9 February 2004
Dear Readers: Sincerely,
Dr. Warren hopes to help all who ask his advice and to enlighten all who read Ask Dr. Warren. For your own well being please keep in mind that advice you read here may not apply exactly to your own situation, and that if you are sick, no information on the web can take the place of a hands on examination by your physican who knows you and cares about you.
Dear DR: Von Willebrand Disease is an inherited bleeding disorder similar to hemophilia. The bleeding tends not to be as severe as with classic hemophilia and the risk of internal bleeding and bleeding into joints is less than with classic hemophilia. Because of the abnormalities of platelet function in Von Willebrand Disease, problems with nosebleeds and oozing from cuts is more common in Von Willebrand Disease than hemophilia.
Classic hemophilia is seen primarily in boys because it is an X-linked trait carried by the mother (who is not affected). Girls who inherit the trait from their mothers will be carriers just like their mothers, whereas boys who get the gene will have hemophilia. Von Willebrand Disease differs in that it is not carried on the X chromosome and may be a dominant trait so that inheriting just one gene for the disease will give a person (male or female) the disease. The milder forms of it may be asymptomatic and not be diagnosed until preoperative blood work is done. Nonetheless, those patients have a risk of bleeding with surgery and require pretreatment, usually with cryoprecipitate, to prevent bleeding.
The following information comes from Behrman: Nelson Textbook of Pediatrics, 15th ed., Copyright _ 1996 W. B. Saunders Company
Von Willebrand Disease (Vascular Hemophilia)This disease is not as common as hemophilia A (factor VIII deficiency) but is probably more frequent than hemophilia B (factor IX deficiency). It occurs in both sexes and is inherited as an autosomal dominant trait. A few families with severe disease have been described in which the genetic transmission was autosomal recessive. The disease is caused by underproduction of von Willebrand protein or, in some families, by the synthesis of a dysfunctional protein. The von Willebrand protein contains a platelet-adhesive component (von Willebrand factor) and also the protein functions to carry factor VIII in the plasma.
There are at least three major varieties of von Willebrand disease, based on genetic and laboratory studies. Types I and II are autosomal dominant and type III is autosomal recessive. Types I (classic von Willebrand disease) and III show reduced factor VIII activity, reduced von Willebrand protein and function, and usually a normal multimer structure of the von Willebrand protein on gel electrophoresis. Type II can have normal or reduced factor VIII activity, normal or reduced von Willebrand protein, reduced von Willebrand factor activity, and a loss of large and intermediate-sized multimers on electrophoresis.
CLINICAL MANIFESTATIONSThese include nosebleeds, bleeding from gums, menorrhagia, prolonged oozing from cuts, and increased bleeding after trauma or surgery. Spontaneous hemarthroses are very rare.
LABORATORY FINDINGSThe bleeding time is prolonged in all von Willebrand syndromes. The platelet count and prothrombin time are normal. The partial thromboplastin time may be normal but usually is mildly to moderately prolonged. Type I patients (classic von Willebrand disease) have reduced plasma levels of von Willebrand protein, von Willebrand factor activity, and factor VIII activity. The platelets in von Willebrand disease have decreased adhesiveness and do not aggregate when the antibiotic ristocetin is added to platelet-rich plasma (because von Willebrand factor is missing), unlike platelets from normal individuals. Rare patients may show increased reactivity to ristocetin (type II B).
TREATMENTTherapy consists of replacement of the von Willebrand factor using fresh frozen plasma or cryoprecipitate. Cryoprecipitate is the preferred form of therapy for serious bleeding or for preparation for surgery. The recommended dose is two to four bags of cryoprecipitate/10 kg, which can be repeated every 12-24 hr, depending on the bleeding episode to be treated or prevented. Patients with mild to moderate type I von Willebrand disease who have minor bleeding manifestations (e.g., epistaxis), or who are to undergo certain surgical procedures (e.g., dental extraction), may be given DDAVP as for those with hemophilia A.
Thank you very much
Dear M: When I first started in pediatric practice over 20 years ago, the primary series of OPV (polio) consisted of 3 doses given 2 months apart followed by a booster at 18 months and 5 years. After that (I don't remember when) the third dose became optional and was eventually eliminated. Most recently a third dose given any time between 6 months and 18 months is considered a booster. While this means your son has had an extra dose by today's usual standards, it does not constitute an overdose. Since each does of any vaccine carries some risks, no matter how small those risks are, an extra dose constitutes an unnecessary risk at the time it is given, but there is no additional long-term affect of having an additional dose. There is no major risk to your son due to receiving an extra dose of OPV. He should still have a booster at 4-6 years.
I would avoid giving any artificial ingredients to infants whenever possible. Since aspartame isn't recommended for use in infants, it really hasn't been studied to determine if there are any special risks associated with use in infancy or prolonged use starting in infancy; however, with the exception of giving it to children with phenylketonuria, I know of no theoretical risks associated with its use in infancy or any evidence that it is harmful to infants.
I am curious if this is a commonly seen problem. What are the possible implications of this? He does get hiccups rather often and they seem rather "hard". I know that hiccups in the infant are common, but wonder if their severity has anything to do with this bump.
