Visceral neuropathy, familial, autosomal recessive
(Intestinal pseudoobstruction due to neuronal disease)
(Argyrophil myenteric plexus, deficiency of)
(Pseudoobstruction, chronic idiopathic intestinal, neuronal type)
(Neuronal intestinal dysplasia, type A; included)
(NID A, included)

腸偽性閉塞, 神経疾患による
(偽性閉塞, 慢性本態性腸, ニューロン型)
(ニューロン性腸異形成A型; NID A)



 Areflexia (無反射) [HP:0001284] [0242]
 Autosomal recessive inheritance (常染色体劣性遺伝) [HP:0000007]
 Colonic diverticula (結腸憩室) [HP:0002253] [12311]
 Dysarthria (構音障害) [HP:0001260] [0230]
 Episodic abdominal pain (エピソード性腹痛) [HP:0002574] [01420]
 Functional intestinal obstruction (機能的腸閉塞) [HP:0005249] [12310]
 Gait ataxia (歩行失調) [HP:0002066] [028]
 Impaired proprioception (固有覚障害) [HP:0010831] [02511]
 Impaired vibratory sensation (振動覚障害) [HP:0002495] [02511]
 Intestinal malrotation (腸回転異常) [HP:0002566] [12313]
 Vomiting (嘔吐) [HP:0002013] [01425]

 持続性腹痛, 腹部膨満と嘔吐
 *巨大十二指腸 +/- *巨大膀胱
 胃食道逆流 01809] → 食道炎
 phenylephrine / Valsalva 手技 / 上向きの姿勢で血圧反射不完全
 (myenteric and other neurons contain round eosinophilic intranuclear proteinaceous inclusions consisting of an irregular array of nonviral
 nonmembrane bound filaments by electron microscopy)
Tanner et al. (1976) described 3 infants with functional intestinal obstruction, short small intestine, malrotation, and pyloric hypertrophy. In all 3, absence of ongoing peristalsis could be related to failure of development of the argyrophil myenteric plexus. They identified 4 previously reported infants with similar symptoms. Affected sibs and parental consanguinity indicated autosomal recessive inheritance. Thickening of the bowel wall, a striking and diagnostic feature at laparotomy, may be 'work hypertrophy' from the stretching of the bowel. Diagnosis is unlikely without laparotomy, which is indicated because of the genetic implications and because prolonged intravenous nutrition is not indicated.

Schuffler et al. (1978) described brother and sister who for 40 years had had intermittent abdominal pain, distention and vomiting as well as ataxia of gait, small, irregular, poorly reactive pupils, dysarthria, absent deep tendon reflexes, and impaired vibratory and position senses. They had inappropriate blood pressure responses to phenylephrine, Valsalva maneuver, and upright posture. They also showed lack of sweating on warming and denervation hypersensitivity of the pupils. Radiographic studies showed hyperactive, nonpropulsive contractions of a dilated esophagus and small intestine, as well as extensive colonic diverticulosis. Both died at age 65 years. Autopsy showed degeneration of the myenteric plexus in the esophagus, small intestine, and colon of both patients. About one-third of the patients' myenteric neurons showed round, eosinophilic intranuclear inclusions which by histochemistry appeared to be exclusively protein and by electron microscopy consisted of an irregular array of nonviral, nonmembrane bound filaments. Neurons and glial cells of the brain, spinal cord, dorsal root, and celiac plexus ganglia contained identical intranuclear inclusions. Intestinal smooth muscle was normal. The parents were not known to be related but all 4 grandparents were born in Wales. The same condition may have been present in 2 families with affected sibs reported by Maldonado et al. (1970) and in the family reported by Schuffler et al. (1978). In some families, inheritance is clearly autosomal dominant (see 609629). As Roy et al. (1980) stated, 'idiopathic intestinal pseudo-obstruction is a manifestation of visceral neuropathology, and belongs to a group of diseases affecting visceral neurons and plexuses...'

In 5 members of 2 Jewish-Iranian families, Faber et al. (1987) described chronic neuropathic intestinal pseudoobstruction associated with an identical, progressive, severe neuronal disease. It appeared within the first 2 decades of life and consisted of external ophthalmoplegia, ptosis, and severe sensory and motor peripheral neuropathy. Three patients also had neuronal hearing loss. There was no evidence of central nervous system involvement, and all patients were mentally intact. This may be a separate disorder from that described here.

Pollock et al. (1991) described the unique case of a child with the combination of chronic intestinal pseudoobstruction and congenital thrombocytopenia with a nonspecific type of giant platelet disorder.

Neuronal Intestinal Dysplasia

Barone et al. (1996) pointed out that Fadda et al. (1983) differentiated 2 clinical and histochemical forms of neuronal intestinal dysplasia, NID A and NID B (601223). NID A is a very rare condition characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine. Patients with NID A are infants with diarrhea, bloody stools, and intestinal spasticity. Their colons show mucosal inflammation and focal destruction of the muscularis mucosae. In NID B the parasympathetic submucous plexus is primarily affected.

(1) Maldonado JE et al. Chronic idiopathic intestinal pseudo-obstruction. Am J Med 49: 203-212, 1970
(2) Tanner MS et al. Functional intestinal obstruction due to deficiency of argyrophil neurones in the myenteric plexus: familial syndrome presenting with short small bowel, malrotation, and pyloric hypertrophy. Arch Dis Child 51: 837-841, 1976
(3) Schuffer MD et al. A familial neuronal disease presenting as intestinal pseudo-obstruction. Gastroenterology 75: 889-898, 1978
(4) Roy AD et al. Idiopathic intestinal pseudo-obstruction: a familial visceral Neuropathy. Clin Genet 18: 291-297, 1980
(5) Fadda B et al. Neuronale intestinale Dysplasie: Eine kritische 10-Jahres-Analyse klinischer und bioptischer Diagnostik Z Kinderchir 38: 305-311, 1983
(6) Faber J et al. Familial intestinal pseudoobstruction dominated by a progressive neurologic disease at a young age. Gastroenterology 92: 786-790, 1987
(7) Steiner I et al. Familial progressive neuronal disease and chronic idiopathic intestinal pseudo-obstruction. Neurology 37: 1046-1050, 1987
(8) Pollack I et al. Congenital intestinal pseudo-obstruction associated with a giant platelet disorder. J Med Genet 28: 495-496, 1991
(9) Barone V et al. Exclusion of linkage between RET and neuronal intestinal dysplasia type B. Am J Med Genet 62: 195-198, 1996