Cholestasis case

NEONATAL CHOLESTASIS:CASE PRESENTATION

- Dr. Aditi Shah

HISTORY:

•Onset of jaundice, progression of jaundice- in full term, bilirubinrises to a peak of 6-8 by day 3 and then falls, upto 12mg/dl is physiologic.In premature, peak=10 to 12 on day 5, upto 15 is physiologic

•Colour of urine

•Colour of stool

•Sick or well baby?, NICU stay?- sick = IEM, hepatitis

•Blood group of mother and baby- abo or Rh incompatibility

•Problems at time of delivery- caput/ cephalhematoma- storedblood in closed spaces

•Breastfed/ top fed?- breast milk jaundice , breast feeding jaundice

•

Prepared by Dr Aditi Shah for www.oscepediatrics.com

History …

•Any worsening noticed following initiation of feeding, symptom freeperiod? – IEM- eg: after breast feed= galactosemia; after top feed with soy formula=fructose intolerance

•Feeding problems, lethargy, decreased activity, vomiting, convulsions,consanguineous marriage, newborn deaths in family, abnormal smell of urine – IEM

•Tyrosinemia (Type I): (presentation 2- 6 months…. Rare before 1 month ofage) Hepatic crisis following mild illness. “Boiled cabbage” smell due to methioninemetabolite. Urinary succinylacetone diagnostic (and liver biopsy / FAH enzyme)treatment with NTBC (Nitisinone) & liver Transplant. Diet restriction ( Nuts etc.)

•Phototherapy/ any other treatment

•h/o jaundice in family members- Criggler najjer, Gilberts, Rotors, Dubinjohnsons

•h/o any blood disorders in family- heriditary spherocytosis

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Other History

h/o abdominal distension – hepatomegaly, ascites following liver cell failure

•any problems in pregnancy- fever, rash, thyroid disorders, diabetes, HELLPsyndrome with jaundice

•h/o noticing any abnormal facial features

•h/o constipation, poor feeding, large tongue, umbilical hernia- congenitalhypothyroidism

•Delayed passage of meconium / meconium plug syndrome – cystic fibrosis.

•feeding history

•family history

•immunization history

•socioeconomic history

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GENERAL EXAMINATION:

•Vitals

•well looking/ sick looking, crying, lethargic

•icterus- colour and upto where

no pallor, cyanosis, (lymphedema- non pitting- allagilles)

•anthropometry

abnormal facial features-

•1.zellwegers

•2.hypothyroidism

•3.downs

•4. allagilles

•Signs suggestive of congenital hypothyroidism

•Palpable spleen in father/ mother

• Eyes- normal, no e/o cataract

• Metabolic diseases (e.g. galactosemia, fructosemia, hemochromatosis,tyrosinemia)

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Abdominal Examination

INSPECTION:

right hypochondrium appears distended, no scars sinuses ordilated veins, no visible pulsations, umbilicus is central andnormal

PALPATION:

liver- size, consistency, surface, edge, tenderness, bruit, liverspan

PERCUSSION:

liver dullness, e/o free fluid. spleen

AUSCULTATION :

bowel sounds

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COMMON QUESTIONS:

1.Urine – high coloured + clay coloured stool = obstructive jaundice =cholestasis

2.Urine – high coloured + normal colored stool =Neonatal hepatitis &intravascular hemolysis (DIC, HUS, TTP, malaria, trauma, G6PD).

3.Urine – normal + stool normal = extravascular hemolysis (hereditaryspherocytosis, sickle cell, thalassemia).

4.In galactosemia : test for urine reducing substances : CLINITEST in lab =detects glucose and galactose ( fructose not detected)

If clinitest +ve, check urine glucose by benedicts= if negative, it means reducingsubstance is galactose , and then do confirmatory test for galactosemia

Strip test for sugar is also specific for glucose as uses glucose oxidase.

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COMMON QUESTIONS:

•Definition

Conjugated hyperbilirubinemia in a neonate is defined as a serum direct/conjugated bilirubinconcentration greater than 1.0 mg/dL if the total serum bilirubin (TSB) is <5.0 mg/dL or

greater than 20 percent of TSB if the TSB is >5.0 mg/dL

5. Stages through regular sleep cycle in a newborn :

•Stage 1= eyes closed, regular respiration, no movement

•Stage 2 = eyes closed, irregular respiration, no movements

•Stage 3= eyes open, no gross movement

•Eyes open, gross movement, no crying

•Eyes open or closed, crying.

Normal predominant stage= 3

6. causes of unconjugated hyperbilirubinemia

7. causes of conjugated hyperbilirubinemia

8. biliary atresis- best outcome if treated within 45 to 60 days of life

9. Breast milk vs Breast feeding jaundice and Mx of the same.