Ann Surg Treat Res.  2016 Jan;90(1):49-52. 10.4174/astr.2016.90.1.49.

Currarino triad with Mullerian duct anomaly in mother and daughter without MNX1 gene mutation

• Kim SH
• Paek SH
• Kim HY
• Jung SE
• Park KW

• KMID: 2149932
• DOI: http://doi.org/10.4174/astr.2016.90.1.49

Abstract

The Currarino triad is a unique complex of congenital caudal anomalies, including anorectal malformation, sacral bony defect and presacral mass. This triad may be associated with Mullerian duct anomalies, such as duplication of the vagina and uterus. Each of these diseases has a familial tendency and sometimes coexist within families. But, when coexisting in familial cases, nearly all reported cases revealed mutations of the motor neuron and pancreas homeobox 1 (MNX1) gene. Familial cases of Currarino triad combined with Mullerian duct anomaly without MNX1 gene mutation are very rare. Here we report cases of mother and daughter, who had Currarino triad and Mullerian duct anomaly without MNX1 gene mutation, along with a brief literature review.

Keyword

Currarino triad; Mullerian ducts; Familial case; MNX1 gene

MeSH Terms

Genes, Homeobox
Humans
Mothers*
Motor Neurons
Mullerian Ducts
Nuclear Family*
Pancreas
Uterus
Vagina

Figure

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  Fig. 1 (A) Colon study findings showed dilated sigmoid colon (arrowheads) and severe rectal stenosis (arrow). (B) CT myelogram finding revealed anterior meningocele (arrowheads) with bony defect in lower sacrum (arrow). Adapted from Park KW, et al. J Korean Surg Soc 1986; 31:783-8 [4].

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  Fig. 2 Preoperative colon study revealed severely dilated sigmoid colon (arrowheads) and rectal stenosis (arrow).

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  Fig. 3 Pelvic MRI: (A) Sagittal view revealed lobulating fatty mass in the presacral area (arrow), (B) Coronal view revealed sacral bony defect (arrow), (C) Transverse view revealed double vagina, a subtype of Müllerian duct didelphism (arrow).

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  Fig. 4 Distal loopogram imaging showed suspicious transitional zone (arrows).

Reference

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