What are the other Names for this Condition? (Also known as/Synonyms)

• CIIP, X-Linked
• CIIPX (X-Linked Congenital Idiopathic Intestinal Pseudoobstruction)
• X-Linked Congenital Idiopathic Intestinal Pseudoobstruction

What is Neuronal Chronic Idiopathic X-Linked Intestinal Pseudoobstruction? (Definition/Background Information)

• Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract
  • When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction
  • The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction
• The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic)
• Neuronal Chronic Idiopathic X-linked Intestinal Pseudoobstruction is caused by alterations (mutations) in the FLNA gene, which is located on the X chromosome
• Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging
• There is no specific treatment but several medications and procedures may be used to treat the symptoms of Neuronal Chronic Idiopathic X-linked Intestinal Pseudoobstruction

(Source: Intestinal Pseudoobstruction Neuronal Chronic Idiopathic X-Linked; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Neuronal Chronic Idiopathic X-Linked Intestinal Pseudoobstruction? (Age and Sex Distribution)

• Neuronal Chronic Idiopathic X-Linked Intestinal Pseudoobstruction is a rare congenital disorder. The presentation of symptoms may occur at birth
• The condition predominantly affects males
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Neuronal Chronic Idiopathic X-Linked Intestinal Pseudoobstruction? (Predisposing Factors)

• A positive family history may be an important risk factor, since Neuronal Chronic Idiopathic X-Linked Intestinal Pseudoobstruction can be inherited
• Currently, no other risk factors have been clearly identified for this condition

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Neuronal Chronic Idiopathic X-Linked Intestinal Pseudoobstruction? (Etiology)

• Neuronal Chronic Idiopathic X-Linked Intestinal Pseudoobstruction is caused by mutation(s) in FLNA gene
• The FLNA gene is located on the X-chromosome and the causative mutations are inherited in an X-linked manner

X-linked inheritance: A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

What are the Signs and Symptoms of Neuronal Chronic Idiopathic X-Linked Intestinal Pseudoobstruction?

The signs and symptoms of Neuronal Chronic Idiopathic X-Linked Intestinal Pseudoobstruction may include:

• Abdominal distention
• Abnormal facial shape
• Downslanted palpebral fissures
• Feeding difficulties in infancy
• Hypertelorism
• Increased mean platelet volume
• Increased size of the mandible
• Intestinal malrotation
• Intestinal pseudo-obstruction
• Low-set ears
• Patent ductus arteriosus
• Smooth philtrum
• Vomiting

Occasionally present symptoms in 5-29% of the cases:

• Congenital shortened small intestine
• Hydronephrosis
• Pyloric stenosis
• Seizures
• Spastic diplegia

(Source: Intestinal Pseudoobstruction Neuronal Chronic Idiopathic X-Linked; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Neuronal Chronic Idiopathic X-Linked Intestinal Pseudoobstruction Diagnosed?

Neuronal Chronic Idiopathic X-Linked Intestinal Pseudoobstruction is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary
• Molecular genetic testing to check for or confirm causative gene mutation(s)

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Neuronal Chronic Idiopathic X-Linked Intestinal Pseudoobstruction?

The complications of Neuronal Chronic Idiopathic X-Linked Intestinal Pseudoobstruction may include:

• Malabsorption
• Weight loss or inadequate weight gain
• Risk of falls and injury due to seizures

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Neuronal Chronic Idiopathic X-Linked Intestinal Pseudoobstruction Treated?

There is no cure for Neuronal Chronic Idiopathic X-Linked Intestinal Pseudoobstruction, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops.

How can Neuronal Chronic Idiopathic X-Linked Intestinal Pseudoobstruction be Prevented?

Currently, Neuronal Chronic Idiopathic X-Linked Intestinal Pseudoobstruction may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Neuronal Chronic Idiopathic X-Linked Intestinal Pseudoobstruction? (Outcomes/Resolutions)

• The prognosis of Intestinal Pseudoobstruction Neuronal Chronic Idiopathic X-Linked is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Neuronal Chronic Idiopathic X-Linked Intestinal Pseudoobstruction:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/