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Posterior Talo-calcaneal Facet Coalition
Joseph Junewick, MD FACR
over 9 years ago
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Case History

6 year old male with constipation

Case Detail

Anatomy: Brain-Spine
Joseph Junewick, MD FACR
Diagnostic Category: Developmental or Congenital
Created: over 2 years ago
Updated: over 2 years ago
Tags: Pets
Modality/Study Types: XR MR
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Reveal Findings

CR – Deficienct distal right hemisacrum.

MR – Cystic pre sacral mass displacing the rectum anteriorly.

Reveal Discussion

In 1838, Bryant described a case of deficiency of the anterior sacrum with a thecal sac in the pelvis, similar to the tumour of spina bifida. In 1981, Currarino noted a triad of anorectal stenosis, sacral agenesis and presacral mass (anterior meningocele, enteric cyst or teratoma). In 1983 Yates reported a familial tendency of this association. Subsequently, this autosomal dominant sacral dysgenesis was linked to the homeobox gene mutation (HLXB9) on the long arm of chromosome 7 – all patients with familial and 30% of sporadic cases show this mutation. The function of HLXB9 is not known but probably a transcription factor. Currarino hypothesized that an adhesion between the endoderm and ectoderm results in a notochord split and sacral deformity and neuro-enteric persistence. All patients have a normal S1 and abnormal S2-S5 (scimitar -75%, bifid with central defect -22% or pepper pot sacrum and coccygeal defect -<3%. All 1st degree relatives should undergo sacrum radiography; if XR is abnormal MR of the lumbosacral spine and pelvis should be performed.

Reveal Diagnosis

Currarino syndrome

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