Pediatric history taking - case of Hepatosplenomegaly

This is a pediatric history taking and clinical examination format for a child presenting with hepatosplenomegaly and few other symptoms like jaundice, anemia, bleeding, etc. There are some handy tips alongside. This should be useful for the observed station in OSCE exam also.

Table of Content

  • General tips
  • HOPI
  • Etiology focused history
  • Past, Family, Drug, Social, Sleep history
  • Signposting • viva questions
  • Systemic examination • Other systems • viva questions
  • Differential diagnosis
  • Investigation plan • Labs • Imaging • Procedure • Viva questions
  • Outline of Management • Viva questions

General tips

• Before the case presentation wash your hands and don PPE if the situation demands, children with hepatosplenomegaly can be immune suppressed and this is a good practice.

• Make sure to maintain a comfortable distance from the child at the beginning of the consultation, whilst trying to build rapport with the family as a whole. Young children generally feel more comfortable and secure in their parent’s arms.

• Observe how the child is playing and interacting with any siblings and parents/carers so that you can mention that in your general examination. Probably this is the first thing examiner will notice or try to get a feel of.

• Introduce yourself including your name and role. Explain to the child (if older), sibling, and parents that you are going to start the presentation. Make sure you are preferably standing on the right and keep a comfortable distance.

Start with demographic details

Confirm the child’s name and date of birth, age, ethnicity, and short address to the examiner. Mention how to contact family in emergencies. Mention who has given you the history.

Age is a piece of key information and your leading question depend largely upon this.

Presenting complaints

Most probably this will be one or more of the following. ( Sample Presenting complaints in chronology.)

• Yellow discoloration of eyes since 2 months
• Abdominal distension for 30 days
• Abdominal pain for 20 days
• Vomiting for 1 week
• Fever for 3 days

History of presenting complaints

For describing the presenting complaints, you can use pneumonic 'OPERATES'.

  • O (onset)
  • P (progress)
  • E (exacerbating factors)
  • R (relieving factors)
  • A (associated symptoms)
  • T (timing)
  • E (previous episodes)
  • S (severity)
  • + (functional aspects)

A. Yellow discoloration of eyes

• Onset - when did it occur?
• Duration - how long is it there?
• Any associated factors like yellow discoloration of urine, clay-colored stool

B. Abdominal pain

• Onset: since when it started?
• What is the site of maximum pain?
• Where does it radiate?
• Character - How does the pain feel like?
• How Severe?
• Timing or any specific conditions which aggravate or alleviate the pain?
• Has the pain changed over time?

C. Abdominal distention

• Duration - since when there is a swelling?
• Progression - rapid vs slow?
• Any associated symptoms like pain?

D. Vomiting

• Time since started?
• Number of episodes daily or weekly?
• Type - is it bilious vs non-bilious looking
• Projectile vs non-projectile in nature
• What is the usual content? does it contain blood sometimes? • Associated symptoms like loose stools.

Enquire about other symptoms if parents or carer has missed any major complaints like increasing paleness (Pallor), bleeding in any form, or red spots (petechiae, purpura, ecchymoses) before moving on to the next section.

Etiology focused history from leading questions

Our aim here is not only to find out the clues for diagnosis but also, the complication these symptoms have created. Say for example asking "Is the breathing appears more labored recently", this will tell you how severe the ascites is (if any) in your case or might tell you that the child may be acidotic.

So 3 things we need to deduce from leading questions or negative history.

  1. Clues to confirm our diagnosis ( which we might know often. wink-wink).
  2. The point we can put to rule out other differentials in the viva. 
  3. Know how severe the problem is or any complication so far developed so as to tailor-make our treatment plan.

