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Monthly Archives: October 2012

Case of a “Mistaken Identity”

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Photo courtesy: http://5minuteconsult.com/ViewImage/2027562

Once upon a time… a baby “boy” was brought to my office because of intermittent fever. He was almost 2 months old that time, but weighed too light for “his” age. I was worried about “his” condition (as babies who are in their early infancy, once febrile should be worked up for any infection). More so, the baby looked frail and too dry.

Another problem mentioned by the grandmother to me was the genitalia which looked odd. You cannot outrightly say the baby is a boy or girl. It was a case of ambiguous genitalia. Yet in “his” birth certificate, he was assigned “male” gender.

On doing my history, the mother gave birth at a lying-in clinic, and the baby was discharged with the mother the following day. Baby was signed out as “male.” After a week, the baby was admitted at a hospital because of a febrile condition. “He” was treated in the hospital for a week and for unknown reason, the attending pediatrician did not ascertain if newborn metabolic screening was done at the place of birth. What she just said was to do ultrasound to find out the genitalia of the baby, but not in an urgent manner. (Lying-in clinics are not mandatory newborn screening facilities, especially if they are not PhilHealth accredited; but newborn metabolic screening testing is a requisite for a birth institution to be PhilHealth accredited).

Baby was discharged after a week, apparently improved, but still was not thriving well. Two days before they came to my clinic, fever recurred. And since a cousin of the baby is my patient, the mother of my patient (who is an elder sister of this baby’s mother) referred me to her.

I admitted the baby and worked “him” up. I obtained blood sample and sent it to Manila immediately for newborn metabolic screening and gender determination. Another fraction of the blood was sent to the laboratory for electrolyte determination. Lo and behold the sodium in her system was below normal, at the level of provoking seizures (I’m glad “he” did not seize at all before the result came in). I did the necessary correction with my rudimentary ways. Ideally, when sodium chloride is required, the tablet should be used. But since it is not available, what did I do, based on the computations, I used the sodium chloride solution on ampules, divided it into fractions, and incorporated it into the baby’s feeding (this is a method taught by my mentor during my fellowship). It makes the milk tastes saltier but we can’t do otherwise locally.

I’m glad the baby responded with my treatment. Two days into her hospitalization, I got a call that the baby was indeed a case of congenital adrenal hyperplasia. They will soon let me know the gender of the baby after the chromosomal analysis (to determination baby’s gender, also known as karyotyping).

I discharged the baby improved after a week of hospitalization, with maintenance of sodium chloride incorporated to her milk intake and prednisone, pending her referral to an endocrinologist to Manila afterwards. She was already starting to gain weight. On follow-up, they brought along the result of the karyotyping, which then showed that baby is FEMALE.

This was shocking because baby was already named with a male name. Good thing she wasn’t baptized yet, so that remedy of things would still be possible. However, paperworks with the NSO would be tedious to accomplish.

Baby is now on lifetime maintenance with corticosteroids, mineralocorticoids. As a downside, she can’t be given live vaccines. And if she gets infected by these viruses, it might be disastrous for her as her immune system is being suppressed by these steroids.

Matters needed to be remembered here:

1. Newborn metabolic screening can detect congenital adrenal hyperplasia. Had it been done immediately within birth, the urgent metabolic and electrolyte problem of baby could have been addressed immediately as well.

2. When a baby has ambiguous genitalia, it is not urgent that we assign sex of the baby. Label baby as “BABY” and don’t affix any gender/sex until the result of the Karyotyping comes in. This is what I got from my mentors to avoid any gender confusion.

3. Life can still be normal for these kids. Genital reconstruction may be done later on as kids are growing. They need to avoid viral infections though.

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Positive Attitude

Just because you can’t own a new gadget, you feel doomed? Just because you didnt get to buy a limited edition of Louis Vitton or Hermés bag, you feel incomplete? You think that already gives you enough reason to procastinate, feel deprived? Satisfaction and contentment seems to vary depending on the social strata a person belongs to. While you worry for those trivial matters, some are having a problem how to bring food on the table three times a day, money to buy the next dose of antibiotics of their hospitalized kin, or plywood to build a casket for his dead son…

Shouldn’t simple matters bring you happiness – you have work, you eat regularly, you can change clothes everyday, you wake up daily, you are not ill?

A young man, in his early 20s, recently graduated from college. He was vibrant… until one day he was vomitting and having a headache. He went to the hospital and on vital signs check, his bloop pressure was an astonishing 200+/100+. His work up pointed to a kidney disease, probably chronic in nature but was never detected. Apparently, kidney biopsy is already moot and academic. Adding up to the insult, he is already on severe renal insufficiency state, bordering on the state where he needs dialysis. The advise was definitive treatment would be kidney transplant (both). Meanwhile that he is on wait list, he is on a maintenance drug, costing him 45 pesos per tablet, 2 tablets 3x a day. And there are other meds he need to take, plus the regular check up. This he needs inorder to abort the progression of his condition, yet the kidney injury is status quo, it does not improve. He was suggested to undergo the experimental stem cell therapy, and according to him, he will need an estimated 3M pesos expenses for this.

