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Proctalgia and constipation secondary to hypertrophic polyglucosan inclusion body myopathy of the internal anal sphincter: a case report.
J Med Case Rep 2018; 12(1):315JM

Abstract

BACKGROUND

Hereditary polyglucosan inclusion body myopathy of the internal anal sphincter is a rare cause of proctalgia fugax and constipation. Treatment options are explored.

CASE PRESENTATION

A 61 year-old Caucasian woman presented with an 18-year history of severe anal pain and constipation. She had no response to medical treatment which included amitriptyline and topically administered diltiazem. Endoscopy revealed no abnormalities, whereas endoanal ultrasound showed an abnormally thick internal anal sphincter (> 5 mm) and anal manometry showed intermittent episodes of very high resting pressures in excess of 200 mmHg that resolved spontaneously after 2 minutes. She had no relief of her symptoms after receiving an injection of botulinum toxin to the internal anal sphincter. She subsequently underwent a lateral internal anal sphincterotomy which led to complete resolution of her symptoms.

CONCLUSIONS

Hereditary polyglucosan inclusion body myopathy of the internal anal sphincter should be considered in the differential diagnosis of a patient presenting with severe anal pain and constipation in the absence of an anal fissure or sepsis. If medical therapy with calcium antagonists fails to provide symptom relief, lateral internal sphincterotomy should be considered rather than botulinum toxin injection.

Authors+Show Affiliations

Cambridge Colorectal Unit, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK. yianna@doctors.org.uk.Cambridge Colorectal Unit, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK.Cambridge Colorectal Unit, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK.Department of Pathology, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK.Cambridge Colorectal Unit, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

30352617

Citation

Panagiotopoulou, Ioanna G., et al. "Proctalgia and Constipation Secondary to Hypertrophic Polyglucosan Inclusion Body Myopathy of the Internal Anal Sphincter: a Case Report." Journal of Medical Case Reports, vol. 12, no. 1, 2018, p. 315.
Panagiotopoulou IG, Miller R, Powar MP, et al. Proctalgia and constipation secondary to hypertrophic polyglucosan inclusion body myopathy of the internal anal sphincter: a case report. J Med Case Rep. 2018;12(1):315.
Panagiotopoulou, I. G., Miller, R., Powar, M. P., Chan, J. Y. H., & Davies, R. J. (2018). Proctalgia and constipation secondary to hypertrophic polyglucosan inclusion body myopathy of the internal anal sphincter: a case report. Journal of Medical Case Reports, 12(1), p. 315. doi:10.1186/s13256-018-1856-z.
Panagiotopoulou IG, et al. Proctalgia and Constipation Secondary to Hypertrophic Polyglucosan Inclusion Body Myopathy of the Internal Anal Sphincter: a Case Report. J Med Case Rep. 2018 Oct 24;12(1):315. PubMed PMID: 30352617.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Proctalgia and constipation secondary to hypertrophic polyglucosan inclusion body myopathy of the internal anal sphincter: a case report. AU - Panagiotopoulou,Ioanna G, AU - Miller,Richard, AU - Powar,Michael P, AU - Chan,James Y H, AU - Davies,R Justin, Y1 - 2018/10/24/ PY - 2018/01/17/received PY - 2018/09/24/accepted PY - 2018/10/25/entrez PY - 2018/10/26/pubmed PY - 2019/3/1/medline KW - Hereditary internal anal sphincter myopathy KW - Polyglucosan inclusion bodies KW - Proctalgia SP - 315 EP - 315 JF - Journal of medical case reports JO - J Med Case Rep VL - 12 IS - 1 N2 - BACKGROUND: Hereditary polyglucosan inclusion body myopathy of the internal anal sphincter is a rare cause of proctalgia fugax and constipation. Treatment options are explored. CASE PRESENTATION: A 61 year-old Caucasian woman presented with an 18-year history of severe anal pain and constipation. She had no response to medical treatment which included amitriptyline and topically administered diltiazem. Endoscopy revealed no abnormalities, whereas endoanal ultrasound showed an abnormally thick internal anal sphincter (> 5 mm) and anal manometry showed intermittent episodes of very high resting pressures in excess of 200 mmHg that resolved spontaneously after 2 minutes. She had no relief of her symptoms after receiving an injection of botulinum toxin to the internal anal sphincter. She subsequently underwent a lateral internal anal sphincterotomy which led to complete resolution of her symptoms. CONCLUSIONS: Hereditary polyglucosan inclusion body myopathy of the internal anal sphincter should be considered in the differential diagnosis of a patient presenting with severe anal pain and constipation in the absence of an anal fissure or sepsis. If medical therapy with calcium antagonists fails to provide symptom relief, lateral internal sphincterotomy should be considered rather than botulinum toxin injection. SN - 1752-1947 UR - https://www.unboundmedicine.com/medline/citation/30352617/Proctalgia_and_constipation_secondary_to_hypertrophic_polyglucosan_inclusion_body_myopathy_of_the_internal_anal_sphincter:_a_case_report L2 - https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-018-1856-z DB - PRIME DP - Unbound Medicine ER -