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 chronic large bowel ileus. During proctocolectomy a rectorectal cyst was found and removed. The cyst was pathologically characterized as duplication of the rectum. Immunhistochemistry of the bowel revealed Hirschsprung's disease. Due to postoperative cephalgia and lumbodynia the patient was transmitted to our department. The right patellar tendon jerk was diminished, he suffered from lumbar pain, and MRI revealed an anterior sacral meningocelis that might have been affected by surgery and a tethered cord (Figure: anterior sacral meningocelis and tethered cord in MRI). Direct sequencing of genomic DNA revealed heterozygosity for the novel frame-shift mutation c.336insG in the homeobox HLXB9 gene predicting a truncated protein of 113 amino acids. Diagnosis of CS was made. A sister, a brother and three of his brother's children have similar symptoms, but the two adults decided not to be investigated.

Discussion: This case report suggests that further radiological imaging and molecular diagnostics may be helpful in cases of Hirschsprung's disease accompanied by other symptoms suggestive for CS, since CS can lead to major complications like sepsis, meningitis, and malignant transformation. Moreover, diagnosis of CS is an important information concerning surgery, since CS is associated with neural tube defects and presacral masses.