Intestinal Pseudoobstruction Caused by Neuronal Disease

At a glance

Functional intestinal obstruction associated with a variety of pathologic conditions. Colonic motility disorder associated with characteristic histochemical changes of the bowel wall. Clinical features can include abdominal pain, nausea, severe distension, vomiting, dysphagia, diarrhea, and constipation, depending upon the part of the gastrointestinal tract involved. The condition can begin at any age and it is either idiopathic or inherited or caused by another medical condition (see “Other conditions to be considered”).

Synonyms

Chronic Idiopathic Pseudoobstruction; Deficiency of Argyrophil Myenteric Plexus; Intestinal Neuronal Dysplasia (IND) Type A; Neuronal Intestinal Dysplasia.

Incidence

Fewer than 20 patients have been reported. It can be seen at any age.

Genetic inheritance

Sporadic, autosomal dominant, and autosomal recessive.

Pathophysiology

It presents as a wide spectrum of pathologic disorders that are classified as: (1) neuronal intestinal dysplasia (NID) Type A: hypoplasia or aplasia of the intestinal sympathetic innervation; (2) NID Type B: hyperplasia of the submucosal parasympathetic plexus; and (3) other diseases: degenerative processes involving the myenteric plexus, combinations of NID B and aganglionosis (Hirschsprung Disease), or hypoganglionosis. This group of disorders results in ineffective intestinal propulsion with various degrees of aperistalsis and clinical manifestations.

Diagnosis

Clinical course. NID A: Younger than 6 months with bloody stools and spastic diarrhea (in cases with immaturity of the sympathetic innervation: complete cessation of the ulcerative colitis after temporary colostomy). NID B: Severe constipation, subileus, sometimes attacks of or persistent malabsorption (treatment usually conservative). Although NID B appears clinically similar to Hirschsprung disease, there is no aganglionosis of intramural plexuses. NID B may be associated with intestinal malrotation, Short Bowel Syndrome, ileal stenosis, colonic atresia, or multiple endocrine neoplasias Type II (MEN IIA and IIB). Some infants with pyloric hypertrophy have an associated functional intestinal obstruction with small intestine malrotation and Short Bowel Syndrome. Chronic neuropathic intestinal pseudoobstruction with ophthalmoplegia, ptosis, hearing loss, and severe sensory and motor peripheral neuropathy also described. Radiographic examination, electromanometry, and transit time studies do not show pathognomonic criteria for specific neuronal intestinal manifestations. Biopsies with histoimmunologic and histochemical analysis of the involved areas give the final diagnosis.

Clinical aspects

As described under Diagnosis: wide spectrum of recurrent episodes of intestinal obstruction in the absence of a mechanical blockage of the lumen; occasional history of prenatal oligohydramnios; and failure to thrive (some patients may be so malnourished that they require total parenteral nutrition with its potential adverse effects). Consider the possibility of associated gastrointestinal, endocrine, and neurologic manifestations.

Precautions before anesthesia

Obtain full history of gastrointestinal symptoms, failure to thrive, and associated endocrine or neurologic diseases. Evaluate patient’s intravascular volume status: clinically, plasma electrolytes, coagulation profile, ...