Dr. Anand Pandit*
Honorary Professor & Director Dept. of Pediatrics & Neonatology KEM Hospital, Pune 411011 *
Neonatal cholestasis syndrome (NCS) has now replaced Indian Childhood Cirrhosis (ICC) as the leading cause of chronic liver disease in children in India. This change is because of a dramatic decline in incidence of ICC in recent years and a modest increase in the numbers of NCS presenting to hospitals. NCS is the term used to describe obstructive jaundice (conjugated hyperbilirubinemia) any time in early infancy. NCS includes conditions ranging from biliary atresia to idiopathic neonatal hepatitis. Many other specific infective, genetic and metabolic diseases also present with cholestasis in early infancy.

Unfortunately despite being so common, NCS has received scant attention in our country. What are the cases of NCS in India? Do our diverse epidemiological and socio-cultural factors modify the clinical presentation? Is the outcome similar to descriptions from developed countries? The aim of this presentation is to address these questions.

Clinical Presentation:
There appear to be two distinct clinical patterns of NCS:
  1. NCS - Early Neonatal Pattern
  2. NCS - Post Neonatal (Infantile) Pattern

NCS - Early Neonatal Pattern
Conjugated hyperbilirubinemia is always pathological. The neonate is particularly vulnerable to cholestasis from a variety of perinatal insults (infectious, metabolic or toxic) due to impaired intraductal solubility of bile salts. Sometimes, in the sick neonate, there is more than one insult, and the presentation includes hepatosplenomegaly, bleeding manifestations and multiorgan dysfunction. Early evaluation is important, as some of these conditions such as sepsis and malaria are amenable to specific therapy. Awareness of the early neonatal form of NCS is particularly important for the increasing numbers of sick premature babies, now managed in Neonatal Intensive Care Units (NICU).

NCS - Post Neonatal (Infantile) Pattern
In some babies with NCS, jaundice is first noticed between 4-68 weeks of life though in many it has continued since 'physiological jaundice'. The urine is dark yellow or brown but may be lighter because of the high urinary volume in infants. Stools are light yellow green to chalky white depending on the degree of cholestasis. Liver and spleen are usually enlarged. Many a times, however, these features are ignored and the baby is brought to the hospital, later with complications such as bleeding, ascites, hypoglycemia or malabsorption.

More than 80% of babies with NCS belong to two major diagnostic categories namely, (i) Biliary Atresia (BA) and (ii) Neonatal Hepatitis (NH). The urgent clinical concern is the early definitive diagnosis of BA as the prognosis in BA is said to be favorable only if corrective surgery is performed before the age of 8-12 weeks. Unfortunately, none of the clinical features are really discriminatory and a scheme of investigations is necessary in NCS.

Diagnostic Approach
As immediate consideration in NCS is the exclusion of treatable infectious such as septicemia, urinary tract infection, syphilis, malaria, toxoplasmosis and tuberculosis all of which can cause cholestasis. It is also important to consider metabolic causes of NCS, such as galactosemia and tyrosinemia. A thorough prenatal, perinatal and family history with careful clinical (and ophthalmic) evaluation gives important clues in the diagnosis of rare causes of NCS, such as alpha-1 antitrypsin deficiency (alpha 1 ATD) and chronic hypoplasias. A practical protocol of investigations to differentiate BA from NH is summarized in Table 1.
Biliary Atresia
The standard procedure in the correction of BA the world over, is a Kasai hepatoportoenterostomy or one of its modifications. Survival of 80% or more if operated before the age of 6 to 8 weeks which falls to less than 30% if the operation is delayed beyond 12 weeks. The treatment for failed Kasai procedure is liver transplantation. BA is currently the commonest indication for pediatric liver transplant with survival figures approximating 80% at 1 year, and 70% at 5 years in leading transplant centers.

Neonatal Hepatitis
On the other hand, the outcome in NH is much more optimistic. Up to 60% of babies with idiopathic NH recover completely after a variable period of cholestasis without any specific therapy. A few (up to 10%), die acutely of bleeding manifestations or fulminant hepatic failure and about 30% progress to liver cirrhosis and death due to chronic liver disease. Unfortunately there are no indicators to predict prognosis. There is no specific therapy for genetic and metabolic diseases such as alpha 1 - ATD and biliary hypoplasia. Liver transplantation has considerably changed the outlook in these conditions too.

Supportive Medical Management
Nutritional Support with supplementation of fat soluble vitamins A, D, E and especially K (to prevent hemorrhage) is necessary in cholestasis. Calorie and fat dense formulae, enriched with MCT (coconut oil) are often required to promote growth.

Management of cholestasis - Ursodeoxycholic acid (UDCA), Phenobarbitone, cholestyramine, rifampicin, Ondansetron, naloxone are some of the agents being tried for treatment of pruritis.

Table 1 - Scheme of Investigations in the Diagnosis of Neonatal Cholestasis Syndrome

  • Hematology and Biochemistry
  • Screen for infections
  • Bacteriology
  • Screen for metabolic disease
  • Abdominal ultrasonography
  • Tc 99 m Mebrofenin Radionuclide scan
  • Liver biopsy
  • Operative Cholangiography

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