Case (33)

[Doctoor]

This is a jaundiced, 4 day old, 3.1 kg, appropriate for gestational age (AGA) female infant born at term to a 25 year old A+ primiparous woman with gestational diabetes. The pregnancy was otherwise uneventful. Labor was augmented with Pitocin. The baby was discharged home on day of life 2 at which time her weight was down 4% from birth weight and she had mild facial jaundice. In the hospital, she was breast fed every 3 hours and had 2 wet diapers and one meconium stool over a 24 hour period. On day 3, her parents gave her water on two occasions as she appeared hungry despite regular and frequent breast feeding attempts. In addition, they noted an increase in the degree of jaundice, but failed to address it after being reassured by family members that jaundice is common. They also had an appointment to see their pediatrician the following day. In the office, on day 4, mother reports that she is breastfeeding the baby every three hours and that there have been 2 wet diapers per day. The urine is described as dark yellow in color and the stools appear dark green.

Exam: VS T 37.8, P 162, RR 55, BP 63/45. Weight 2.7 kg (25%ile), length 50 cm (75%ile), head circumference 34 cm (75%ile). The infant is jaundiced and irritable. The anterior fontanel is slightly sunken, the oral mucosa is tacky, and there is jaundice to the lower extremities. No cephalohematoma or bruising is present. The sclera of both eyes are icteric. Muscle tone and activity are normal. The remainder of the physical exam is normal.
Questions:
1- What is your diagnosis?
2- How to differentiate from other causes of neonatal jaundice by history wise?
3- What are the important negative points with positive values in this case?
4- Do father's blood group is important in this case & why?
5- What is the significance of jaundice appearing in the lower extremities in this case?
6- What kind of investigations are you going to order?
7- How to treat it & what is the prognosis?

[Mustafa]

Assalam.

1. Indirect (unconjugated) hyperbilirubinemia. 
2. Presentation and duration;
-Typically, presentation is on the second or third day of life.
-Jaundice that is visible during the first 24 hours of life is likely to be nonphysiologic; further evaluation is suggested.
-the mother's impressions as far as adequacy of breastfeeding should be elicited, and the stool color should be assessed.

Family history;
-Previous sibling with jaundice in the neonatal period, particularly if the jaundice required treatment
-Other family members with jaundice or known family history of Gilbert syndrome
-Anemia, splenectomy, or bile stones in family members or known heredity for hemolytic disorders
Liver disease;

History of pregnancy and delivery;
-Maternal illness suggestive of viral or other infection
-Maternal drug intake
Delayed cord clamping
-Birth trauma with bruising

Postnatal history;
-Loss of stool color
-Breastfeeding
-Greater than average weight loss
-Symptoms or signs of hypothyroidism
-Symptoms or signs of metabolic disease (eg, galactosemia)
-Exposure to total parental nutrition

3. Negative points with positive values: If you mean assess the severity then I would say weight, length head circ. and a slightly sunken fontanel and irritability as well as jaundice in the lower extrimities.
positive values might be that the child has not developed cephalohematoma or bruising yet.

4. Father's Blood group is important in prenatal screening but not significant in postnatal assessment. In ABO incompatibility and RH determination between the mother and the new infant is significant.
Since babies inherit their blood type from each parent, it is possible for a mother and baby to have different blood types. For example, a mother who is type O and a father who is type A could have a baby who is type A. In ABO incompatibility, the mother's blood type is O. More commonly, the babies blood type is A rather than B.

5. the farther the jaundice progresses down the body, the higher the total serum bilirubin, hence the coloration in the lower extremities.

6. postnatal examination would be a bilirubin measurements, blood type and Rh determination in mother and infant,Direct Coombs testing in the infant, Hemoglobin and hematocrit values, Serum albumin levels, Measurement of end-tidal carbon monoxide in breath ( End-tidal carbon monoxide in breath (ETCO) may be used as an index of bilirubin production. Measurement of ETCO may assist in identifying individuals with increased bilirubin production and, thus, at increased risk of developing high bilirubin levels. Peripheral blood film for erythrocyte morphology, Reticulocyte count, Conjugated bilirubin. Liver function tests. Reducing substance in urine ( This is a useful screening test for galactosemia, provided the infant has received sufficient quantities of milk.) and thyroid function tests.

7. Initial therapy is phototherapy,  supplementary formula feedings. If phototherapy is unsuccessful in reducing the maximum bilirubin level, or if there are signs of kernicterus, exchange transfusion is indicated.

Prognosis is excellent if the infant receives treatment according to accepted guidelines.

An important note is that brain damage due to kernicterus remains a true risk, and the increased incidence of kernicterus in recent years may be due to the misconception that  jaundice in the healthy full-term infant is not hazardous and can be disregarded. Therefore parents should be educated about neonatal jaundice and receive written information prior to discharge from the birth hospital. The parent information leaflet should preferably be available in several languages.

[Doctoor]

Thanks Dr.Mustafa for your answer but I would like to comment on 2 questions:

Question 3: What are the important negative points with positive values in this case?

I meant negative points with positive values, the information we are given in this case contain things which are not found in our patient and this means to exclude other diagnosis, for example you mentioned cephalohematoma.
Although these points are not found in our patient but it's important like positive findings, because this help us to reach the diagnosis.

Question 5: What is the significance of jaundice appearing in the lower extremities in this case?

Neonatal jaundice first becomes visible in the face and forehead then gradually becomes visible on the trunk and extremities.
This cephalocaudal progression's importance is that Jaundice is disappearing especially in our case (physiological jaundice) within a weak.