I am probably more concerned with his chest area than most because I was a VSD baby. (Actually, Tetralogy of Fallot, corrected at age 6). Any possible connections?
Thank you in advance for your time.
Dear KS: Infant bones are relatively flexible. Even though the xiphoid process of your son's sternum feels hard, it sticks up the way it does because the sternum is somewhat flexible and the shape of the infant's chest and muscular structure coupled with the flexibility of the sternum results in the tip of the xiphoid being pulled upwards. This is normal. It will become flat as the baby gets older.
I change his diapers often, so I know he is not just wet and uncomfortable. At times he protest having his diaper put back on because he can't scratch as well. Is this normal? He had a checkup at 18 months and is not due to return to the doctor until he is 2( in 3 months) Do you see a problem? This is my first child and I am unfamiliar with problems of this sort. Thank you for your response.
Dear Diane: It is normal for baby boys to have erections regularly. It is also normal for infants to explore and handle themselves. Your son may be responding to the sensation of the erection when he scratches at himself. I see no cause for concern, but you should have your pediatrician check the area at your son's next checkup since this is apparently a change in your son's behavior.
Thanks and Best Regards
Dear BG: The ultrasound study has probably shown a hydronephrosis, fluid on the kidney. This may resolve on its own. The baby should have an ultrasound of the kidneys after birth. There is no intervention to be undertaken now. Hydronephrosis results from obstruction of urine outflow from the kidney. If the hydronephrosis does not resolve by 3 months, or is severe enough to suggest a need for surgical intervention, you will have to consult a urologist.
If the ultrasound findings are not consistent with a hydronephrosis, I would need to know what diagnosis the ultrasound suggests in order to comment on it.
Not only did my daughter spit-up continuously, but she also had terrible attacks of stomach pain. She would suddenly scream out, sometimes during deep sleep or even at happy play times. She stiffens from head to toe and her stomach is rock hard during these attacks.
Even though the spitting up is not as frequent or as consistent, the stomach attacks have continued. Sometimes she screams from noon till 8-9 p.m. Sometimes it only lasts 10-15 minutes. During these painful moments, nothing helps soothe her; rocking, cuddling, feeding, walking, NOTHING.
Because my daughter has gained weight (sometimes only and ounce or two) at every pediatrician visit, her doctor would not prescribe any medication for the reflux. However, finally at my insistence, about 2 weeks ago, he said she could take Mylanta before each bottle. I really can't tell that this has helped. She still spits up and still screams.
Also, because of the extreme amounts of cereal that she is consuming, she has been extremely constipated. I was told to add 1-2 Tbsp. of dark Karo syrup to every bottle and to give her prunes and prune juice.
We have seen two pediatricians, one PA, and an RN at the Health Dept. about these problems, especially trying to find some relief for the stomach attacks. The only answer that I have received is that "Babies cry sometimes." One pediatrician decided that it was gas pains and I should give her Mylicon drops. So I did, every 4 hours for 2 weeks. No change whatsoever!
Another thing that my friend, who has been reading up on reflux, is certain could be related is that my daughter makes these noises when she breathes. Sort of a raspy wheezing sound that the pediatrician has diagnosed as just my daughter wanting to hear herself. ???
I just have to wonder if there could be some other problem with her stomach. I wonder if I need to take her to a pediatric gastroenterologist.
Dear AC: I think it's time for you to see a pediatric gastroenterologist for diagnostic evaluation and management of your daughter's reflux. Since most babies spit and have some degree of reflux, poor weight gain is certainly one indication for intervention, but so is pain associated with the reflux an indication for medical treatment. To establish that that is the reason for your daughter's screaming, she may require endoscopy (a look inside her esophagus with a scope).
Any adult who has suffered with GE reflux can attest to the fact that it is an unpleasant experience. If it progresses to cause esophageal spasms, it can feel almost like a heart attack. If your infant is suffering such symptoms, there are several medication which can help.
I would be cautious about using Karo syrup as a stool softener for infants. It is not recommended for children under two years of age, just like honey, because of the potential for it to carry botulism spores which could cause infant botulism. Additional fruit (not bananas) and prune juice are okay for managing constipation.
Since I haven't heard the noise your daughter is making, I cannot comment on it. GE reflux can cause wheezing, but this is generally associated with a significant amount of coughing rather than just a raspy noise.
Dear JD: It is true that spoon shaped nails can be seen with iron deficiency anemia. It is very simple to determine if that is the case just by testing to see if your daughter is anemic. If she is, and the red cell indices (measurements of cell size and shape) suggest iron deficiency, she can be treated with iron and the spoon shaped nails will flatten. In the absence of iron deficiency anemia, spoon shaped mails do not indicate any medical problem. Since Great Grandpa also had spoon shaped nails, it may be an inherited genetic trait.
Reassure your daughter that it is not anything to worry about and help her to feel special for carrying a family trait that few people have. If that does not make her feel okay about it, consider letting her wear paste on nails for special occasions (but don't rush on that option. They grow up fast enough as it is).
Thank-you in advance for your help.
Dear MB: The Center for Disease Control (CDC) provides an extensive amount of information about vaccine safety and the need for immunization at http://www.cdc.gov/nip/vacsafe/. If these articles do not provide the information you need or you have questions about the articles, please contact me again.