Gomez Lopez Hernandez Syndrome

Matthew's eye surgery

2010-06-04T06:40:00.000-07:00

Matthew had surgery on his eyes last Tuesday to correct his strabismus. All went well, he has freaky looking blood in his eyes, but the doctor stated that it will go away in a couple of weeks. He does not seem to be in any pain.

He now is going to pre-school, he has an aid to help keep him safe, and to try and keep him focused. With the exception of initial separation anxiety he is doing very well.

Also, I would like to say happy birthday to my wonderful wife, she is very patient and has relentless dedication to our family. I love you.

Cameron's Facebook page

2010-05-04T09:52:00.000-07:00

A family started a facebook page for their son Cameron, who has GLH Syndrome.

The link to the page is:

http://www.facebook.com/home.php?#!/group.php?gid=112448538791527&v=wall

VCTERL-H Syndrome

2010-02-16T15:11:00.000-08:00

Interesting; most of us know that rhombencephalosynapsis can occur without having GLH, however, I have thought of Gomez-Lopez-Hernandez Syndrome to be the only known syndrome associated with rhombencephalosynapsis. This abstract (http://www.ncbi.nlm.nih.gov/pubmed/19057916) states that VACTERL-H may be another associated syndrome. In the old Rooms of Jade forum, I read of some people missing their radius bone, which is one of the abnormalities caused by VCTERL-H. Another symptom of VCTERL-H is hydrocephalus.

pic 12

2010-02-16T08:47:00.003-08:00

pic 12, originally uploaded by McCollough Family.

pic 9

2010-02-16T08:47:00.001-08:00

pic 9, originally uploaded by McCollough Family.

pic 6

2010-02-16T08:46:00.001-08:00

pic 6, originally uploaded by McCollough Family.

pic 3

2010-02-16T08:19:00.001-08:00

pic 3, originally uploaded by McCollough Family.

Matthew with Monty and Cooper

pic 2

2010-02-16T08:18:00.001-08:00

pic 2, originally uploaded by McCollough Family.

Matthew with our dog Monty

Matthew 2

2010-01-29T19:24:00.001-08:00

Matthew 2, originally uploaded by McCollough Family.

Matthew

2010-01-29T11:25:00.001-08:00

movie 4, originally uploaded by McCollough Family.

Matthew riding his bike

Matthew Singing

2010-01-29T11:16:00.001-08:00

movie 1, originally uploaded by McCollough Family.

Matthew singing into the computer video camera. He is fascinated with seeing himself.

Halloween 2009

2010-01-28T15:50:00.001-08:00

DSC_8187, originally uploaded by McCollough Family.

He was a bug for halloween this year

Cancun

2010-01-28T15:02:00.001-08:00

VID00004, originally uploaded by McCollough Family.

Matthew in Cancun Jan 2010

DSC_1880

2010-01-28T14:57:00.001-08:00

DSC_1880, originally uploaded by McCollough Family.

2 year old B-day party

2010-01-28T10:20:00.000-08:00

Updated Pictures

2010-01-27T19:28:00.000-08:00

Matthew is doing very well. We had an evaluation from his therapists and they stated that his gross motor skills and cognitive skill are at or above the average for children his age. He is about 4 to 5 months behind in fine motor skills.

He is still having problems with eating and weight gain. He is still very hyper as you will see in the videos.

I will attache videos and update his picture page to show recent pictures.

2009-09-29T15:25:00.001-07:00

A quick update.

My son entered a study at UC Davis and took several tests, I.Q. test, physical ability, etc. and was ahead of his age group in every category except fine motor skills. Dr. Elliot Sherr stated that he is doing so well that he should be a poster child for Rhomboencephalosynapsis.

He is still having eating issues, and is behind in weight and height, but we consider ourselves very lucky that this condition has not affected his ability to advance both physically and mentally.

Matthew in Palm Springs

2009-03-03T14:15:00.000-08:00

Matthew still has balance issues, but is getting much better. It gets worse as he gets tired, and he seems to have problems in new area. We are still having problems getting him to eat. Sometimes he is not interested, sometimes he gags when he eats, and sometimes he gags when we show him food. He is now 22 months and weighs 21 lbs.

2009-03-03T14:07:00.000-08:00

Matthew in Palm Springs

He is now walking very well. Matthew has Gomez Lopez Hernandez Syndrome.

2008-10-27T15:27:00.000-07:00

Matthew at Bishops Pumpkin Farm age 17 months. He has started walking a little.

Pictures of Matthew's MRI

2008-10-21T17:49:00.000-07:00

You can go to the following link to view all of the MRI slides.

http://s452.photobucket.com/albums/qq241/MatthewMRIpics/

Matthew walking

2008-10-21T14:36:00.000-07:00

Here is a QuickTime video of Matthew trying to walk. I took this with my phone, so not the best quality. Matthew is about 16 months old and has Rhombencephalosynapsis.

MRI

2008-10-21T14:14:00.000-07:00

Another slide showing fused cerebellum

2008-10-21T13:40:00.000-07:00

I will post several pictures of his MRI.

From what our neurologist told us, it is clear that the cerebellum has no hemispheres, and apparently his ventricles are quite dilated. However, he does not think that hydrocephalus is the cause. He feels that the ducts are open and should be draining.

Matthew

2008-10-21T12:04:00.000-07:00

Matthew was born on April 25 2007.

Matthew is behind in walking (ataxia), talking and physical size. He can stand up on his own and start to walk, but stumbles along the way. I have seen him walk approximately 15 feet without falling. When he crawls he constantly shakes his head back and forth. He does the same when he is walking (even if he is holding on to something) and he seems to shake his head when he is tired. With the exception of his walking, physically he is not that far behind. He is very efficient at crawling and in his toddler gymnastics he is ahead of the class. He goes up and down stairs with ease, he has figured out ways to crawl up to the kitchen counters (we have to keep chairs and stools away from the bar tops and lock all the drawers) and he can climb up a high bed by stepping on the frame and get down by himself. He scares us because he seems to have no fear.
Cognitively he seems okay, actually he seems to have very good problem solving skills, he is determined is his tasks. For example he has on occasion unbuckled his car seat and he is starting to manipulate the child locks on the cabinets (you can see him look at the locks and he realizes they are stopping the doors so he tries to tear them off). In playing with toys, watching videos, and playing games he has a very short attention span. He will look at something for a few moments and then move on. The one exception to this seems to be cords or ropes. He likes to play with phone cords and jump ropes.
His speech is behind, however, he will copy tones, tunes and syllables. For example, if you hum a short tune, his mimic is surprisingly accurate. If you tell him to say a three syllable word he will produce a sound that is three syllables.

Rhombencephalosynapsis

2008-10-21T12:02:00.000-07:00

Rhombencephalosynapsis is a rare congenital abnormality characterised by dorsal fusion of the cerebellar hemispheres, agenesis or hypogenesis of the vermis, fusion of dentate nuclei and superior cerebellar peduncles (Toelle et al., 2002). In this sense, it may be viewed as a condition with failure to form the midline structures of the cerebellum, akin to holoprosencephaly, which affects primarily the cerebral cortex. There are often associated cerebral cortical malformations, such as corpus callosum hypoplasia or cortical dysplasia (Mendonca et al., 2004), but major features of holoprosencephaly are not typically associated. Clinical findings range from mild truncal ataxia and normal cognitive abilities to severe cerebral palsy and mental retardation. This broad spectrum may be a result of the frequent association with hydrocephalus.