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Moebius syndrome

Mobius syndrome (also spelled Moebius) is an extremely rare neurological disorder. more...

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Clinical features

Mobius syndrome is caused by abnormal development of the cranial nerves. This rare disorder has a number of causes. Most often affected are the cranial nerves VI and VII. Occasionally the cranial nerves V and VIII are affected.

If the cranial nerve VI is affected, the patient suffers from loss of lateral gaze. If cranial nerve VII is affected, the patient suffers from bilateral facial palsy — mask-like expressionless face with mouth constantly held open. If cranial VIII is affected the patient suffers from hearing loss.

Although its rarity often leads to late diagnosis, Infants with this disorder can be identified at birth: by a "mask-like" expression detectable during crying or laughing due to paralysis (palsy) of the sixth and seventh cranial nerves. Other characteristics include:

  • abnormalities in the limbs — their fingers may be webbed, shorter than usual or they may have more than 5 fingers on their hand
  • impaired sucking ability
  • inability to follow objects with the eye—instead the child turns his or her head to follow
  • crossed eyes
  • inability to smile
  • limitation of tongue movement

Later on, the child may develop speech difficulties, crossed eyes, abnormally small eyes, and fluid building up in the lungs, causing bronchopneumonia.

Treatment

There is no specific course of treatment for Mobius syndrome. Treatment is supportive and in accordance with symptoms. Infants may require feeding tubes or special bottles, such as the Haberman Feeder, to maintain sufficient nutrition. Surgery may correct crossed eyes and improve limb and jaw deformities. Physical and speech therapy often improves motor skills and coordination, and leads to better control of speaking and eating abilities. Plastic reconstructive surgery may be beneficial in some individuals. Nerve and muscle transfers to the corners of the mouth have been performed to provide limited ability to smile.

Pathological picture

The causes of Mobius syndrome are poorly understood. Many cases have no obvious cause. Others may be genetic.

Some cases are associated with reciprocal translocation between chromosomes or maternal illness. Some maternal trauma may result in impaired or interrupted blood flow (Ischemia) or lack of oxygen (Hypoxia) to a developing fetus. The use of drugs and a traumatic pregnancy may also be linked to the development of Mobius syndrome. The use of the drugs Misoprostol or Thalidomide by women during pregnancy has been linked to the development of Mobius syndrome in some cases.

Some researchers have suggested that the underlying problem of this disorder could be congenital hypoplasia or agenesis of the cranial nerve nuclei. Certain symptoms associated with Mobius syndrome may be caused by incomplete development of facial nerves, other cranial nerves, and other parts of the central nervous system.

Read more at Wikipedia.org


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WE'RE SMILES BETTER
From Sunday Mirror, 6/13/99 by COLIN WILLS

FOR most of us, smiling comes as naturally as breathing. A way of letting those around us know that all is well, that we are happy and at peace with the world.

For a child not to be able to smile is unthinkable.

Just imagine not being able to express emotion while opening a birthday present, kicking a ball around or stroking the family pet.

But for a small number of children, no matter how hard they try, smiling is simply impossible.

Their feelings are imprisoned in faces set as hard as ice.

David Meiklem and Sean Barnes are two eight-year-olds who up until a short time ago had never been able to show their happiness in any recognisable way. They suffer from the rare illness Moebius Syndrome, and the pain and sadness they endured is almost impossible to imagine.

There are only 1000 cases of Moebius Syndrome in the world, and each is a personal tragedy. Put simply, sufferers are born short of some of their facial nerves, preventing movement of the muscles that signal joy.

The only way David and Sean could show they were happy was to raise their arms to the sky and clap their hands. Now, thanks to a revolutionary operation involving what is to all intents and purposes a "smile graft", David and Sean's faces can light up for the first time.

Their grins look a little strained, but they are undeniably there.

It marks the end of a desperate childhood. David withdrew inside himself. His parents often caught him pulling on his lips to look like other children. One night, he asked a question which almost broke Colin's heart. "Dad," he said. "Why can't I smile? Aren't I happy?" Sean had to endure the taunts and ridicule of other children. But he never once complained. Sean and David's parents, who live close to each other near Edinburgh, were resigned to drying tears all through their sons' childhoods.

Then they heard of the work being done by surgeon Dr Douglas Harrison and arranged an appointment. Even though the cost of the operations - pounds 16,000 - was met by the NHS, this did not mean the boys were automatically suitable. Not all Moebius sufferers can undergo surgery.

If the facial muscles they do have are not developed enough, they could risk losing the ability to chew their food.

Happily Sean and David, who went to the same nursery school, were OK, and so, on separate days, they went to the Mount Vernon Hospital in the London suburb of Northwood.

Before he left home, David's main concern was that the hospital would have video games. His next question showed just how much he associated smiling with the expression of joy. "Will the doctor make me happy?" he asked.

The enormity of what he was about to face only hit little Sean at the last moment. At the hotel in Rickmansworth where he was staying with his parents, Robert and Linda, the night before he was admitted to hospital, he broke down and cried. Then he remembered the games of football he had played with his brother Steven and how he couldn't smile when he scored a goal. He went to sleep repeating, "I'm not scared...I'm not scared." The boys faced two operations each, three months apart. First one side of the face is done, then the other.

A small muscle is taken from under the shoulder blade, grafted onto the cheek and connected with the nerve responsible for chewing and smiling. The surgery was successful, but David and Sean couldn't simply start smiling the moment the bandages came off. Muscles that have never been used before have to be coaxed into life.

A mirror was put in David's bedroom and he sat in front of it for hours, clenching his teeth again and again. David's mum Fiona spent hours at his bedside gently tracing patterns with the tip of a paintbrush on his face and nose.

One day, while David was so relaxed he was on the brink of falling asleep, it happened. Playing around his lips was his very first half smile.

Sean, too, has had to work hard in front of the mirror, clamping his teeth together to stimulate the new muscles.

Now, the smiles come broad and unbidden. They will never be completely natural, but they exist. Colin, David's father, thinks David might begin to feel awkward again when he reaches his teens. But in the meantime he is revelling in it.

"He's happy and he's building a new self-confidence," Colin says. "The improvement in him is mainly psychological.

"His face 'works' like everyone else's. It doesn't worry him any more."

Copyright 1999 MGN LTD
Provided by ProQuest Information and Learning Company. All rights Reserved.

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