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Dr Swati- Case of Hepatomegaly
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Dr Swati- Case of Hepatomegaly

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  • 1.  A three years old first order female child Born out of 2nd degree consanguineous marriage
  • 2. 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
  • 3.  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
  • 4. Parents wished to have second opinion atCHA; so the patient was brought to us
  • 5.  No history of: ◦ Fever, vomiting, diarrhoea ◦ Altered sensorium ◦ Breathlessness ◦ Jaundice, edema ◦ Change in bowel pattern , weight loss Birth history: ◦ Full term, normal delivered
  • 6.  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
  • 7. ◦ 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
  • 8.  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
  • 9.  How will I explain acidosis? What is my diagnosis here? How should I investigate this case further?
  • 10. APPROACH TO A CHILD WITH HEPATOMEGALY Let me examine him fully before I can say that this person is dead !!
  • 11. First be sure it ishepatomegaly andnot a pushed down liver !!!! Always assess Liver span Consistency Surface
  • 12. Acceptable span Age ( cm ) Pre term 4-5 infantsHealthy term 5-6.5 infants 1-5 years 6-75-10 years 7-910-16 years 8-10
  • 13.  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
  • 14.  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.
  • 15.  Presence of hypoglycemia and severe metabolic acidosis will further reduce the differential diagnosis to GSD and FAOD
  • 16.  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
  • 17.  Neonatal age group ◦ Pregnancy related ◦ Structural ◦ Metabolic ◦ Idiopathic
  • 18.  Paediatric age group ◦ Infective ◦ Metabolic ◦ Storage ◦ Structural
  • 19.  Acute presentation ◦ Any recent infection, fever, abdominal pain? ◦ Drug or toxin ingestion? ◦ History of recent travel?
  • 20. ◦ Keep in mind that Wilson’s disease could have an acute presentation.◦ Chronic liver disease may have acute decompensation
  • 21.  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 ?
  • 22.  Hepatomegaly with nonspecific symptoms of fever, malaise, nausea, abdominal discomfort: ◦ Infective aetiology likely ◦ Acute or chronic hepatitis ◦ Drug induced hepatitis ◦ Autoimmune hepatitis ◦ Wilson disease
  • 23.  Hepatomegaly with prominent or recurrent vomiting ± altered sensorium : ◦ Metabolic disorders ◦ Reye’s syndrome ◦ Fulminant hepatic failure ◦ Hypervitaminosis A
  • 24.  Hepatomegaly with neurological deterioration OR loss of developmental milestones OR hypotonia: ◦ Glycogen storage disorders ◦ Lysosomal storage disorders ◦ Peroxisomal disorders ◦ MPS
  • 25.  Hepatomegaly with neurologic or psychiatric symtoms : ◦ Wilson disease ◦ Porphyrias ◦ Urea cycle disorders ◦ Drug toxicity
  • 26.  Cataract : Galactosemia Microcephaly : Congenital TORCH infections Neuromuscular abnormalities in form of tremors or flaccidity : Lipid storage disorder Pruritis : Cholestasis
  • 27.  Asymmetric liver : Tumour, cyst, abscess Rock hard hepatomegaly : cirrhosis, tumour Coarse facial features : MPS Mongoloid facies : Zellweger syndrome
  • 28.  Enlarged kidneys : Polycystic disease, GSD, Tyrosinemia Arthritis with erythema nodosum : Inflammatory Bowel Disease Hemangioma : Hemangiomatosis of liver KF ring : Wilson disease
  • 29.  Hepatomegaly with splenomegaly with anemia ◦ Infections ◦ Haematological ◦ Malignancy ◦ Metabolic ◦ Collagen vascular disease
  • 30.  Hepatomegaly with splenomegaly, jaundice and anemia : ◦ Infective :Malaria, kala azar ◦ Hematological ◦ Wilson disease
  • 31.  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
  • 32.  Other system involvement ◦ Congestive cardiac failure ◦ Any systemic infection ◦ Haematological disorder ◦ Collagen vascular disease or Autoimmune disease ◦ Inflammatory bowel disease ◦ Cystic fibrosis ◦ Sarcoidosis
  • 33.  Huge hepatomegaly with preserved liver functions suggests ◦ storage disorder; at any age; or ◦ Reticuloendothelial hyperplasia
  • 34.  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!!
  • 35.  Minimum ◦ Complete blood counts ◦ Liver function tests including serum proteins ◦ Prothrombin time ◦ Hepatitis B serology ◦ Abdominal USG
  • 36.  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
  • 37.  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
  • 38. ◦ S.Cholesterol: 304◦ S.Uric acid: 10.81◦ Triglycerides: 1320◦ USG Abdomen: Hepatomegaly◦ Fundus: normal◦ Liver biopsy : marked elevation of glycogen in hepatocytes.
  • 39. Liver biopsy showing mosaicpattern, prominent cellmembranes and nuclearhyperglycogenation (HE stain);Distended hepatocytes withoutfibrosis
  • 40. GLYCOGEN STORAGE DISORDER TYPE 1
  • 41.  I = liver, Kidney, intestine II = Heart, Muscle III, V, VII = Muscle IV = Cirrhosis
  • 42. Gluco- Dietary neogenesis time glucose from amino acids MuscleBreakdown glycogenof hepatic during glycogen exercise Glucose rapid
  • 43.  Autosomal recessive Ia : Glucose-6-phosphatase deficiency (17q21) Ib : Translocase deficiency (11q23) Fasting hypoglycemia
  • 44.  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
  • 45. 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.
  • 46. FEATURE TYPE III TYPE IHypoglycemia + severeBleeding diathesis _ +Splenomegaly ± _Enlarged kidneys _ +Myopathy + _Elevated creatine kinases & ++ _transaminasesFasting ketogenesis ++ +Lactic acidemia _ +Alanine in plasma low highHyperuricemia _ +Little or no response to glucagon + +after fastNormal post prandial response to + _glucagonIncrease in blood glucose after + _galactose,fructose
  • 47.  Enzyme studies Molecular studies Glucagon studies
  • 48.  Lactic acidosis Hyperuricemia leading to tophaceous gout Hypertriglyceridemia leading to pancreatitis and xanthoma Nose bleed and petechiae due to platelet dysfunction
  • 49.  Hepatic Adenomas ( 2nd/3rd decade ) Polycystic ovaries ( fertility normal ) Renal disease, ESRD Osteopenia Pulmonary hypertension
  • 50.  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
  • 51.  Statins or Fibrate for hyperlipidemia Orthotopic liver transplantation Genetic counselling ◦ Carrier detection and prenatal diagnosis possible with DNA based diagnosis
  • 52.  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.
  • 53. THANK YOU