Article Text

Intestinal neuronal dysplasia associated with cystic fibrosis
  1. A TOZZI,
  2. G ASCIONE

    *

    ,
  3. M L CARPENTIERI,
  4. A STAIANO
  1. Departments of Paediatrics and Division of Paediatric Surgery*
  2. University Federico II
  3. Via S Pansini 5
  4. 80131 Naples, Italy

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    Editor,—The association between cystic fibrosis and intestinal neuronal dysplasia (IND) has been rarely described.1 We report a case of full thickness, biopsy proved, IND type B of the ileum and colon associated with cystic fibrosis. The boy was born at full term to non-consanguineous parents. Because of obstructive symptoms, several resections were performed: 20 cm of distal ileum after birth; distal ileum and part of ascending colon at the age of 18 days; ileum, part of jejunum, and colon at the age of 2 months. A series of radiographs of the upper gastrointestinal tract series showed a normal duodenum at 16 months and no dilatations of the remaining intestinal tract. Contrast appeared in the rectum after 90 minutes. By histology, the proximal ileal tract had 6.25 neurons/mm of myenteric plexus, according to Smith’s method (normal values: 2–4),2 the ascending colon 16.0 neurons/mm, and the transverse colon 8 neurons/rnm. Acetylcholinesterase staining showed an increase of number of submucosal ganglia, neuronal heterotopy, and increase of positive fibres in circular muscular layer and lamina propria.3

    NADPH-DH showed an increased number of neurons in myenteric and submucosal plexuses. The study with neurofilaments (NF65, NN18) showed a normal maturity of neurons. The results of two sweat tests were abnormal. An homozygosity for the delta F508 mutation was demonstrated and both parents were carriers of the allele. It is possible that there is an NID-B determining gene linked to the cystic fibrosis transmembrane conductance regulator locus for cystic fibrosis, localised on chromosome 7q.

    We suggest that intestinal neuronal dysplasia should be considered as an underestimated, underlying cause in patients with cystic fibrosis having functional small bowel dysmotility and obstruction leading to emergencies, such as meconium ileus in neonates or meconium ileus equivalent in children and adults.

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