Hirschsprung's disease accompanied by cephalgia and lumbodynia: an adult index patient with Currarino syndrome due to the novel mutation HLXB9 c.336insG

Aims: The symptom triad of autosomal dominant Currarino syndrom (CS) consists of anorectal malformation, a sacral bony defect and presacral masses. 50% of CS patients present with dysganglionoses like Hirschsprung's disease. Most patients are diagnosed during their first decade of life. Case report: We report a twenty-eight year old male patient of Italian ancestry with a preternatural anus after proctocolectomy four weeks before being admitted to our department. Surgery was done due to chronic progressive obstipation and fecal incontinence as consequences of a megacolon with progressive abdominal distension and…