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Updated: Aug 19, 2026

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
Published on: April 26, 2019
Hereditary vacuolar internal anal sphincter myopathy causing proctalgia fugax and constipation: a new case
Fernando de la Portilla1, Juan José Borrero, Enrique Rafel
1Coloproctology Unit, Department of General Surgery, Hospital Juan Ramón Jiménez, Huelva, Spain. delaportilla@ya.com
Abstract:
Hereditary anal sphincter myopathy is rare. We present a family with one affected member with proctalgia fugax, constipation and internal anal sphincter hypertrophy. Ultrastructural findings show vacuolization of smooth muscle cells without the characteristic polyglucosan inclusion. Further relief of symptoms was obtained using an oral calcium antagonist. Based on clinical presentation, endosonography and morphological findings, we consider our case is a histological variant of the vacuolar myopathy originally described.
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