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CASE STUDY

(MOBIUS SYNDROME)
Submitted by: Aquino, Cris Meah I.

Submitted to:

Mbius Syndrome (also spelled Moebius) is an extremely rare congenital neurological disorder which is characterized by facial paralysis and the inability to move the eyes from side to side. Most people with Mbius syndrome are born with complete facial paralysis and cannot close their eyes or form facial expressions. Limb and chest wall abnormalities sometimes occur with the syndrome. Most people with Mbius syndrome have normal intelligence, although their lack of facial expression is sometimes incorrectly taken to be due to dullness or unfriendliness. It is named for Paul Julius Mbius, a neurologist who first described the syndrome in 1888.
It has been approximated that, on an average, there are about two to twenty cases of Moebius syndrome in 1 million births. Its uncommonness is often responsible for delay in its identification; nonetheless, children having this disorder can be identified at birth by the mask-like impassiveness and by a failure to suck while nursing. Also, one having the disorder can not track objects by moving their eyes laterally, instead, they move their head. Clinical features Mbius syndrome results from the underdevelopment of the VI and VII cranial nerves. The VI cranial nerve controls lateral eye movement, and the VII cranial nerve controls facial expression. People with Mbius syndrome are born with facial paralysis and the inability to move their eyes laterally. Often, the upper lip is retracted due to muscle shrinkage. Occasionally, the cranial nerves V and VIII are affected. If cranial VIII is affected, the person experiences hearing loss. Other symptoms that sometimes occur with Mbius syndrome are:

Limb abnormalitiesclubbed feet, missing fingers or toes Chest-wall abnormalities (Poland Syndrome) Crossed eyes (strabismus) Difficulty in breathing and/or in swallowing Corneal erosion resulting from difficulty in blinking

Children with Mbius syndrome may have delayed speech because of paralysis of the lips. However, with speech therapy, most people with Mbius syndrome can develop understandable speech. Mbius syndrome has been associated with increased occurrence of the symptoms of autism. However, some children with Mbius syndrome are mistakenly labeled as mentally retarded or autistic because of their expressionless faces, strabismus, and frequent drooling. Many people with Moebius syndrome are born with a small chin (micrognathia) and a small mouth (microstomia) with a short or unusually shaped tongue. The roof of the mouth may have an abnormal opening (cleft palate) or be high and arched. These

abnormalities contribute to problems with speech, which occur in many children with Moebius syndrome. Dental abnormalities, including missing and misaligned teeth, are also common. Moebius syndrome also affects muscles that control back-and-forth eye movement. Affected individuals must move their head from side to side to read or follow the movement of objects. People with this disorder have difficulty making eye contact, and their eyes may not look in the same direction (strabismus). Additionally, the eyelids may not close completely when blinking or sleeping, which can result in dry or irritated eyes. Other features of Moebius syndrome can include bone abnormalities in the hands and feet, weak muscle tone (hypotonia), and hearing loss. Affected children often experience delayed development of motor skills (such as crawling and walking), although most eventually acquire these skills. Some research studies have suggested that children with Moebius syndrome are more likely than unaffected children to have characteristics of autism spectrum disorders, which are a group of conditions characterized by impaired communication and social interaction. However, recent studies have questioned this association. Because people with Moebius syndrome have difficulty with eye contact and speech due to their physical differences, autism spectrum disorders can be difficult to diagnose in these individuals. Moebius syndrome may also be associated with a somewhat increased risk of intellectual disability; however, most affected individuals have normal intelligence.

Moebius Syndrome Causes The precise cause of Moebius syndrome is yet unknown. But, experts say that the following are probable triggers: Vascular Disturbance Maternal Drug Abuse Maternal trauma and or Disease Genetic Abnormalities

Pathological Picture The causes of Mbius syndrome are poorly understood. Mbius syndrome is thought to result from a vascular disruption (temporary loss of bloodflow) in the brain during prenatal development. There could be many reasons that a vascular disruption leading to Mbius syndrome might occur. Most cases do not appear to be genetic.

However, genetic links have been found in a few families. Some maternal trauma may result in impaired or interrupted blood flow (ischemia) or lack of oxygen (hypoxia) to a developing fetus. Some cases are associated with reciprocal translocation between chromosomes or maternal illness. In the majority of cases of Mbius syndrome in which autosomal dominant inheritance is suspected, sixth and seventh cranial nerve paralysis (palsy) occurs without associated limb abnormalities. The use of drugs and a traumatic pregnancy may also be linked to the development of Mobius syndrome. The use of the drugs misoprostol orthalidomide by women during pregnancy has been linked to the development of Mbius syndrome in some cases. Misoprostol is used to induce abortions in Brazil and Argentina as well as in the United States. Misoprostol abortions are successful 90% of the time, meaning that 10% of the time the pregnancy continues. Studies show that the use of misoprostal during pregnancy increases the risk of developing Mbius syndrome by a factor of 30. While this is a dramatic increase in risk, the incidence of Mbius syndrome without misoprostal use is estimated at one in 50000 to 100000 births (making the incidence of Mbius syndrome with misoprostal use, less than one in 1000 births). The use of cocaine (which also has vascular effects) has been implicated in Mbius syndrome.

Moebius Syndrome Treatment There is no particular medical treatment for Moebius syndrome. Treatment is symptomatic and concentrates on dealing with the symptoms of the condition. Surgical intervention may be advised in certain cases; but, surgery has only cosmetic and symptomatic benefits, and is not curative. New borns having trouble feeding require special bottles / feeding tubes to sustain satisfactory nutrition. Also, supplementary energy intake through a feeding gastrostomy tube may be necessary. Speech therapy and physiotherapy are a must; they help enhance motor skills and coordination appreciably; and also aid in improved control over eating and speaking abilities. Corneal ulcers and corneal erosion need to be managed appropriately. Lubrication using eye drops is done to treat dry eye, commonly seen in Moebius syndrome patients. Ophthalmologists usually delay surgery for strabismus, given that, the condition frequently improves as the patients age progresses. Surgery helps rectify crossed eyes and also helps take care of the cornea. Physical therapy helps deal with musculo-skeletal problems, such as club foot. Splints, prostheses, and even prophylaxis for deep venous thrombosis are recommended. In case of structural anomalies of the ear, otitis media tends to make matters worse for the

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Counseling and psychotherapy are very important; counseling helps improve situations, particularly, when the affected child reaches an age when he is self aware, and becomes conscious of the fact that others note his facial immobility. Facial movements might improve with age. Intelligence tests and neuro-psychological exams help calculate and support probable learning deficiencies, visual apraxias and autism. Air way functioning very commonly gets compromised. Tracheotomy is advised to support the air way function and help in tracheo-bronchial clearing. Re-animation techniques may be done to tackle facial nerve paralysis. Restoration of function is more successful if the surgery is carried out before the age of 7 years. Although there is no cure for Moebius syndrome and despite the impairments; proper care and management can give patients a normal life. Those diagnosed with Moebius syndrome can lead successful lives. On the other hand, facial expressions are necessary for social relations, and people might have difficulty in identifying and understanding the emotions of Moebius syndrome patients. A Moebius syndrome patient can not smile, and may therefore appear hostile or unresponsive. Nevertheless, family and friends who know him can identify other signs of emotion, like, their body language.