Surprisingly for this man with a very depressive health status, he remains positive and optimistic. He cracks joke and even smiles while he shares his story. Unusual huh? Here is a man who is on the brink of death, smiling… yet there you are sulking for missing the concert of your idol, for missing the launch of the newest gadget, for having worn a gown similar to the gown worn by a person of belonging to lower social standing than you… Yeah!

 
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Posted by on October 28, 2012 in Uncategorized

 

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When One of the Twins Die In Utero

Did you always think that when a mother conceives twins, triplets, quadruplets or more, all of the fetus will be born alive? As morbid as it maybe, some fetus/fetuses die prematurely even before being born. Some may die within the first, 2nd or 3rd trimester (3 months). And their death can bring about complication/s not only to the mother, but to the remaining twin as well.
The effect of the fetal death to the surviving twin may vary according to the timing of the death. In a data published 1994, loss of one twin at the first trimester does not impair the development of the surviving fetus. (Some are completely resorbed in a condition termed as “vanishing twin syndrome.”) In the second trimester however, this is associated with increased risk for the survivor as reflected by a high incidence of growth retardation, premature labor and perinatal mortality.
An observation of twin pregnancies where single fetal death occurred after 20 weeks of gestation, the mothers were known to have preeclampsia which may also prompt babies to be delivered prematurely. The surviving twin aside from being delivered prematurely, they are also observed to be with intrauterine growth restriction. This could be an effect of the death of the other twin, or that and the effect of preeclampsia wherein the blood flow to the fetus may become diminished. This in turn causes diminished delivery of oxygen and nutrients to the baby thus. Head MRI and ultrasound of these survivors revealed some neurologic injury. Fortunately, in these mothers, there was no detected abnormality on coagulation profile.
A similar observational study was also done among twin pregnancies where a single fetal death occurred after 20 weeks of gestation. The study showed that the main cause of the fetal death was twin-to-twin transfusion syndrome. The survivors were also delivered prematurely and later also died after birth because of the same cause. (TTTS is due to abnormal communication between the blood vessels supplying the placenta of both, leading to shunting of more blood to the other twin while deprivation of the other one. One may die immediately while still in utero, while the other may survive or end up hydropic; or both may survive with severe physical discrepancy — see my other blogs on hydrops fetalis). 
Another in depth observation was done among twin pregnancies complicated by single intrauterine fetal death after 26 weeks of gestation. Chorionicity of the twin pregnancies was noted (see illustration below on the types of twin pregnancy according to chorionicity).
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(Image courtesy of  http://www.health.sa.gov.au/ppg/Default.aspx?PageContentMode=1&tabid=75)
Often times, the surviving twin was delivered prematurely, and that baby ended up with intrauterine growth restriction. The mother on the other hand had preeclampsia and gestational diabetes, both of which may also lead to the growth restriction of the surviving twin. In cases of monochorionic pregnancies, again twin-to-twin transfusion syndrome afflicted the babies. Some of the twin eventually died as well in utero (before being delivered), while others after birth. Also, ultrasound of the baby’s head should cerebral anomalies in some.
Even if one of the twins survive after the death of the other, and gets delivered, it is not reassuring that he will live and be discharged as well baby as his outcome may be compromised by the complications of premature birth, or presence of neurologic injury.

References:

1. Prömpeler HJMadjar HKlosa Wdu Bois AZahradnik HPSchillinger HBreckwoldt M. Twin pregnancies with single fetal death. Acta Obstet Gynecol Scand. 1994 Mar;73(3):205-8.

2. Axt RMink DHendrik JErtan Kvon Blohn MSchmidt W. Maternal and neonatal outcome of twin pregnancies complicated by single fetal death.J Perinat Med. 1999;27(3):221-7.

3. Aslan HGul ACebeci APolat ICeylan Y. The outcome of twin pregnancies complicated by single fetal death after 20 weeks of gestation. Twin Res. 2004 Feb;7(1):1-4.

4. Chelli DMethni ABoudaya FMarzouki YZouaoui BJabnoun SSfar EChennoufi MBChelli H. Twin pregnancy with single fetal death: etiology, management and outcome. J Gynecol Obstet Biol Reprod (Paris). 2009 Nov;38(7):580-7. Epub 2009 Oct 14.

 

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Inspiration Amidst Tragedies

She is a fierce, strong woman. She may come off intimidating, especially at work, but she just means business and patient’s convenience and comfort; nothing personal. She is respected by her colleagues as she is a no non-sense persona. Yet behind this demeanor is a great story… a story of pain… a story of survival… a story of inspiration.

