


2 comments:

  1. I heard about your family and your daughters story. I was reading a book a while back and it is called Unreasonable Hope by Chad Veach. He's a pastor in LA and he and his wife have a daughter who has the same condition as Harlow and her name is Georgia. I don't know if you've heard it or have been told about it but I wanted to suggest it to you. In the book he talks about "Finding Faith in the God who brings purpose to your pain". He talks about how hard this has been on his wife and his family and what it's like for them. He explains the great things that they have gone through and the hard times as while. He talks about how he has hope in God for healing their daughter when the doctors are only telling him the "Nevers" she will have in life and that he believes that she can and will be healed. I just wanted to let you know about this book! I think it was great and really eye opening. I'm praying for Harlow and your family!

    ReplyDelete
  2. Our daughter had lissencephaly. She died after not even 4 months. It's the worst thing that ever happened. And I'm just wondering why? Greetings from Germany #prayformarika #prayforharlow

    ReplyDelete

CopyRight © | Theme Designed By Hello Manhattan