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Category Archives: Congenital Anomalies

Resourcefulness in Saving Babies’ Lives

In rural places where sophisticated technology, medicine are scarce if not available, how do physicians like me deal with a baby with a life threatening medical condition — congenital adrenal hyperplasia?

In my place of practice, with about 250 thousand population as of the latest, there is 1 government tertiary (pediatric residency training) hospital and 3 private hospitals (but one pediatric residency training hospital) that could possibly admit cases such as CAH. We do not have pediatric endocrinologist, and the nearest one is in Manila. There are 3 adult endocrinologists though.

At time that we see babies with the above condition, our training as neonatologist is our first armamentarium especially when our babies are in crisis/es, then a proper communication with our pediatric endocrinologists in Manila for further evaluation and management. It would be best if our patients have all the resources to have all necessary tests done, the medications bought. Unfortunately, not all Filipinos are in the same social stratum.

A baby who is already a month old came to my office for second opinion. Baby has ambiguous genitalia,  small for age and showed wrinkling of the skin (sign of failure to thrive), with a serum electrolyte test result (done weeks ago) and a confirmatory result for congenital adrenal hyperplasia. Mother wanted to know what are her options, and if this condition can be reversed. (It is so hard to tell a very definitive answer for these type of questions as sometimes, patients tend to misquote you when they go to another doctor if they are unsatisfied with your answers, or answer them satisfactorily but those weren’t the answers they were wanting to hear.)

One of the problem of congenital adrenal hyperplasia, aside from low circulating cortisol in the body system, is the loss of sodium. (They usually go together). If the sodium goes below critical level, it can trigger seizures that cannot be controlled by anti-epileptic drugs, until the sodium deficit has been corrected. This was my immediate concern. So I had to check first the sodium level of the baby and true enough, it was very low, near the critical level for seizures.

So what will a “probinsiyano” or rural physician do in this scenario? The best and ideal approach was to admit the baby and do necessary correction of the sodium deficit. But the mother refuses. Even if I strongly disagree with the mother bringing the baby home, I cannot force her. Thus, I had to be resourceful and creative on how to treat baby at home.

With regards the sodium deficit, this is usually computed (based on a formula that we, especially neonatologists should bear in mind). Next, derive the maintenance dose of sodium in 24 hours, which is often between 2 to 4 mEqs/kg/day. (If you are dealing with a baby who has deficit, then better use the maximum, which is 4mEqs/kg). Sodium correction however should not be done rapidly, it should be done in 48 hours, at a steady rate (and hence the requisite for a hospital admission).

I was able to compute baby’s sodium deficit and maintenance. Baby is on formula feeding to begin with. I asked the mother what is the average milk consumption for a day and that is where I based my computation. I was able to derive how much sodium is provided by the milk to the baby and it is just the same as the maintenance requirement. So now, my problem is how to deliver/administer the deficit.

There are sodium tablets that could be divided into papertabs and then you can incorporate that to the milk intake of the baby. (Of course, the taste of the milk will be altered — and that might again cause refusal of baby to feed, but then there’s no other way that I can administer the medication as mother refuses baby’s hospitalization). Unfortunately, there are no sodium tablets available locally. So the next alternative for me is to use the ampules or vials of NaCl solution available in the pharmacy (2.5mEqs/mL). With my computation, I got how many mL of the solution is needed per day, divide it into number of feedings per day. After 48 hours, I asked the mother to have the serum electrolyte repeated. Lo and behold, it went normal… So am I done with the baby’s problem? No… because the salt-losing part of the disorder is permanent, unless corrected by medications… which they cant afford yet as of the moment.

I had to maintain the baby on the available steroid and continue the sodium supplementation until the day when parents are able to save for the expenses baby will incur. A month has passed by already, and the baby’s sodium level has been maintained within acceptable level, and baby has been gaining weight as well. Mom checks baby’s sodium on a weekly basis… for now.. I really wish they will be able to raise funds for this…

(Disclaimer: this method of correcting sodium deficit has not been documented by a randomized controlled trial. But for now, it is the only available option I had for this patient. I credit my mentor Dr. Emilio A. Hernandez for teaching me this technique while I was under his tutelage as a neonatology fellow).

