What is a
Hypothalamic
Hamartoma?
The Role of
the Hypothalamus
An informative tutorial about the vital role
of the hypothalamus in maintaining the body's status quo
The Endocrine System
Learn more about the importance of
the endocrine system, hormones and the hypothalamus
MRI Scans of
"The Real Deal"
Actual MRI film of HH
Medical
Articles
Check out our list of references on HH &
Gelastic Seizures, Precocious Puberty and articles on HH and surgery
See a full description of
Seizure
Types
Back to
HHUGS Home Page |
|
Dr Kore Liow, formerly of the National Institutes of Health, and now Medical Director of
the Comprehensive Epilepsy Center at Via Christi Health System, Wichita, Kansas,
writes:
- HH is only one of a few pathology that can cause
gelastic seizures. Others being temporal lobe seizure, infantile spasm, angelmann's
syndrome, hypothalamic gliomas, tumors of the third ventricles and so on.
- The development of HH appear to have at least 2
different mechanisms. One is from a genetic mutation on chromosome 7 leading to a genetic
syndrome, Pallister-Hall syndrome which consist of extra fingers, toes and others. The
children of these patients will have a 50% chance of inheriting the syndrome. The
mechanism for HH development in the sporadic group is still unclear but we are screening
them with genetic blood tests. Do they have a common pathway? Is there any
environmental/toxic factors that need to be considered? These are questions that will be
investigated in my study.
- The development of seizure/epilepsy has a wide
variation in patients with HH. Mild in most with Pallister-Hall but more severe and
intractable in the other group (taking into account size and attachment etc). We are
interested in how the Pallister-Hall group is somewhat "protected" from
seizures. Is it hormonal, genetics? (This will be further evaluated at NIH) And if there
is something, then how can we protect the other group?
- The develoment of seizures has a detrimental
effect on the mental/cognitive developments of the child and has a strong
correlation with behavior. This has not been proven but a formal baseline and follow-up
neuropsy evaluation will probably able to document this. If this is the case, then more
effort should be directed at the cessation of seizures (even the mild ones). I understand
that this issue is close to many parents hearts and I will devote some time to look into
this.
- The results of surgical treatments varies and none
has been able to give me a firm answer so far (Maybe in a few years time I suspect). Dr.
Regis in France says he has success with Gamma Knife in 10 cases but provided no details.
There are of course isolated reports of success everywhere with VNS, total resection, GKS,
SRS, endoscopic surgery......but no controlled studies has ever been done. Dr. Andermann
told me that his group is summarizing results of resection up in Canada. Perhaps we
need to keep looking and pushing for people to publish their data. Once there is some
hint, we are willing to pursue further.
- Almost every antiepilptics (AED) have been used,
with some isolated cases of succeess with some AED. Lamotrigine seems to work the most
effectively if an adequate dose is used (from anecdotal experience). Studies will be
difficult due to different combinations being used. Other novel methods can be considered
(including) caffeine, but more research needs to be done first.
Read more
about Dr Liow's research work in our HH Research section here.
What is a
Hypothalamic Hamartoma?
The Role of the
Hypothalamus
The
Endocrine System
MRI Scans of
"The Real Deal"
Medical
Articles
Full
Description of Seizure Types
Back to HHUGS Home
Page |
