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Dr Swati- Case of Hepatomegaly
1.
2. A three years old first order female
child
Born out of 2nd degree consanguineous
marriage
3. Presented at 4 months, at another
hospital, with chief complaints of
Convulsions
Gradual distension of abdomen; which
was found to be due to huge liver
4. Huge hepatomegaly without splenomegaly
was the only relevant finding on
examination
Hypoglycemia, blood sugar 40 mg/dl
Hemogram, Renal function tests and
Liver function tests normal
Subsequently she had 8-10 admissions
for severe metabolic acidosis, with
hypoglycaemia
Liver biopsy done
5. Parents wished to have second opinion at
CHA; so the patient was brought to us
6. No history of:
◦ Fever, vomiting, diarrhoea
◦ Altered sensorium
◦ Breathlessness
◦ Jaundice, edema
◦ Change in bowel pattern , weight loss
Birth history:
◦ Full term, normal delivered
7. Development history :
◦ Sat without support at the age of 1
year
◦ Walked unassisted at the age of 2
years
On examination:
◦ Weight : 14 kg; Height: 84 cm (< 3rd
percentile)
◦ Doll like face, protuberant abdomen
◦ No
pallor, cyanosis, clubbing, lymphadenopa
thy, icterus
8. ◦ P/A: huge hepatomegaly almost
reaching right lower quadrant; no
splenomegaly
◦ CNS: Normal muscle tone and
power, normal deep tendon reflexes
◦ Other systems: NAD
◦ Fundus : NAD
9. Differential diagnosis?
Is this is a routine chronic liver disease?
Am I dealing with GSD or fatty
oxidation disorder where we get
hypoglycaemia, Hepatomegaly, and
metabolic acidosis
10. How will I explain acidosis?
What is my diagnosis here?
How should I investigate this case
further?
11. APPROACH TO A CHILD WITH
HEPATOMEGALY
Let me examine him fully before I can
say that this person is dead !!
12. First be sure it is
hepatomegaly and
not a pushed down
liver !!!!
Always assess
Liver span
Consistency
Surface
13. Acceptable span
Age
( cm )
Pre term
4-5
infants
Healthy term
5-6.5
infants
1-5 years 6-7
5-10 years 7-9
10-16 years 8-10
14. Size of the liver
Age of the patient at time of presentation
Presenting symptoms; presence of
metabolic symptoms
Other system involvement
Liver damage:
Hepatocellular, cholestasis, none
15. For example; in this particular case one
may just consider SIZE of the liver
which was huge.
Very limited causes of huge
hepatomegaly at this age.
Most likely is some kind of storage
disorder; GSD, LSD or stretching a little
bit FAOD.
16. Presence of hypoglycemia and severe
metabolic acidosis will further reduce
the differential diagnosis to GSD and
FAOD
17. On the other hand, if size of the liver is
moderate or mild, differential diagnoses
could be altogether different.
Since there could be many causes to
consider; good history and physical
examinaton are very essential
18. Neonatal age group
◦ Pregnancy related
◦ Structural
◦ Metabolic
◦ Idiopathic
19. Paediatric age group
◦ Infective
◦ Metabolic
◦ Storage
◦ Structural
20. Acute presentation
◦ Any recent infection, fever, abdominal
pain?
◦ Drug or toxin ingestion?
◦ History of recent travel?
21. ◦ Keep in mind that Wilson’s disease
could have an acute presentation.
◦ Chronic liver disease may have acute
decompensation
22. Chronic presentation
◦ Is there a significant family history ?
◦ Are there any metabolic complications
?
◦ Is there any FTT
◦ Any evidence of liver cell dysfunction?
◦ Any evidence of portal hypertension ?
