Neonatal jaundice and

a primer of metabolic diseases

Dr. Manoj K Ghoda

GastroenterologistAhmedabad.

Neonatal jaundice

• 60% of term babies have jaundice

• 80% of preterm babies have jaundice

Neonatal jaundice

Risk factors for developing neonatal jaundice

• Prematurity• Breast feeding: three times more likely to occur in

breast-fed than in formula-fed infants, and progression to severe hyperbilirubinemia is six times more likely.

• Newborn infants with a sibling who had jaundice are at increased risk

• Boys are also at increased risk.

Neonatal jaundice

What is a non-physiological jaundice ?• Jaundice detected within 24 hours• If bilirubin rise at a rate of >0.5 mg/dL per hour

or 5 mg/dL per day, • If total bilirubin exceed 15 mg/dL in a full-term

infant or 10 mg/dL in a preterm infant, • If evidence of acute hemolysis, or • If Hyperbilirubinemia persists beyond 10 days in

a full-term infant or 21 days in a preterm infant.

Neonatal jaundice

A child was referred for Jaundice.

His bilirubin was 11mg.

Dr. Manoj K Ghoda

Neonatal jaundice

• An 11 month old child was referred for• Jaundice.• Twin also affected• From the age of 5 months• His bilirubin was 11mg. (conjugated=9mg.)

• His SGPT was 346• His ALP was 1178• His GGT was 746• PT 21/13 sec.• Albumin was 3.4g/dl

Dr. Manoj K Ghoda

Neonatal jaundice

His liver was just palpable

His spleen was not palpable

Dr. Manoj K Ghoda

Neonatal jaundice

• Genetic probing

• Pregnancy history

Dr. Manoj K Ghoda

Neonatal jaundice

Age of onset

• Early Infancy

• Late infancy

• Childhood

Dr. Manoj K Ghoda

Neonatal jaundice

Type of hyperbilirubinemia

• Conjugated,

• Unconjugated

Dr. Manoj K Ghoda

Neonatal jaundice

Unconjugated Hyperbilirubinemia

• Without hemolysis?

• With hemolysis?

Dr. Manoj K Ghoda

Neonatal jaundice

Unconjugated hyperbilirubinemia

• Without hemolysis• Prematurity• Breast milk jaundice• Criggler-Najjar syndrome• Neonatal hypothyroidism• Galactosemia

Dr. Manoj K Ghoda

Neonatal jaundice

Pattern of enzyme rise

• Hepatitic,

or

• Cholestatic

Dr. Manoj K Ghoda

Neonatal jaundice

Status of critical liver functions

• Compensated

or

• decompensated

Dr. Manoj K Ghoda

Neonatal jaundice

Conjugated Hyperbilirubinemia

• Without early decompensation• EHBA• Toxoplasma• Rubella• Idiopathic NIH• Storage disorders• Cholestatic syndromes

Dr. Manoj K Ghoda

Neonatal jaundice

Conjugated Hyperbilirubinemia

• With early decompensation• Galactosemia• Urea cycle defects• Fatty oxidation defects• Hepatorenal tyrosinemia• Hereditary fructose intolerance

Dr. Manoj K Ghoda

Neonatal jaundice

• Significant Hepatomegaly?

• Significant Hepatosplenomegaly?

Dr. Manoj K Ghoda

Neonatal jaundice

• Associated musculoskeletal defects?

• Associated cardiac defects?

• Associated pulmonary defects?

Dr. Manoj K Ghoda

Prominent Hypoglycemia?

• GSD

• FAO

Neonatal jaundice

Investigations

• CBC,Indices, retics, peripheral smear

• Bilirubin, SGPT,ALP, GGT, PT, Proteins

• Glucose, Ammonia,

• Save serum

Neonatal jaundice

Investigating a case of Neonatal Jaundice Conjugated Hyperbilirubinemia • TORCH• Neonatal TSH• Total Galactose• Glucose• Ammonia• Save serum

Dr. Manoj K Ghoda

Neonatal jaundice

Conjugated Hyperbilirubinemia

• Urine routine and micro

• Urine for metabolic screening including reducing substances and ketones

Dr. Manoj K Ghoda

Neonatal jaundice

Investigating a case of Neonatal Jaundice Conjugated Hyperbilirubinemia

• USG on empty stomach looking for • gall bladder status, • bile duct, • IHBR, • portal vein • liver size and echo-texture and • spleen size

Dr. Manoj K Ghoda

Neonatal jaundice

Investigating a case of Neonatal Jaundice

Conjugated Hyperbilirubinemia

• Liver biopsy

• HIDA scan

Dr. Manoj K Ghoda

Neonatal jaundice

Treatment

• Glucose, oral or IV

• Stop Galactose as soon as the sample is taken

• Blind antibiotics till no evidence of infection

• Vit. K

• Phenobarbitone 3-5mg/Kg Dr. Manoj K Ghoda

Neonatal jaundice Galactosemia

• Prevalent in local population• Can cause both unconjugated and conjugated

hyperbilirubinemia• E.coli septicemia• Early decompensation• Cataract is usually not present• Reducing substances, total galactose and Beutler’s

florescence• Even a few hours fasting can give false negative

Dr. Manoj K Ghoda

Neonatal jaundice Mucopolysaccharidosis

• Locally prevalent• Dysmorphism is not always present• Hepatosplenomegaly is out of proportion to

the level of jaundice• Urinary metabolic screening could pick it up

but false positives are high

Dr. Manoj K Ghoda

Neonatal jaundice

Urea cycle defects• Prevalent locally• Recurrent unexplained vomiting• Respiratory alkalosis in neonates• Hyperammonemia and metabolic

acidosis• encephalopathy• Hepatocellular dysfunction

Dr. Manoj K Ghoda

Neonatal jaundice

Hereditary fructose intolerance

• Jaundice, hepatomegaly, vomiting, lethargy, irritability, and convulsions.

• Prolonged clotting time, hypoalbuminemia, elevation of bilirubin and transaminases, and proximal renal tubular dysfunction.

• Reducing substance in the urine during an attack.

• Prenatal diagnosis possible from either amniocentesis or chorionic villi

Dr. Manoj K Ghoda

Neonatal jaundice and

a primer of metabolic diseases Conclusion ?

• All pediatricians are capable of arriving at a broad diagnosis

• Many diseases are treatable• Many more could be found which may be

treatable• Knowledge obtained thus could be utilised in

the management of other neonatal and pediatric illnesses

Dr. Manoj K Ghoda

Neonatal jaundice and

a primer of metabolic diseases

I want all of you and your colleagues to join in this “YAGN”

Dr. Manoj K Ghoda

Neonatal jaundice and

a primer of metabolic diseases

I thank all friends, Dr. Jani and Dr. Anil Ved

AAbhar

Dr. Manoj K Ghoda

Guidelines for hyperbilirubinemia

Age Consider photo

Give photo

Consider exchange

Give exchange

24-48 hrs.

>= 12 >= 15 >= 20 >= 25

48-72 >= 15 >= 18 >= 25 >= 30

>72 >= 17 >= 20 >= 25 >= 30