Intestinal neuronal dysplasia (IND) is an inherited disease of the intestine that affects one in 3000 children and adults. The intestine uses

peristalsis Peristalsis ( , ) is a type of intestinal motility, characterized by symmetry in biology#Radial symmetry, radially symmetrical contraction and relaxation of muscles that propagate in a wave down a tube, in an wikt:anterograde, anterograde dir ...

to push its contents toward the

anus In mammals, invertebrates and most fish, the anus (: anuses or ani; from Latin, 'ring' or 'circle') is the external body orifice at the ''exit'' end of the digestive tract (bowel), i.e. the opposite end from the mouth. Its function is to facil ...

; people with IND have a problem with the

motor neuron A motor neuron (or motoneuron), also known as efferent neuron is a neuron whose cell body is located in the motor cortex, brainstem or the spinal cord, and whose axon (fiber) projects to the spinal cord or outside of the spinal cord to directly o ...

s that lead to the intestine, inhibiting this process and thus preventing digestion. It can often be confused for

Hirschsprung's disease Hirschsprung's disease (HD or HSCR) is a birth defect in which nerves are missing from parts of the intestine. The most prominent symptom is constipation. Other symptoms may include vomiting, abdominal pain, diarrhea and slow growth. Most child ...

, as both have similar symptoms.

Presentation

IND can be grouped into NID A and NID B, with the "A" form affecting the sympathetic innervation, and the "B" version affecting the

parasympathetic The parasympathetic nervous system (PSNS) is one of the three divisions of the autonomic nervous system, the others being the sympathetic nervous system and the enteric nervous system. The autonomic nervous system is responsible for regulat ...

innervation. In 2002 Martucciello and colleagues published the first analysis of associated anomalies in IND population is an important clinical approach to investigate possible pathogenetic correlations. Two recessive syndromes were identified (3 families). The first was characterized by NID B, intestinal malrotation, and congenital short bowel, the second by NID B, short stature, mental retardation, and facial dysmorphism. In this study, gastrointestinal anomalies accounted for 67.4% of all associated disorders. These data suggest a strong correlation between IND and intestinal development.

Diagnosis

Treatment

Conservative treatment involves the long term use of

laxative Laxatives, purgatives, or aperients are substances that loosen stools and increase bowel movements. They are used to treat and prevent constipation. Laxatives vary as to how they work and the side effects they may have. Certain stimulant, lubri ...

s and

enema An enema, also known as a clyster, is the rectal administration of a fluid by injection into the Large intestine, lower bowel via the anus.Cullingworth, ''A Manual of Nursing, Medical and Surgical'':155 The word ''enema'' can also refer to the ...

s, and has limited success. Dietary changes in order to control the disease are ineffective and high fiber diets often worsen the symptoms in children. As a last resort, surgical treatment (internal sphincter myectomy or

colon resection Colectomy (''wikt:colo-#Prefix, col-'' + ''wikt:-ectomy#Suffix, -ectomy'') is the surgical removal of any extent of the Large intestine#Structure, colon, the longest portion of the large bowel. Colectomy may be performed for prophylactic, curativ ...

) is used.

References

External links

{{Medical resources , DiseasesDB = , ICD10 = , ICD9 = , ICDO = , OMIM = 243180 , OMIM_mult = {{OMIM, 601223, , none , MedlinePlus = , eMedicineSubj = , eMedicineTopic = , MeshID = Gastrointestinal tract disorders