Imaging Sci Dent.  2015 Sep;45(3):181-185. 10.5624/isd.2015.45.3.181.

Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report

• Bhesania D
• Arora A
• Kapoor S

• KMID: 2045026
• DOI: http://doi.org/10.5624/isd.2015.45.3.181

Abstract

Numerous cases of enamel renal syndrome have been previously reported. Various terms, such as enamel renal syndrome, amelogenesis imperfecta and gingival fibromatosis syndrome, and enamel-renal-gingival syndrome, have been used for patients presenting with the dental phenotype characteristic of this condition, nephrocalcinosis or nephrolithiasis, and gingival findings. This report describes a case of amelogenesis imperfecta of the enamel agenesis variety with nephrolithiasis in a 21-year-old male patient who complained of small teeth. The imaging modalities employed were conventional radiography, cone-beam computed tomography, and renal sonography. Such cases are first encountered by dentists, as other organ or metabolic diseases are generally hidden. Hence, cases of amelogenesis imperfecta should be subjected to advanced diagnostic modalities, incorporating both dental and medical criteria, in order to facilitate comprehensive long-term management.

Keyword

Amelogenesis Imperfecta; Cone-Beam Computed Tomography; Dental Enamel; Kidney Disease

MeSH Terms

Amelogenesis Imperfecta*
Amelogenesis*
Cone-Beam Computed Tomography
Dental Enamel Hypoplasia
Dental Enamel*
Dentists
Fibromatosis, Gingival
Humans
Kidney Diseases
Male
Metabolic Diseases
Nephrocalcinosis
Nephrolithiasis*
Phenotype
Radiography
Tooth
Young Adult

Figure

• 

  Fig. 1 A. A frontal view shows pigmented gingiva, the absence of enamel with spacing between the teeth, and a semi-lunar appearance of the maxillary central incisors. A right lateral view (B), left lateral view (C), and maxillary and mandibular occlusal views (D and E) show the presence of decayed teeth, molars with a flat occlusal surface, multiple deciduous teeth, and multiple missing permanent teeth. F. An extraoral photograph shows the evidence of wear of anterior teeth.

• 

  Fig. 2 A. A panoramic radiograph shows pulpal calcifications in most of the teeth (short black arrow), impacted teeth (short white arrows), pericoronal radiolucencies with a sclerotic border (long white arrows), and complete root formation with curvatures (long black arrows). B. A cone-beam CT (CBCT) sagittal image shows uniform radiodensity in the crown (long white arrow) of the dental follicle (long white arrow). C. A CBCT coronal image shows crown resorption (white arrows). D. A CBCT volume-rendered image of the right side of the mandible shows an accessory mental foramen. E. A CBCT volume-rendered image of the left side of the maxilla shows severe bone loss.

• 

  Fig. 3 A. A photomicrograph of a ground section shows the absence of enamel and scalloping of the dentinoenamel junction (black arrows). B. A photomicrograph of the pulpal tissue shows connective tissue with numerous basophilic calcifications (H&E stain, 40×). C. A photomicrograph of the gingival tissue shows parakeratinised epithelium and dense collagen bundles in the lamina propria with fibroblasts and blood vessels (H&E stain, 40×).

• 

  Fig. 4 A and B. Ultrasound images of the left and right kidneys, respectively, show multiple calcified deposits (white arrows).

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