 

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When Intestines Go Out Of The Abdominal Cavity (Gastroschisis)

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(Image courtesy of: http://www.dfwareamoms.com/forums/showthread.php?t=53861)

GASTROSCHISIS is a condition where there is a defect at the anterior abdominal wall (usually towards the right of the umbilical cord insertion), leading to the evisceration of the intestinal segments or abdominal contents as seen in the picture above. Because of this, the intestines is now exposed to the amniotic fluid where the baby floats. (Amniotic fluid is made up mostly of the fetus’ urine, thus may contain chemicals that can be irritating to the intestines but not to the baby’s skin). This exposure triggers the intestines to react to the amniotic fluid, causing inflammatory response, thickening of the intestinal walls than their regular diameter when not exposed to amniotic fluid. If an operation is attempted immediately at birth, it would be impossible to put back all those intestines into the abdominal cavity at once hence a silo bag is placed to contain the intestines outside of the abdominal cavity. Slowly the intestinal contents in the silo bag is pushed (in days or weekly basis) until the abdominal cavity is able to contain everything, thus the wound is now closed.

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Intestines contained in a silo bag. (Image courtesy of http://bestpractice.bmj.com/best-practice/monograph/883/resources/image/bp/3.html)

AMNIO-INFUSION

The abdominal wall is sterilized. Then under ultrasound guidance, a needle is poked into the amniotic cavity. Amniotic fluid is then aspirated, and then an equal amount of normal saline solution is replaced back. This is then repeated until the return flow becomes clear in color. This is being done in order to refreshen the amniotic fluid that might irritate and cause inflammation of the intestines that has eviscerated outside the abdominal cavity (as you recall that the amniotic fluid is mainly composed of the fetus’s urine). If the intestines become inflamed, the abdominal cavity might not be able to contain everything when replaced all at once during a corrective operation.

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I was lucky again to have witnessed a case of a baby with gastroschisis, diagnosed prenatally via an ultrasound, and who underwent the above procedure. The perinatologist did serial amnio-infusion treatment on the baby (of course, while mom still pregnant with him) until the time that delivery was already inevitable. During one of the amnio-infusion treatment, I was a witness and assisting the perinatologist. The postnatal outcome was marvelous!

During delivery, we did a double set-up at the operating room. At one room was the cesarean section for the delivery of the baby. At the other room was the team of the pediatric surgeon waiting. We, the neonatology team was in between. A sterile plastic container was readily available. When the baby was out of the mother’s uterus, we the neonatology team attended to the baby immediately. We were so lucky that baby was vigorous upon delivery so there was no need to help him breath. Immediately while my colleague was wiping baby dry off the amniotic fluid, I was inserting a line and my other colleague was putting the baby’s legs, intestines and his lower trunk into the sterile plastic. This is to avoid losing much fluid from the abdominal cavity and contaminating the intestines and abdominal cavity. Then we immediately brought baby to the other operating room where the pediatric surgeon was waiting.

Primary closure (all intestines brought inside the abdominal cavity at once) was done on baby. This was easily possible because the intestines weren’t that much inflamed, thanks to the amnio-infusion, thus the abdominal cavity was able to accommodate them all. I wasn’t sure though if all layers of the abdomen were co-aptated and sutured all together, or just the skin and the subcutaneous layer, my bad not to have remembered.

The baby was able to tolerate feeding immediately. Because of this, the baby did not stay long in the hospital, went home in less than two weeks if I was not mistaken. I guess this is another benefit of amnio-infusion – avoid prolonged hospitalization and thus hospital acquired infections. I wish to do this again, now that I am in private practice.

 

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Aside

I was again given the opportunity to deal with a very interesting, intriguing, puzzling case in my career as a neonatologist.

