Total intestinal aganglionosis presenting as duodenal obstruction.

Ahmed, Shireen; Cohen, S J; Jacobs, Shannon

doi:10.1136/adc.46.250.868

Cited by 15 publications

(3 citation statements)

References 3 publications

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“…However, in one strain of mice a similar condition appears to be inherited as an autosomal recessive (Bielschowsky and Schofield, 1962). If the family reported here and the 10 previously reported cases of total intestinal aganglionosis are combined (Lee, 1955;Boggs and Kidd, 1958;Bodian and Carter, 1963;Walker et al, 1966;Ahmed et al, 1971;Talwalker, 1976) 50% of sibs are affected, and none with a lesser degree of aganglionosis. In those reports which include a description of other sibs (Fig.…”

mentioning

confidence: 52%

Idiopathic late-onset immunoglobulin deficiency with associated defect in cell-mediated immunity.

Lo¹,

Sin²,

Ho³

et al. 1977

Archives of Disease in Childhood

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mentioning

confidence: 52%

Idiopathic late-onset immunoglobulin deficiency with associated defect in cell-mediated immunity.

Lo¹,

Sin²,

Ho³

et al. 1977

Archives of Disease in Childhood

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“…Of the 11 puhlished cases, 6 came from three families. In MacKinnon's case (2) the diagnosis was established during life, as the patient was a sibling of a previously recorded case (3). All cases published have been fatal in the first 4 weeks of life.…”

Section: Discussionmentioning

confidence: 99%

Total Small Bowel and Colon Aganglionosis

Fj¹,

Kootstra²

1981

Eur J Pediatr Surg

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A case of total small bowel and colon aganglionosis is presented and 11 previous cases are briefly reviewed. The relatively long survival of our patient in an excellent condition provided the possibility of studying the behaviour of the aganglionic small bowel, disclosing that in the absence of propulsion, absorption is uninvolved and enteral feeding is possible. Aganglionosis of the ileum does not imply absence of muscle activity (leading to misleading bowel sounds and visible peristalsis on X-ray studies), and often the affected small bowel is dilated. In cases of Hirschsprung's disease with small bowel involvement we recommend as routine a full thickness biopsy of the jejunum, to ensure early diagnosis of the fatal disease of total intestinal aganglionosis.

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“…This is a fatal condition and fortunately is rare. The patient described here is a further affected sib in the family reported by Ahmed et al in 1971. The second child born in the family was a normal healthy female.…”

Section: Total Intestinal Aganglionosismentioning

confidence: 90%

Total intestinal aganglionosis. An autosomal recessive condition?

MacKinnon¹,

Cohen²

1977

Archives of Disease in Childhood

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The risk of long-segment Hirschsprung's disease recurring in further sibs of a patient is well known.Ehrenpreis (1970) estimated the incidence to be 121 %.The extreme variety of this condition in which the entire large and small bowel is aganglionic seems to constitute a separate group. This is a fatal condition and fortunately is rare. The patient described here is a further affected sib in the family reported by Ahmed et al. in 1971. The second child born in the family was a normal healthy female. Case reportThe male third child of healthy unrelated white British parents was born at 38 weeks' gestation by normal delivery at home. When feeding was begun he vomited bile-stained fluid. He was admitted as an emergency to hospital late on the third day of life, by which time he had not passed meconium; he was not dehydrated and weighed 3 02 kg. The abdomen was distended but soft. Rectal examination suggested the presence of a microcolon. The full details of the family history were not then available and the possibility of total intestinal aganglionosis was not considered. It was only later that the case notes of the eldest sib were made available, showing that she had died at the age of 20 days from total intestinal aganglionosis.Hb was 16 6 g/dl, WBC 5 7x 109/1. Serum electrolytes were normal. X-ray of abdomen showed several distended intestinal loops with fluid levels, while in the right lower quadrant there was the characteristic stippled appearance of meconium. A diagnosis was made of small bowel obstruction possibly due to a complicated meconium ileus. At laparotomy the proximal third of the small bowel was grossly distended with a serosal tear already present. The terminal ileum was full of putty-like meconium and was of narrow calibre, as was the colon. The contents of the proximal small bowel were more fluid than commonly found in meconium ileus. The jejunum was deflated by aspiration and the serosal tear repaired, and a caecostomy was established through which the distal ileum was emptied.The following day, after reviewing the case notes of the eldest sib, the diagnosis of total intestinal aganglionosis was considered. This was confirmed firstly by rectal biopsy, then at a further laparotomy the extent of the aganglionic segment was shown to include the entire small bowel. The child died 14 days after admission and post-mortem studies showed that there were ganglion cells present only as far as the pylorus. Discussion

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Total intestinal aganglionosis presenting as duodenal obstruction.

Cited by 15 publications

References 3 publications

Idiopathic late-onset immunoglobulin deficiency with associated defect in cell-mediated immunity.

Idiopathic late-onset immunoglobulin deficiency with associated defect in cell-mediated immunity.

Total Small Bowel and Colon Aganglionosis

Total intestinal aganglionosis. An autosomal recessive condition?

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