Few usual point to enquire

  1. H/O Koch’s/ Koch’s contact or swelling of PPD given in hospital.
  2. H/O chronic fever with rigors for Chronic malaria/ Kala Azar.
  3. H/O jaundice in the past, hematemesis/melena/hematochezia / dilated veins on the abdominal wall to rule out portal hypertension and varices.
  4. H/O umbilical catheterization/ History /s/o umbilical sepsis in the neonatal period for Extrahepatic portal hypertension.
  5. H/O altered sensorium/ unconsciousness/ coma/ convulsions to rule out hepatic encephalopathy.
  6. H/O blood transfusions, other sibs affected for Hepatitis B/ Hepatitis C / Chronic hemolytic anemia.
  7. H/O abnormal bruising, bleeding, red spots on skin ( petechiae, purpura/ ecchymoses) to rule out leukemia/ hypersplenism.
  8. H/O breathlessness/ edema feet/ increased precordial activity/refusal to feed to rule out CCF.
  9. H/O delayed milestones/myoclonic convulsions/incoordination to rule out storage disorder-Niemann-Pick disease, Gauchers disease.
  10. H/O defective vision/ hearing for Mucopolysaccharidosis, Osteopetrosis.
  11. No h/o fever/rash in mother during pregnancy for ruling out an intrauterine infection.
  12. No h/o fractures for Osteopetrosis.
  13. Is there any abnormal bruising, bone pain, or history of frequent infections?
  14. Enquire about recent changes in handwriting or sleeping habits for hepatic encephalopathy.

Past Medical history

Check for the following. This will help in determining etiology, severity, like repeated admission for infections, repeated procedures like ascitic tap

• Transfusions
• Recurrent infections.
• Contact with jaundiced patients.
• History of hospitalization in past.
• What common drugs can cause hepatitis

Past Surgical history

Any history of surgery like Kasai procedure if relevant to your case.

Drug history

Enquire about exposure to any hepatotoxic toxin or drug. If you mention any drug, don't forget dose and frequency, and tolerance otherwise it will be incomplete

Mention if any allergies

Family history

• Ask if any Sibling with similar complaints for infective hepatitis.
• Check the history of Blood transfusion in sibling or parent for hemolytic anemias.
• Get family history of malignancies, connective tissue disorders, inherited diseases like storage disorders, cardiac diseases.

Other relevant histories in case of hepatosplenomegaly

  1. Travel history - any recent travels for infectious disease which can cause hepatitis. (Malaria visceral leishmaniasis etc)
  2. Sleep history - is important in this case for hepatic encephalopathy.
  3. Psychosocial history - Relation and attachment between parents, child-teacher relationship for altered behavior. who looks after the child etc
  4. Developmental history - loss of developmental milestones (storage diseases, chronic infection, or immunodeficiency), document all 4 domains whether appropriate for age of delayed or regressed.
  5. Immunization history - is important for tuberculosis.
  6. Dietary information - including patterns of feeding and bowel movements. Do mention fluid intake and urine output if not mentioned in the leading question, this holds special importance in cases with vomiting and in fact any chronic diseases which may cause loss of appetite. This might explain the weight loss, you often get in such kids.
  7. Perinatal history - Mention If appropriate, start with history from birth, otherwise exclude it.

Signposting

Mention what you have covered so far and what you could understand from it in short. For example. I have so far talked about the history, from which these are my concerns which possibly point toward... ( Do not mention diagnosis unless it is very obvious but gross possibilities and systems involved etc). Next, I’d like to discuss the examination and my findings.
Also mention if you had any genuine difficulties you faced during the exam beforehand. This will prevent the unnecessary requirement to give an explanation latter”

We often ignore one of the important component of history taking which is Understanding how the children, parents, or carers perceive the disease, their concerns, and expectations.

This helps immensely in managing the disease and often may provide clues also. Mention a few sentences about these before moving on to the physical examination. This is especially important in cases without many physical signs to explore, which is not uncommon even in exam cases.


Some Viva questions could be

  1. Extrabdominal manifestation of liver disease. 
  2. Grades of encephalopathy Early signs of encephalopathy.
  3. Bilirubin pathway.
  4. Difference between hematemesis, Malena, and hematochezia? 
  5. Why abdominal distention can cause dyspnoea.
  6. What are the inherited disorders which can cause this presentation in this age group, can ask inheritance of those disorders? 
  7. Which hemolytic anemia has Rapid onset of anemia, hyperbilirubinemia with splenomegaly and hepatomegaly? 
  8. How to differentiate between acute vs chronic liver disease. 
  9. What can cause massive hepatomegaly without hepatocyte dysfunction (storage disorder)
  10. Name a few hepatotoxic drugs.