23. Hepatomegaly with nonspecific
symptoms of
fever, malaise, nausea, abdominal
discomfort:
◦ Infective aetiology likely
◦ Acute or chronic hepatitis
◦ Drug induced hepatitis
◦ Autoimmune hepatitis
◦ Wilson disease
24. Hepatomegaly with prominent or
recurrent vomiting ± altered sensorium :
◦ Metabolic disorders
◦ Reye’s syndrome
◦ Fulminant hepatic failure
◦ Hypervitaminosis A
25. Hepatomegaly with neurological
deterioration OR loss of developmental
milestones OR hypotonia:
◦ Glycogen storage disorders
◦ Lysosomal storage disorders
◦ Peroxisomal disorders
◦ MPS
26. Hepatomegaly with neurologic or
psychiatric symtoms :
◦ Wilson disease
◦ Porphyrias
◦ Urea cycle disorders
◦ Drug toxicity
27. Cataract : Galactosemia
Microcephaly : Congenital TORCH
infections
Neuromuscular abnormalities in form of
tremors or flaccidity : Lipid storage
disorder
Pruritis : Cholestasis
28. Asymmetric liver : Tumour, cyst, abscess
Rock hard hepatomegaly :
cirrhosis, tumour
Coarse facial features : MPS
Mongoloid facies : Zellweger syndrome
29. Enlarged kidneys : Polycystic
disease, GSD, Tyrosinemia
Arthritis with erythema nodosum :
Inflammatory Bowel Disease
Hemangioma : Hemangiomatosis of liver
KF ring : Wilson disease
30. Hepatomegaly with splenomegaly with
anemia
◦ Infections
◦ Haematological
◦ Malignancy
◦ Metabolic
◦ Collagen vascular disease
31. Hepatomegaly with
splenomegaly, jaundice and anemia :
◦ Infective :Malaria, kala azar
◦ Hematological
◦ Wilson disease
32. Isolated hepatomegaly w/o associated
features mentioned above:
◦ Hepatic tumors ( h/o weight loss)
◦ Choledochal cyst
◦ Caroli disease
◦ Hepatic outflow obstruction: Budd-
Chiari syndrome
◦ Niemann-Pick type B
33. Other system involvement
◦ Congestive cardiac failure
◦ Any systemic infection
◦ Haematological disorder
◦ Collagen vascular disease or
Autoimmune disease
◦ Inflammatory bowel disease
◦ Cystic fibrosis
◦ Sarcoidosis
34. Huge hepatomegaly with preserved liver
functions suggests
◦ storage disorder; at any age; or
◦ Reticuloendothelial hyperplasia
35. Remember!!
Good history, aided by meticulous
examination will give clue to the
underlying cause, more than any single
investigation
Let me see if I
can find out
what is wrong
with you!!
36. Minimum
◦ Complete blood counts
◦ Liver function tests including serum
proteins
◦ Prothrombin time
◦ Hepatitis B serology
◦ Abdominal USG
37. As and when required:
◦ Serology for Hepatitis A-E
◦ Work up for infections like typhoid, TB
◦ Serum ceruloplasmin,24 hour urinary
copper, K.F. ring
◦ Ferritin
◦ ANA, anti SMA, anti LKM1
◦ Metabolic work up and specific testing
for peroxisomal and lysosomal storage
disorders
◦ Liver biopsy
38. Key points in history and examination
Investigations :
◦ Hb: 9.6 Total count:7620
◦ Platelet count: 4.1 lakh
◦ RFTs: normal
◦ LFTs ( SGPT, S.Protein, PT, S.Bil ):
normal
◦ ABGA: normal RBS: 88
39. ◦ S.Cholesterol: 304
◦ S.Uric acid: 10.81
◦ Triglycerides: 1320
◦ USG Abdomen: Hepatomegaly
◦ Fundus: normal
◦ Liver biopsy : marked elevation of
glycogen in hepatocytes.
40. Liver biopsy showing mosaic
pattern, prominent cell
membranes and nuclear
hyperglycogenation (HE stain);
Distended hepatocytes without
fibrosis
46. 3-4 months / may present in neonatal
period
Doll like facies, short
stature, hepatomegaly, renomegaly
Spleen and heart normal
Biochemical hallmarks
◦ Hypoglycemia, lactic
acidosis, hyperuricemia, hyperlipidemia
47. Type I Type III
Failure of Failure of
gluconeogenesis & glycogenolysis.
glycogenolysis.
Deficiency of Deficiency of
Glucose-6- Debrancher enzyme
phosphatase
Formation of
no formation of glucose from other
glucose either from
glycogen or from sugars is normal
other sugars.
48. FEATURE TYPE III TYPE I
Hypoglycemia + severe
Bleeding diathesis _ +
Splenomegaly ± _
Enlarged kidneys _ +
Myopathy + _
Elevated creatine kinases &
++ _
transaminases
Fasting ketogenesis ++ +
Lactic acidemia _ +
Alanine in plasma low high
Hyperuricemia _ +
Little or no response to glucagon
+ +
after fast
Normal post prandial response to
+ _
glucagon
Increase in blood glucose after
+ _
galactose,fructose
50. Lactic acidosis
Hyperuricemia leading to tophaceous
gout
Hypertriglyceridemia leading to
pancreatitis and xanthoma
Nose bleed and petechiae due to platelet
dysfunction
52. Dietary advice: Uncooked corn starch
meal
◦ < 2 yrs : 1.6 gm/kg every 4 hrs
◦ > 2 yrs : 1.75-2.5 gm/kg body weight every 6
hrs
Calcium and Vitamin D supplementation
Allopurinol for hyperuricemia
Role of ACE inhibitors
53. Statins or Fibrate for hyperlipidemia
Orthotopic liver transplantation
Genetic counselling
◦ Carrier detection and prenatal
diagnosis possible with DNA based
diagnosis
54. Guarded
Early diagnosis and effective treatment
have improved the outcome
Renal disease and formation of hepatic
adenomas with potential risk for
malignant transformation remain serious
complications.
