About as complex as it gets—that’s how pediatric urologist Andrew Freedman, M.D., director of pediatric urology at Cedars-Sinai Medical Center’s Endourology Institute, describes the surgery he performed this summer on then 17- month-old Jalen Brown, born with Prune Belly Syndrome. That surgery required reconstructing the toddler’s urinary system in a nearly 10-hour procedure.
Prune Belly Syndrome, also known as Eagle-Barrett Syndrome, is a very rare occurrence: just one in 80,000 births. An estimated 99 percent of those affected are boys. The cause is still unknown, though some theories suggest urinary tract obstructions and resulting distention or developmental defects in utero.
Like Jalen, most born with Prune Belly Syndrome exhibit three main features: 1) an absence of abdominal muscles, contributing to a “wrinkled” appearance of the skin and a “pot belly” profile, 2) dilated urinary tract and associated problems, and 3) intra-abdominal (undescended) testicles.
These trademark characteristics are typically discovered either prenatally via ultrasound or at birth. Associated medical problems—primarily related to renal function—can be life-threatening. “We weren’t sure he was going to make it,” says Dr. Freedman, citing concerns at birth. For Jalen—and most others with the syndrome—survival depends on medical intervention.
An estimated 20 percent of those affected are stillborn, while another 30 percent die within their first two years. The remaining 50 percent suffer from urinary system disorders of varying severity. Another 10 percent face serious cardiovascular problems such as atrial or septal defects. Musculoskeletal problems afflict 20 percent to 50 percent, including hip dislocation, scoliosis and clubfoot, which Jalen was born with and had surgically corrected.
Jalen’s health issues were diagnosed prenatally when an ultrasound at six months picked up problems. “The ultrasound test was taking so long because they were waiting on the baby to pee,” says Laura, also mom to older sister Jasmine, 6. “The next day I got a call saying I needed to see a perinatalogist. I went through a couple of doctors before the problem was officially diagnosed at Cedars-Sinai, where the urologist said it was probably Prune Belly Syndrome.” When she found out, Laura was actually relieved after worrying about even worse conditions. “There was hope,” she explains.
Jalen’s first surgery, performed by Dr. Freedman when the baby was five days old, was a temporary, initial remedy to his renal problems. The surgeon removed obstructions in the left and right ureters and attached them to the skin just below the rib cage. He spent about a month in the hospital, much of that time under the watchful eye of Neonatal Intensive Care Unit staff.
“Urine would drain into his diapers,” explains mom Laura. “Jalen had to wear big diapers to cover the openings, and we had to change them like clockwork. He couldn’t even have a bath.” But the baby rebounded. Despite prenatal concerns about left kidney function, both of Jalen’s kidneys proved to be working at 100 percent.
In June 2002, Jalen underwent the much-anticipated second phase of surgery, scheduled to coincide with the baby’s growth in size and strength.
“When Jalen was about one, we started looking forward to the surgery—he was healthy enough and it would be time for him to walk soon,” says Laura. And walking he is, following the intricate procedure that required Dr. Freedman to reconstruct and reattach the left ureter to the kidney, join the left and right ureters, and then plug the right into the bladder. At the same time, he performed an abdominoplasty to tighten the abdomen and remove loose skin. He also repositioned the testicles.
“Jalen’s in pretty good shape now,” says Dr. Freedman. “He may never be a sit-up champion, but he’ll be able to ride a bike and play Little League.” And that’s enough for Jalen’s family, who are already seeing the fruits of Dr. Freeman’s labors.
After the surgery, Jalen was able to urinate normally, through his penis, for the first time. “It was a beautiful thing,” says his mother of the experience.
Though Jalen’s prognosis is positive, the extent of kidney damage sustained in utero or as a result of infection is unknown. “We’ll see how many nephrons God gave him,” says Dr. Freedman, alluding to the tiny structures within the kidney that control blood composition and renal function. v For now, Jalen wears a “binder” for support, since he lacks abdominal muscles on the right side. When he’s a teen, Jalen can consider other, cosmetic options. “But that’s his decision,” says his mom. “Right now, we just feel very lucky.”
Cedars-Sinai is one of the largest nonprofit academic medical centers in the Western United States. For the fifth straight two-year period, Cedars-Sinai has been named Southern Californias gold standard in health care in an independent survey. It is internationally renowned for its diagnostic and treatment capabilities and its broad spectrum of programs and services, as well as breakthrough biomedical research and superlative medical education. Named one of the 100 "Most Wired" hospitals in health care in 2001, the Medical Center ranks among the top 10 non-university hospitals in the nation for its research activities.
Sandy Van | Cedars-Sinai Public Relations
Study suggests possible new target for treating and preventing Alzheimer's
02.12.2016 | Oregon Health & Science University
The first analysis of Ewing's sarcoma methyloma opens doors to new treatments
01.12.2016 | IDIBELL-Bellvitge Biomedical Research Institute
A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.
Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...
In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.
“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...
The Max Planck Institute for Physics (MPP) is opening up a new research field. A workshop from November 21 - 22, 2016 will mark the start of activities for an innovative axion experiment. Axions are still only purely hypothetical particles. Their detection could solve two fundamental problems in particle physics: What dark matter consists of and why it has not yet been possible to directly observe a CP violation for the strong interaction.
The “MADMAX” project is the MPP’s commitment to axion research. Axions are so far only a theoretical prediction and are difficult to detect: on the one hand,...
Broadband rotational spectroscopy unravels structural reshaping of isolated molecules in the gas phase to accommodate water
In two recent publications in the Journal of Chemical Physics and in the Journal of Physical Chemistry Letters, researchers around Melanie Schnell from the Max...
The efficiency of power electronic systems is not solely dependent on electrical efficiency but also on weight, for example, in mobile systems. When the weight of relevant components and devices in airplanes, for instance, is reduced, fuel savings can be achieved and correspondingly greenhouse gas emissions decreased. New materials and components based on gallium nitride (GaN) can help to reduce weight and increase the efficiency. With these new materials, power electronic switches can be operated at higher switching frequency, resulting in higher power density and lower material costs.
Researchers at the Fraunhofer Institute for Solar Energy Systems ISE together with partners have investigated how these materials can be used to make power...
16.11.2016 | Event News
01.11.2016 | Event News
14.10.2016 | Event News
02.12.2016 | Medical Engineering
02.12.2016 | Agricultural and Forestry Science
02.12.2016 | Physics and Astronomy