neuronal intestinal dysplasia type A

An intestinal pseudo-obstruction that is characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine.

Signs and symptoms

• Hearing impairment
• Aganglionic megacolon
• Atresia of the external auditory canal
• Aplasia of the olfactory bulb
• Ptosis
• Functional intestinal obstruction
• Vomiting
• Episodic abdominal pain
• Dysarthria
• Gait ataxia