Proctalgia and constipation secondary to hypertrophic polyglucosan inclusion body myopathy of the internal anal sphincter: a case report
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 constipat...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2018-10-01
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| Series: | Journal of Medical Case Reports |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13256-018-1856-z |
| _version_ | 1819211581729275904 |
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| author | Ioanna G Panagiotopoulou Richard Miller Michael P Powar James Y H Chan R Justin Davies |
| author_facet | Ioanna G Panagiotopoulou Richard Miller Michael P Powar James Y H Chan R Justin Davies |
| author_sort | Ioanna G Panagiotopoulou |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-23T06:29:21Z |
| format | Article |
| id | doaj.art-82b3efceafb5498da1e587cf835bac74 |
| institution | Directory Open Access Journal |
| issn | 1752-1947 |
| language | English |
| last_indexed | 2024-12-23T06:29:21Z |
| publishDate | 2018-10-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj.art-82b3efceafb5498da1e587cf835bac742022-12-21T17:56:59ZengBMCJournal of Medical Case Reports1752-19472018-10-011211410.1186/s13256-018-1856-zProctalgia and constipation secondary to hypertrophic polyglucosan inclusion body myopathy of the internal anal sphincter: a case reportIoanna G Panagiotopoulou0Richard Miller1Michael P Powar2James Y H Chan3R Justin Davies4Cambridge Colorectal Unit, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation TrustCambridge Colorectal Unit, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation TrustCambridge Colorectal Unit, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation TrustDepartment of Pathology, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation TrustCambridge Colorectal Unit, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation TrustAbstract 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.http://link.springer.com/article/10.1186/s13256-018-1856-zProctalgiaHereditary internal anal sphincter myopathyPolyglucosan inclusion bodies |
| spellingShingle | Ioanna G Panagiotopoulou Richard Miller Michael P Powar James Y H Chan R Justin Davies Proctalgia and constipation secondary to hypertrophic polyglucosan inclusion body myopathy of the internal anal sphincter: a case report Journal of Medical Case Reports Proctalgia Hereditary internal anal sphincter myopathy Polyglucosan inclusion bodies |
| title | Proctalgia and constipation secondary to hypertrophic polyglucosan inclusion body myopathy of the internal anal sphincter: a case report |
| title_full | Proctalgia and constipation secondary to hypertrophic polyglucosan inclusion body myopathy of the internal anal sphincter: a case report |
| title_fullStr | Proctalgia and constipation secondary to hypertrophic polyglucosan inclusion body myopathy of the internal anal sphincter: a case report |
| title_full_unstemmed | Proctalgia and constipation secondary to hypertrophic polyglucosan inclusion body myopathy of the internal anal sphincter: a case report |
| title_short | Proctalgia and constipation secondary to hypertrophic polyglucosan inclusion body myopathy of the internal anal sphincter: a case report |
| title_sort | proctalgia and constipation secondary to hypertrophic polyglucosan inclusion body myopathy of the internal anal sphincter a case report |
| topic | Proctalgia Hereditary internal anal sphincter myopathy Polyglucosan inclusion bodies |
| url | http://link.springer.com/article/10.1186/s13256-018-1856-z |
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