The Association Between Prune Belly Syndrome and Dental Anomalies

A Case Report

Maria Daniela Basso; Carla Oliveira Favretto; Robson Frederico Cunha

Disclosures

BMC Oral Health. 2012;12(56) 

In This Article

Background

Prune belly syndrome (PBS), described for the first time in the 1800s,[1] is a rare condition defined by the triad of abdominal muscle deficiency, severe urinary tract abnormality, and cryptorchidism.[2–4] It is caused by urethral obstruction early in development and is the result of massive bladder distention and urinary ascites, leading to degeneration of the abdominal wall musculature and failure of testicular descent. The impaired elimination of urine from the bladder leads to oligohydramnios, pulmonary hypoplasia, and Potter's facies.[5] The name PBS originated from the wizened, dried-plum appearance of the child.[2–4] Patients with this syndrome also may have congenital cardiac, pulmonary, musculoskeletal, and gastrointestinal anomalies.[6,7] In addition, associations with cleft lip,[3] Down syndrome,[2] and trisomy of 18[8] and 13[9] have been reported.

This syndrome occurs in 1 of 35.000–50.000 live births and most cases (up to 95%) are in males.[6] In another report, the incidence of PBS was 3.8 cases/100,000 live births.[10] Despite advances in care for children with PBS, this condition continues to be associated with high perinatal mortality, which is likely related to the associated prematurity, pulmonary complications,[10] and urinary tract malformations.[5]

The exact etiology of the generalized disturbance is unknown.[4] According to Straub and Spranger,[4] the various manifestations of PBS are produced by an early mesodermal defect. An association was reported between PBS and ectrodactyly-ectodermal dysplasia-clefting,[11] which is a rare, autosomal dominant syndrome that is phenotypically characterized by specific abnormalities of the hands, feet, and orofacial region coexisting with ectodermal dysplasia features.[12]

Kabakus et al.[13] found other abnormalities associated with PBS that support the concept that PBS is caused by an early disturbance of other germ layers as well as mesodermal development. Given these findings, extra-abdominal abnormalities resulting from disturbances of ectodermal and endodermal development should be evaluated in all cases. Although disturbances related to ectodermal and endodermal development may be asymptomatic, an early diagnosis of these disturbances may help to prevent possible future problems.[13]

The hypothesis that there may be a combination of PBS to oral problems has been raised. An association was found between this syndrome and isolated gingival fibromatosis and facial dysmorphism.[14]

Other reports have shown that congenital kidney and urinary tract anomalies can cause serious renal function problems in the patient, which occasionally progress to chronic renal failure (CRF) and end-stage renal failure (ESRF).[15] Thus, the patient develops metabolic disorders, such as hyperparathyroidism resulted from CRF or ESFR, which cause secondary oral manifestations.[16]

Enamel hypoplasia with generalized hypocalcemic dental lines, demineralization of the trabecular bone of the jaw, loss of the lamina dura, and discontinuity of the mandibular cortical bone were cited as secondary to CRF and hyperparathyroidism.[16] Petechiae, ecchymoses, uremic stomatitis, gingivitis, periodontitis, enamel hypoplasia, and dental pulp obliterations were related to CRF, ESRF, and renal replacement therapy.[17–19] Furthermore, excessive calculus deposits were related to ESRF.[15]

This is the first report of a patient with PBS associated with dental anomalies. Given that PBS is a rare disease for which the oral and dental aspects are seldom described in the literature, the goal of the present case report is to contribute to a better understanding of this syndrome.

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