A. General Physical examination

Start with the overall appearance, alertness, activity level, and interaction to give an overall feel. (This will help also help in determining hepatic encephalopathy.

Severe anemia secondary to bleeding due to coagulopathy, thrombocytopenia, can also cause apathy irritable behaviors. Also consider pruritis, pain for the irritable nature.

  1. Presence or absence of pallor, icterus, cyanosis, clubbing, significant lymphadenopathy, edema feet, increased JVP.
  2. Vital signs. Notice if any wide blood pressure due to liver failure.
  3. Anthropometry measurements with percentiles. Classify the degree of malnutrition.
  4. Abdominal girth for ascites, mass.
  5. Look for platynychia / koilonychia, petechiae, purpura/ecchymosis, xanthomas, pruritus marks, hemolytic facies, and phylecten.
  6. Mention signs of liver cell failure if present.
  7. Genitals, tanner staging wherever applicable, if you couldn't perform, explain why?
  8. BCG mark, abdominal tap mark, liver biopsy mark.
  9. Skull/ spine in case of hemolytic anemia.

Ask the child to write something and confirm if any changes in handwriting in case if you suspect hepatic encephalopathy.

Some viva questions could be

  1. What are the grades of pallor? 
  2. Why there is wide pulse pressure in liver cell failure ?. 
  3. What are the signs of liver cell failure on general examination? 
  4. How to do a lymph node examination? 
  5. What are the other conditions where you can get umbilical hernia?  
  6. Mechanism of Asterixis (also hepatic flap)?  
  7. How Kayser–Fleischer rings develop ? 
  8. What is Murphy's sign? 
  9. Some conditions in which Spider naevus are seen?

B. Systemic examination

1. Abdominal exam

1a. Inspection

inspection of abdomen
Fig.1 - Abdominal Inspection [source-1]
  1. • Confirm distention. Explain upper or Lower parts or both. • Whether localized to right or left side. • Check the umbilicus for evertion or stretching and fullness in flanks. • Check Scars, abdominal tap marks, liver biopsy, sinuses, or dilated veins. • Examine hernial orifices and genitalia.

1b. Palpation

palpation of abdoomen
Fig.2 - Abdominal Palpation [source-1]
  1. • Feel for edema of the abdominal wall. • Feel abdomen, soft, hard, or doughy feel?. • Superficial palpation: Tenderness, guarding, or rigidity. • Deep palpation
Liver :
  1. Size - How much mentions size in cms in Right midclavicular line and cms in midline below the xiphisternum. 
  2. Upper border of liver dullness is in --- Right Intercostal space with liver span of --- cm. 
  3. The edge is sharp or round or leafy. 
  4.  The surface is smooth or nodular
  5. Palpation is tender or nontender. 
  6.  Consistency is soft or firm or hard. 
  7.  Movement with respiration is present or not
  8. Pulsations- Rub/bruit over the liver. present or absent.
Spleen:
  1. Size - mention in cm from the left subcostal margin 
  2. Tender or non-tender 
  3. Consistency - smooth or irregular
  4. Feel - soft/firm or hard.
  5. Anterior notch felt/unfelt Bruit - Present or absent.

1c. Percussion

percussion of abdomen
Fig.3 - Abdominal Percussion [source-1]
  1. • Check for signs of free fluid in the form of • Puddle sign (120cc) • Shifting dullness (>1litre) • Fluid thrill (>2 liters)

1d. Auscultation

abdominal auscultation
Fig.4 - Abdominal Auscultation [source-1]
  1. • Bowel sounds over abdomen - present or absent. • Any Bruits over abdomen. • Per rectal examination - might not be possible but mention the importance.

