Ann Pediatr Endocrinol Metab.  2019 Sep;24(3):207-211. 10.6065/apem.2019.24.3.207.

Long-term follow-up on MURCS (Müllerian duct, renal, cervical somite dysplasia) association and a review of the literature

• Kim S
• Lee YS
• Kim DH
• Yang A
• Lee T
• Hwang SD
• Kwon DG
• Lee JE

• KMID: 2460770
• DOI: http://doi.org/10.6065/apem.2019.24.3.207

Abstract

Müllerian duct aplasia-renal aplasia-cervicothoracic somite dysplasia (MURCS) association is a unique development disorder with four common types of malformations that include uterine aplasia or hypoplasia, renal ectopy or agenesis, vertebral anomalies, and short stature. The majority of MURCS patients are diagnosed with primary amenorrhea from late-adolescence. However, a few cases with MURCS association are not well diagnosed during childhood and long-term outcomes are not well reported. We report a case of an 8-year-old girl with MURCS association who presented with recurrent urinary tract infections and multiple congenital malformations, and who was followed for 10 years until adulthood. MURCS association should be considered as one of the differential diagnoses when evaluating prepubertal females with vertebral and renal malformations.

Keyword

Mullerian aplasia; Müllerian duct aplasia-renal aplasia-cervicothoracic somite dysplasia association; Mayer Rokitansky-Küster-Hauser anomaly; Child

MeSH Terms

Amenorrhea
Child
Diagnosis, Differential
Female
Follow-Up Studies*
Humans
Somites*
Urinary Tract Infections

Figure

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  Fig. 1. Image showing external ear atresia (A), short neck and facial asymmetry (B).

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  Fig. 2. X-ray C-spine showed a bony fusion on C2-3, C4 vertebrae (arrow) (A) and scoliosis of L-spine (arrowhead) (B).

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  Fig. 3. Abdominal computed tomography showed a single dysplastic kidney (arrow) (A) and uterine aplasia (arrowhead) (B).

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  Fig. 4. Estimated glomerular filtration rate (eGFR) of our patient. It declines gradually during follow-up period.

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  Fig. 5. Growth curve of our patient. It shows extreme short stature with significant catch-down growth during follow-up period.

Reference

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