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Internal Anal Sphincter Achalasia (IASA)

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Hirschsprung’s Disease and the Allied Disorders

Abstract

The concept of internal anal sphincter achalasia (IASA) was first described by Davidson and Bauer in 1958. Their reported three cases with constipation since birth and presented with fecal impaction and soiling had moderately dilated rectum without any zone of narrowing in barium enemas. Injection of acetylbetamethylcholine (Mecholyl®), a potent parasympathetic drug, displayed the proximal relaxation but no relaxation distally, which indicated that they would have aganglionosis in the terminal rectum. However, histological study of the specimen revealed the presence of ganglia in all areas, and they described the condition as “achalasia of the distal rectal segment.” Although they did not use the term “ultrashort Hirschsprung’s disease” in the paper, a short area of achalasia proximal to the anus was considered as a very short segment of aganglionosis, and the diagnostic label of ultrashort Hirschsprung’s disease prevailed since, and this entity has been reported in many literatures as ultrashort Hirschsprung’s disease. However, since the authors arbitrarily included patients into this category, there has been some confusion on this entity. And it has been proposed that the term ultrashort Hirschsprung’s disease should be replaced by internal anal sphincter achalasia. In the consensus workshop on “Criteria for Classification and Diagnosis of Dysganglionoses” held in 2004, participants agreed on the issue of Internal Anal Sphincter Neurogenic Achalasia that the diagnosis of the entity is the result of clinical, manometric, and histochemical studies, and none excluded manometry as enzymatic histochemistry, and histology alone cannot provide the diagnosis. Now the diagnosis of IASA is based on (1) anorectal manometry that shows the absence of rectosphincteric reflex on rectal balloon inflation and the presence of marked rhythmic activity of the internal anal sphincter and (2) the presence of ganglion cells and normal acetylcholinesterase (AChE) activity in the rectal suction biopsy as proposed by Doodnath and Puri. However, one should cautiously make the diagnosis of the disease considering technical aspects of anorectal manometry with anatomical investigations on the terminal rectum. Only when one could not demonstrate rectosphincteric reflex in a relaxed or sedated child with ample distention of the rectum by a balloon, and only when no nerve fibers with increased AChE activity are observed in the lamina propria with the presence of ganglion cells in the rectal mucosal biopsy, the disease of IASA can be diagnosed. One should also recognize that the entity may contain several unclarified pathogeneses of this condition and that very few cases are reported in a large cohort of patients with Hirschsprung’s disease and allied disorders in Japan.

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Authors and Affiliations

  1. Department of Pediatric Surgery, Tokai University School of Medicine, Isehara, Kanagawa, Japan

    Shigeru Ueno

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  1. Shigeru Ueno
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Correspondence to Shigeru Ueno .

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Editors and Affiliations

  1. Department of Pediatric Surgery, Kyushu University, Fukuoka, Fukuoka, Japan

    Tomoaki Taguchi

  2. Department of Pediatric Surgery, St. Luke’s International Hospital, Chuo-Ku, Tokyo, Japan

    Hiroshi Matsufuji

  3. Department of Pediatric Surgery, Kagoshima University, Kagoshima, Kagoshima, Japan

    Satoshi Ieiri

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Ueno, S. (2019). Internal Anal Sphincter Achalasia (IASA). In: Taguchi, T., Matsufuji, H., Ieiri, S. (eds) Hirschsprung’s Disease and the Allied Disorders. Springer, Singapore. https://doi.org/10.1007/978-981-13-3606-5_41

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  • DOI: https://doi.org/10.1007/978-981-13-3606-5_41

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