I was called for the delivery of a baby presenting with hydrops as seen during prenatal ultrasound. (Hydrops refer to the generalized swelling of the baby, and is defined as the presence of fluid accumulation in third spaces including pleural, peritoneal, pericardial spaces, edema of the skin, as well as swelling/thickening of the placenta). Accordingly, the ultrasound detected fluid in the abdominal cavity and testicular sacs, but none wheresoever. The consideration of hydrops is dubious but still it was highly considered. I called on the different personnel who will be involved in the baby’s care later on. Meanwhile, the obstetrician has already spoken to the mother (the husband is overseas) and explained the possible outcome of the baby’s birth. (Hydrops usually is dreadful, some expire within an hour). They were preparing that the baby might indeed expire immediately after birth.

Upon baby’s birth, we noted that the abdomen was distended, scrotum was bulging, as big as an apple. The skin was not edematous however. It seems that baby did not satisfy the criteria for hydrops. Baby had a weak breath, thus I had to intubate him. In less than an hour, I took an x-ray to confirm presence of fluid in other body cavities. Liver was palpable on examination (though it may be normally appreciated about 2 finger-breadth below the right subcostal margin, baby’s liver was about 4 finger-breadth palpable); there was also a soft mass I palpated at the right side, seemingly an enlarged spleen. Pleural space (where lungs are) is free of fluid. This at least ensures that baby’s breathing would not be difficult, unlike when there’s pleural effusion (fluid in the pleural space), the fluid will prevent full expansion of the lungs with every breath, letting to less oxgenation of the blood, which will make the heart work double time. There was a single bubble (signifying air entry into the stomach), but none for the rest. This is understandable as the x-ray was obtained just minutes after birth. It will takes hours before the air swallowed will pass into intestines, then about 24 hours until the air passes out of the anus.

I requested for ultrasound to see what in the abdomen is causing this disorder in him. But to my and the sonologist’s surprise, we saw nothing but a large liver. There was no tumor, the intestines were being pushed down though, ebbing and bobbing into the scrotal sac. The mass I palpated indeed was the spleen. But these don’t seem explain why there is fluid in the abdomen, and the scrotal sac enlarged, as seen in the prenatal ultrasound. With a liver enlarged, I tried to work up the baby along that line. I tested for blood samples reflecting liver functions, decided to repeat the x-ray of the chest and abdomen 6 hours after birth, this will give ample time for air to pass through to the rest of the intestines distal to the stomach.

Repeat chest and abdominal x-ray showed passage of gas into the distal intestine. This can eliminate pyloric stenosis (part of the stomach before duodenum) as a possible entity. Albumin was low, so I corrected.

But this wasn’t of a significant help. It won’t still explain why there was herniation of intestines into the scrotal sac, nor the large liver. It may explain the fluid accumulation, but that’s just it. I was at a loss. I was at a loss what next step to take. There were no other organ systems showing abnormalities, which might suggest a syndrome. It was a clear cut gastrointestinal system derangement. I didn’t shame to call on a gastroenterologist to help me solve this puzzle. I didn’t want to miss a thing for the sake of the baby, who I am being asked to do everything possible to make him survive. (A herculean request).

The gastroenterolist also seemed puzzled by the baby’s case. A toss between malignancy and… it was hard to come up with differential diagnoses… On baby’s second day of life, his abdominal girth dramatically increased, but remained soft. There was feces meconium coming out of the baby’s anus, though the color was like that of a caramel; there was no vomiting. This tells you that there seems no obstruction of the intestinal tract. But we wanted to sieve and scan through and don’t want to miss anything. Even if it was initially mentioned that CT scan might not be of help, we still did it. Surprisingly, the CT scan of the abdomen revealed only a large pneumoperitoneum (air inside abdominal cavity, but outside the intestines – which should never happen in a normal individual), fluid accumulation, but nothing more. This then puzzled me all the more; air can only escape into the abdominal cavity if there is a perforation along the intestinal tract. I then referred the baby to a pediatric surgeon, who scheduled baby for an emergency explore laparotomy.

