The prune belly syndrome: report of a rare case and review of literature

Abstract

The prune belly syndrome (PBS) is a rare birth disorder characterized by three major findings: a variable aplasia of the abdominal wall, urinary tract malformations, and cryptorchidism [1–3]. The syndrome was first described by Frolich in 1839 [1], but it was not until 1901 that the condition was named by Osler [2]. The syndrome got its descriptive name due to the wrinkled abdominal skin (the intestinal pattern is evident through the thin, lax abdominal wall) that resembles a dried prune. Synonyms are the Eagle–Barrett syndrome, the Obrinsky syndrome, and the triad syndrome [4–6]. The disease occurs in 1:40,000 to 1:30,000 live births and only 50% of the infants survive their second birthday [7, 8]. Approximately 97% of the prune belly patients are males, and remarkably 4% of all the cases are twin pregnancies [8–10]. The etiology is still a point of debate, but there is a strong belief that the disease has a sex-linked autosomal recessive inheritance due to the male preponderance of PBS [10, 11]. When the syndrome is expressed in females, it is called the pseudo-prune belly syndrome [9]. An association with trisomy 18 and 21 has been described [12]. In 1903, in making an attempt to explain the pathophysiology, Stumme [3] suggested an in utero obstruction of the urinary tract causing a dilatation of the bladder and, secondary to this situation, a pressure atrophy of the abdominal muscles. Although very plausible, his theory was countered by histopathological investigation of the abdominal wall which revealed that there was no atrophy but rather a developmental arrest of the muscle. A more recent theory is that of a mesenchymal development arrest between the sixth to tenth week of gestation [6, 13]. This could also explain the involvement of the genitourinary tract and testis. Histopathological findings confirm that there is a mesodermal differentiation problem (abundance of collagen, fibrous, and connective tissues, rare presence of smooth muscles throughout the urinary tract) rather than one of obstruction. In the past, the treatment of PBS was almost exclusively focused on the urinary tract problems and the cryptorchidism [6, 14, 15]. The abdominal problems were of less importance and solved by the use of bandages and corsets. More recently, in cooperation with the pediatric urologist, the plastic surgeon performs abdominal wall reconstructions for both cosmetic/psychosocial and functional reasons [16–21]. The techniques used for these reconstructions can be divided into two major groups: the plication technique and the muscle transposition technique. The plication technique was first used by Duckett [18] in 1976 in order to improve the cosmetic and psychosocial situation of the patient. In 1981, Randolph [16] described an excision of the lower part of the abdominal wall in patients with remnants of muscle in the upper and lateral abdominal wall. This procedure, however, led to lateral bulging in most of the cases. Ehrlich [17] (1986) performed a more extensive technique: through a midline incision, he constructed a double musculo-fascial layer, using the hypoplastic remnants of the abdominal wall. Afterward, the redundant skin was excised. Montfort [18] modified this K. Verdonck (*) :G. Van Eeckhout : P. Wylock Department of Plastic, Reconstructive and Aesthetic Surgery, Universitair Ziekenhuis Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium e-mail: kristoffverdonck@hotmail.com