Prune‐belly syndrome and pulmonary hypoplasia: A potential cause of death

Abstract

Prune-belly syndrome (PBS) is a rare and complicated condition affecting mainly the abdominal wall and the genitourinary system. 1 In addition, respiratory, cardiovascular, gastrointestinal and orthopedic anomalies may accompany PBS. 2 Early recognition and treatment of PBS may prevent serious complications that may lead to fatalities. Herein, we report on a typical case of PBS in an infant, with a complex of genitourinary, respiratory, orthopedic and gastrointestinal anomalies, who died due to respiratory failure following a common respiratory infection. Case ReportA 4-month-old male infant presented to Turgut Ozal Medical Center, Clinic of Pediatrics, with fever, cough and respiratory difficulty. The complaints were noticed 8 days before admission and they gradually increased despite antibacterial treatment and oxygen support.He was delivered at full term and after an uncomplicated pregnancy. Due to the low socioeconomic status of the parents, the patient had no pre-or postnatal medical follow up. However, relative oligohydramnios was noted by an obstetrician in the delivery room.On physical examination, the child was febrile with a poor general condition. His pulse rate was 148 /min and his respiratory rate was 54 breaths/min with peripheral saturation of O 2 at 88% on 8 L/min of facemask oxygen. In addition to his dyspneic and grunting respiration, intercostal, supra-and substernal retractions were noted. Cracking rales were heard in both lungs. Kyphoscoliosis, abdominal distention and easily notable bowel loops secondary to a lack of abdominal wall muscles were determined. An enlarged liver, non-palpable testis and a right clubfoot deformity were determined. The body percentiles were within the normal ranges.Initial investigations were as follows: hemoglobin 9.9 g/dL, leukocyte count 27 200 /mm 3 (82% polymorphonuclear leukocytes, 12% band forms and 8% lymphocytes), erythrocyte sedimentation rate 60 mm/h, blood urea nitrogen (BUN) 10 mg/dL and serum creatinine 0.4 mg/dL. Liver function tests, serum total protein, albumin and electrolytes were within the normal ranges. Echocardiography and electrocardiography were also interpreted as normal. Although >10 5 /mm 3 Proteus vulgaris was grown in culture, microscopic examination of the urine was normal. Blood gas analysis upon admission revealed pH 7.32, PO 2 76 mmHg, PCO 2 45 mmHg and HCO 3 26 mmol/L.Plain chest X-ray showed thoracolumbal scoliosis, decreased right lung volume and ipsilateral displacement of the heart, an elevated right diaphragm, a compensatory increase of left lung volume, protruding liver secondary to an absence of abdominal wall muscles, dilated intestines and a consolidation from the middle lobe to the basal area on the right lung (Fig. 1). The computed chest tomography (CT) showed right lung hypoplasia, shifting of the trachea, mediastinal structures and the heart to the right hemithorax, a pneumonic parenchymal infiltration with air bronchograms on the hypoplastic lung and a compensatory expansion of the opposite lung ( Fig. 2a,b).Abdomina...

Prune-belly syndrome: an autopsy case report

“…Among the females, genital anomalies may also be present, such as vaginal atresia, bicornuate uterus, and urogenital sinus,9 and the syndrome is typically more severe due to a higher incidence of urethral atresia 10. The association with pulmonary malformations occurs in 58% of cases, which are mainly represented by pulmonary hypoplasia.…”

Pictorial essay: Congenital anomalies of male urethra in children

“…[25–27] The posterior urethra is typically dilated, high-placed, and tapered distally; the appearance may mimic a posterior urethral valve [Figure 19A–C]. …”

Prune Belly Syndrome

“…Potential benefits of relieving urinary tract obstruction in the antenatal period include improved growth, improved pulmonary development, improved renal and bladder function, and fetal survival. 18 17 Vesicoamniotic shunting, with percutaneous placed catheters, is useful in some lower urinary tract obstructions such as those that occur with prune belly syndrome.…”