I did not ask permission from her to write this story but as a tribute to her, I am still writing this to share and inspire others out there who are on the brink of losing hope…

She was married (yes, WAS…), had 3 kids (again, yes, HAD). Her husband was diagnosed to have a rare form of diabetes apparently, which unfortunately was passed on to her two sons as well, at an early age.

Few years ago, husband died from complications of his diabetes. That was painful enough. Who would she be with as she goes on through life? But wait… few months after the husband’s death, one of the son died as well, seems from the same problem as the father did…

As I have read from someone before, one of the hardest pain one experiences in life is to bury one’s own child. She wasn’t over mourning the loss of her husband and yet her son immediately followed. What pain could be worse than that?

But just as when she was able to move on, tragedy struck her after another. Her next son became ill. It was an agonizing scene… and despite expert intervention by everyone, he succumbed and died. I know she hasn’t completely healed with her previous loss, and still, this happened.

Just as you thought it was over…

Few months after the son was buried, and while still mourning, she was diagnosed with breast cancer. Yes, the pain at its worse/worst. Luckily though, it was stage 1. She underwent chemotherapy and seems to be in complete remission. I hope it will not recur. She has gone through a lot for recurrence now.

Being diagnosed with cancer is already devastating. The cancer in itself as well is very painful, and the pain is so severe no words would be able to describe it. But she collected these pains up her shoulder and shrugged them off. Aside from these pain and melancholy brought about by cancer, she had other reasons to be depressed, enough to commit suicide. But she didn’t yield.

Her struggle through all these is what I find truly inspiring. While others boast of problems upon problems, here is a woman who endured the worst kind of pain I could ever think of. She didn’t give up. She fought through, coped up and shook off and kept moving on with her life. She didn’t let one tragedy pull her down, despair as if her life no longer matters. She endured. She is my model for strenght, resilience, hope and optimism.

If you think your breast cancer is the worst news you ever had in your entire life, read this story and be reminded that someone else had worse struggles than you did or is having right now.

 
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Posted by on October 6, 2012 in Breast Cancer

 

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Does Physical Abuse To Pregnant Mother Affect The Baby?

Did you know that physical violence to a pregnant woman can cause intrauterine growth restriction (retardation)? Strange as it may sound, yes, physical abuse of a pregnant woman can indeed to several perinatal complications. Worse the fetus may be dead by the time he is born.

This was the topic during the first day of the convention I attended, though I failed to catch the first part of the talk. What struck me was the slide showing a strong association between violence towards pregnant woman and adverse outcome of the baby.

With that, I searched for any articles online, any study on physical violence and its adverse effect among pregnant women. I found a study conducted in Canada, but it is a large scale one involving 4750 study population. Independent variable (cause) studied was the physical abuse, which may have occurred even as early as before pregnancy. The dependent variables (outcome/effect) were presence of antenatal (before birth) hemorrhages, intrauterine growth retardation, and perinatal death (death between 20 weeks of pregnancy until 7 days after delivery). The study has shown that there is higher risk for occurrence of antenatal hemorrhage, intrauterine growth retardation and perinatal death among abused pregnant women.

(Reference: Patricia A. Janssen, PhD,a,c,d Victoria L. Holt, PhD,a Nancy K. Sugg, MD, MPH,b Irvin Emanuel, MD,a Cathy M, Critchlow, PhD,a and Angela D Henderson, PhDd/  Intimate partner violence and adverse pregnancy outcomes: A population-based study. Am J Obstet Gynecol 2003;188:1341-7.)

The speaker in the lecture explained why physical abuse restricts the growth of the fetus. Abuse causes the woman to be stressed. During stress, there is a release of stress hormones and substances, including epinephrine (otherwise known as adrenaline). This causes an rise on the resistive index at the level of the umbilical vessels.

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(http://www.fetal.com/IUGR/treatment.html)

During ultrasonography, the sonologist can focus on the umbilical cord and obtain the resistance index on the blood flow that goes to the baby. (Resistance index is almost similar also to the resistance along an electric wire; the higher the resistance, the lesser the output in the end). If the resistance index is increasing, it means to say that blood flow through the umbilical cord going to the baby is decreasing. Because of lack of blood supply, the baby receives less nutrition and oxygen– the basic baby’s requirement for rapid growth in utero. As a result, baby ends up smaller than expected for his age of gestation.

The chronic the stress of the mother is, the worse the fetal outcome. And as I have previously stated, worst case scenario may end up in fetal death, not from the physical trauma but from the reversal of blood flow to the fetus due to very high resistance index.

(Will include the lecturer’s name later when I get hold of my program).

 
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Posted by on October 2, 2012 in neonates, Physical Abuse, Pregnancy

 

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