Abstract
BackgroundHereditary polyglucosan inclusion body myopathy of the internal anal sphincter is a rare cause of proctalgia fugax and constipation. Treatment options are explored.Case presentationA 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.ConclusionsHereditary 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.
Highlights
Hereditary polyglucosan inclusion body myopathy of the internal anal sphincter is a rare cause of proctalgia fugax and constipation
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
We present a further case of proctalgia and constipation due to a hypertrophic internal anal sphincter (IAS) whose histology was consistent with polyglucosan inclusion body myopathy
Summary
Our experience and the available literature on this rare inherited hypertrophic polyglucosan body IAS myopathy resulting in proctalgia fugax and outlet obstruction, show that calcium channel antagonists can be considered in the medical management of proctalgia symptoms. RM cared for the patient, performed one of the investigations, provided the relevant image, and helped to draft the manuscript. MPP cared for the patient, performed one of the investigations, provided the relevant image, and helped to draft the manuscript. RJD cared for the patient, obtained consent for the publication of the case report from the patient, helped to draft the manuscript, and amended it to its final version. Hereditary Internal Anal Sphincter Myopathy Causing Proctalgia Fugax and Constipation. Internal anal sphincter myopathy causing proctalgia fugax and constipation: further clinical and radiological characterisation in a patient. Hereditary internal anal sphincter myopathy causing proctalgia fugax and constipation: further clinical and histological characterisation in a patient. Imaging of Hereditary Internal Anal Sphincter Myopathy. Hereditary vacuolar internal anal sphincter myopathy causing proctalgia fugax and constipation: a new case contribution. Author details 1Cambridge Colorectal Unit, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge CB2 0QQ, UK. 2Department of Pathology, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge CB2 0QQ, UK
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
