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INFANT WITH ACUTE LIVER FAILURE. 1.5 months, male, born of non consanguineous marriage, 1 st by birth order, birth weight 2.9kg, with h/o: Yellowish discoloration of eyes and skin since 3days Abdominal distension with increased frequency of stools since 2days Fever since 1day.

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infant with acute liver failure
INFANT

WITH

ACUTE LIVER FAILURE

slide2

1.5 months, male, born of non consanguineous marriage, 1st by birth order, birth weight 2.9kg, with h/o:

Yellowish discoloration of eyes and skin since 3days

Abdominal distension with increased frequency of stools since 2days

Fever since 1day

on enquiry
ON ENQUIRY:

Child apparently alright 3 days back when he developed;

  • Yellowish discoloration of skin and eyes with high colored urine
  • No clay colored stools.
  • Abdominal distension progressively increasing leading to respiratory distress.
  • Stool frequency 9-12 episodes of green stools/day
slide4

One episode of malena.

  • H/o fever, low to moderate grade for one day
  • No h/o prolonged neonatal jaundice,
  • No h/o seizures,
  • No h/o refusal to feed or decreased urinary output.

Birth h/o: Uneventful

Development h/o : Normal

Family & Past history: Not significant

general examination

GENERAL EXAMINATION

Drowsy, afebrile;

HR=124/min, pulses well felt;

RR=58/min, subcostal retractions+;

SPO2=98 on room air

BP= 74/46 mmHg, HGT -30 mg/dl

Anthropometry: Weight -4.2 kg,10thcentile,

Length -52cms, 5thcentile.

Icterus+++,Pallor+,

No dysmorphic features.

No cataracts.

No skin changes.

systemic examination
SYSTEMIC EXAMINATION

P/A:

  • Distended, dilated abdominal veins, umbilical hernia+,
  • Liver 2cm, span 8 cm, firm, sharp margins, nontender.
  • Spleen 3 cm,firm.
  • Fluid thrill +

RS: Air entry b/l equal

CVS: S1S2 normal.

CNS : Drowsy,

tone, reflexes normal.

impression
IMPRESSION

Hyperacute liver failure unlikely due to infection alone;

D/D:

  • In born error of metabolism precipitated by an infection.
  • TORCH Infection – but no h/o antenatal illness or prematurity or IUGR, Normal at birth, until 3 days before admission
initial management

INITIAL MANAGEMENT

O2 by hood

I.V Fluids to maintain Euglycemia

Blood Cultures collected

1st dose antibiotics given

InjVit K i.v

further management

FURTHER MANAGEMENT

For Fulminant hepatic failure

Started i.v NAC, i.v L-ornithine, L-aspartate, GDR(glucose delivery rate) increased,

PRBC Transfusion, FFP Transfusion.

Sensorium deteriorated with worsening LFTs,

Hypoglycemia inspite of increasing GDR.

Shifted to IPCU

investigations for etiological diagnosis

INVESTIGATIONS FOR ETIOLOGICAL DIAGNOSIS

SEPSIS CRP Negative,Blood Cultures negative.

TORCH Titres Negative

HLH(HemophagocyticLymphoHistiocytosis )

normalferritin, bone marrow- no hemophagocytes.

slide13
Ctd..
  • IEM:

TYROSINEMIA  AFP 400ng/ml (normal)

GALACTOSEMIA 

Urine Thin Layer Chromatography galactose+,

Total Galactose High,

GALT Enzyme level Low.

slide14

On 9th day—

Child developed increasing respiratory distress,

Persistent hypoglycemia on GDR of 14,

Intubated & ventilated..

Child succumbed to his disease.

conclusion
CONCLUSION

1.5 mnths old infant with

  • Hyperacute liver failure
  • Direct hyperbilirubinemia
  • Persistent hypoglycemia inspite of high GDR.
  • Metabolic Acidosis
  • Urine Thin Layer Chromatography - Galactose+,
  • Total Galactose High,
  • GALT Enzyme level Low.
  • Diagnosed as GALACTOSEMIA