At the operating room, the stomach, duodenum and jejunum were intact. At the middle of ileum however, there was a perforation, and an atresia (obstruction due to non-recanalization of the intestinal cavity during the development). The atretic portion, together with the perforated segment was then excised, washing and evacuation of the spilled fluid and meconium into the abdominal cavity and creation of ileostomy were done. We marveled at the actual operative findings in this baby because we never expected it to be so. Gladly, it wasn’t a cancer or a tumor. So, in retrospect, the perforation occured even before the baby was born. The reason and when it happened, we dont know. This lead to leakage of fluid and meconium into the abdominal cavity that incited reaction from nearby organs, including the liver which became enlarged. There were adhesions also of the intestines due to inflammatory reaction to the meconium that was spilled. The liver then produced low albumin as well that lead to the edema formation.

Baby did well during the operation. No untoward complications took place. We will have to play close attention to the function of the intestines as we have yet to commence feeding.

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One week after the discharge, he came back for his return visit to the office. I was surprised upon seeing him. He was so malnourished, his skin was wrinkled and he looked severely dehydrated. In the medical parlance, that is a condition we refer to as “failure to thrive.” Painful as it may be, I had to admit baby again, to “rehabilitate” him from his dreadful status. It seemed that while on ileostomy, most of the milk he has been taking was not absorbed. Instead, he was dumping them and thus the resultant situation. (This is a condition known as short bowel syndrome).

I referred him back to the surgeon for further management. Finally, we agreed to have baby operated on again, to reunite the intestinal segments that were disconnected before to create an ileostomy. After preparing baby for the said procedure, the operation was finally carried out. It took about 72 hours when we noted that baby has patent intestinal segments, he was having regular passage of stools, hence we started feeding baby, initially minimally, then gradually increasing. After he was able to achieve his full enteral feeds, the venous line was discontinued. We even documented this by doing a fluoroscopy, to really check if the intestines are patent. And yes, the dye passed through without impediment through the intestines, no retention whatsoever. This made us then confident that baby’s problem has been resolved. So, for the remaining days of baby in the hospital, he was being fed, he was moving his bowels regularly, his weight noted to be increasing daily. And we were happy to send him home.

He was asked again for follow-up return after a week. And again, baby surprised me. His abdomen was now bloated like a balloon. Again, this puzzled us once more. He seemed to be having Hirschsprung’s disease and this just contradicts how he behaved during the last hospital stay. Well, we had to abide by the baby’s presentation. The surgeon again created an ileostomy, repeated fluoroscopy and obtained biopsy specimen. Then baby was back to his problem of short bowel syndrome. It was not a challenge how to resolve this but with the help of gastroenterologist, we were able to minimize him dumping watery stool. Baby was discharged once more with confidence that his problem has been resolved. Our aim then is to nutritionally build baby and then when bigger enough, will do the corrective surgery.

For now, baby is stable, with a slow weight gain… I really hope it works this time so baby will recover fully before his next surgery.

A Puzzling Abdomen

 
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Posted by on September 7, 2012 in Congenital Anomalies, neonates

 

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Cleft Lip and Palate – Complications and When to Repair

How devastating is it for parents to find out their newly born child has congenital defect? It must be very traumatic, they must feel very distraught. I cannot entirely speak for them but I do partially understand that it is a very painful reality. I will never be able to quantify the pain that they are experiencing at that very moment seeing their child with abnormality. They must be having mixed emotions and their thoughts are running awry. Feeling depressed, mixed with guilt, questions on what did they do wrong to deserve such an abnormal child, why them of all people, among other else.

Cleft lip and palate are one of the most devastating abnormality a child could have. Not only because it is aesthetically displeasing, but it also brings along with it several medical conditions. A child can have recurrent upper respiratory infection, obviously from the defect. In addition, if the cleft palate also affects the opening of the eustachian tube, a child can also have a frequent ear infection and worse deafness.

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(image courtesy of http://plasticsurgery.about.com/od/Cleft-Lip-And-Palate/ss/Goals-And-Timing-Of-Cleft-Palate-Repair_3.htm)

Eustachian tube is a communication that clears and drains fluid and debris from the middle ear to the nasopharynx. In a child it is almost horizontal relative to its opening at the nasopharynx, hence the easier access for infection. It is naturally closed at rest, but the muscular opening at the nasopharynx end is disrupted by cleft. This does not allow the muscle opening to open thus fluid accumulates in the middle ear, followed by infection and eventual hearing loss. The incidence of hearing loss is decreased if repair is done early (before 12 months old).

Another problem that cleft palate imposes is feeding difficulty. For one, there is a contiguity of the oral and nasal cavity. This does not allow the baby to create a sufficient suction pressure needed to extract milk from the breast. If baby swallows, he tends to swallow more air than food, and food may regurgitate through the nasal cavity. This is a risk factor for malnutrition.

Speech is another important aspect that must be considered in children with cleft palate. Between two and three months of age, infants will start making sounds. Between six and ten months, babble such as “dadada” and “bababa “will occur. The prelinguistic babbling of infants is ultimately crucial in the development of normal speech. Most children speak their first words (mama, dada) by 13 months of age. True speech — characterized by the ability to put words together to convey meaning and communicate with others – develops by two years of age.

All of these steps on the pathway to intelligible speech require a normal velopharyngeal mechanism. The velopharyngeal mechanism includes the palate and the back of the throat. During speech, the goal is to have air flow out through the mouth instead of out through the nose for most speech sounds. The exceptions are m, n, and ng. In order for air to be directed out of the mouth and not the nose, the soft palate lifts and moves toward the back of the throat. You can see this motion of the palate when you open your mouth and say “ahhh.” This movement closes off the mouth from the nose. If this movement is impaired due to a cleft in the palate, too much air will escape from the nose during speech and the speech becomes hypernasal. Hypernasal speech is speech that sounds overly nasal in quality as if the person is talking through the nose.

In summary, when there is a cleft in the palate, air escapes out from the nose instead of from the mouth when certain sounds are made. Repair of the cleft palate is necessary for the development of normal speech. Speech therapy may still be required after repair of a cleft palate. This is especially true if a cleft palate is closed later in life, after a person has established compensatory habits.

Timing of Repair

The optimal timing for cleft palate repair is controversial. Repair is considered early when it is done before 12 months of age. Early repair is associated with better speech development and less hearing loss. On the other hand early closure of the palate can impair facial growth. Specifically both nasal growth and palatal growth can be restricted with early repair. Delayed repair is associated with better facial growth, but at the cost of better speech and hearing outcomes.

In order to glean the advantages of both early and late repair while minimizing the disadvantages, a two-stage repair has been proposed. A two-stage repair involves closure of the soft palate between three to six months of age and closure of the hard palate between 15 to 18 months. With this approach, the part of the palate necessary for normal speech development is intact, but without the growth restriction of closing the hard palate.

REFERENCE: 

http://plasticsurgery.about.com/od/Cleft-Lip-And-Palate/ss/Goals-And-Timing-Of-Cleft-Palate-Repair.htm

I have a newly born baby who presents with cleft lip and palate. At the same time, the baby is small for gestational age (the weight is below 10th %ile rank for gestational age). At present, my dilemma is how to feed the baby. There is no pediatric orthodontist around whom I could refer the baby for denture. (When I was still a fellow, we had a similar case. We referred this to a pediatric orthodontist who created an artificial palate that we put on the baby every time he feeds. This creates a barrier between oropharynx and nasopharynx thus milk do not regurgitate into the nasal cavity. While it may not be able to create the same suction pressure as a normal child does, it still enables the baby to suckle well).

There is no available special nipple, specifically designed for cleft palate babies, locally. Sure, I could try breastfeeding but as stated above, the baby might not be able to create enough suction pressure to extract milk from his mother’s breast. This may bring about malnutrition and remember the baby is already small for gestational age. This will present a big risk indeed for baby to be malnourished. Babies who are small for gestational age need their weight to be corrected before the reach 6 months old so as to avoid their risk of acquiring metabolic syndrome later during adult life. Meanwhile, I have inserted an orogastric tube but I will have to let baby suckle before going home soon.

 
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Posted by on July 20, 2012 in Congenital Anomalies, neonates

 

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