Other systems examination

  1. DERM: Petechiae and purpura (malignancy); pruritis/jaundice (liver disease);rashes (infection).
  2. Eyes: Icterus, cherry red retinal spots or cloudy cornea (lipid storage disease), Kayser-Fleischer (Wilson’s disease)
  3. CNS: Decreased LOC, seizures (hypoglycemia due to storage disease)
  4. CV/ RESP: Murmur, abnormal heart sounds (S3, S4) (congenital heart diseases), SOB/ abnormal breath sounds (alpha-1 antitrypsin deficiency)
  5. GI: tenderness, distension, ascites, hepatomegaly (liver disease, gallstones, trauma), splenomegaly (hemolytic anemia)
  6. MSK: joint tenderness (hepatitis), bone pain (malignancy)

Some Viva questions could be

  1. Demonstrate palpation of liver and spleen. 
  2. Demonstrate shifting dullness. 
  3. How will you calculate liver span? 
  4. Causes mistook for hepatomegaly? (abdominal tumor, spinal deformity, etc)
  5. How do we differentiate spleen from kidney on abdominal examination?
  6. What is the mechanism behind caput-medusae? 
  7. What is Courvoisier’s sign? 
  8. The mechanism for hepatic foetor. 
  9. The mechanism for hepatic venous hum.
  10. What are the functions of spleen?
  11. What are common infiltrative tumor causing hepatomegaly
  12. Causes of massive splenomegaly

Diagnosis

--- (Name)--- is a ---(age)--- Yr old ---(sex)---  child born of a --- (consanguinity) --- marriage with hepatosplenomegaly, jaundice and has ... +/- failure to thrive with +/- pallor with +/- hematemesis/ malena/ IU infection/ umbilical vein catheterization with +/- signs/symptoms of vitamin deficiency A/D/E/K. She also has +/- s/s of liver cell failure, with +/- s/s of Portal hypertension +/- hypersplenism +/- dysmorphic features +/- s/s of storage disorder. (mention possibility of if you are not sure) Mention all positive things first, and then negative

My first possible Differential diagnosis is: ------- Followed by ----- and this ------

Differential diagnosis of hepatomegaly and splenomegaly

Some Viva Questions could be

  1. How did you reach the diagnosis? 
  2. What are the hematological causes of hepatosplenomegaly 
  3. What are the complications of hep B

1. Hepatosplenomegaly: (predominant hepatomegaly)

  1. • Infection - Disseminated Koch’s, malaria, kala-azar, SBE, IU infection, Neonatal Hepatitis syndrome. • Hematological - Chronic hemolytic anemia, leukemia, Hodgkin’s lymphoma. • Congestive - CCF, constrictive pericarditis, Budd-Chiari, Portal hypertension. • Storage - Niemann-pick disease, Gaucher, GSD, MPS.

2. Splenohepatomegaly (predominant splenomegaly)

• Gaucher’s disease type 1 to 4

3. Isolated Hepatomegaly

• TB, kwashiorkor, CCF, leukemia, lymphoma, congenital hepatic fibrosis, Storage disorders (glycogenosis, MPS, Gaucher's disease, Niemann-pick disease), tumors (Hepatoblastoma, Wilms, neuroblastoma).

4. Hepatosplenomegaly with lymph nodes:

• Disseminated Koch’s, leukemia, lymphoma, infectious mononucleosis.

5. Hepatosplenomegaly with anemia

  1. • Neonatal-Isoimmune hemolytic anemia, congenital spherocytosis, alpha thalassemia, TORCH, TB, congenital malaria, congenital leukemia, histiocytosis, neuroblastoma, osteopetrosis. • Infancy- Thalassemia, sickle cell anemia, Malignancy, Malaria, Kala-azar, TB, Gauchers, Niemann-Pick disease, GSD. Post Graduate. • Childhood – spherocytosis, Infection, JRA, SLE, Cirrhosis with portal hypertension, Malignancy

6. Hepatosplenomegaly with ascites

  1. • Disseminated Koch’s. • Cirrhosis of liver- post hepatitis, Indian childhood cirrhosis, Wilson’s Disease, portal hypertension. • Congestive- Constrictive pericarditis, Budd-Chiari, pericardial effusion. • Malignancy-rarely ascites.

7. Isolated Splenomegaly

  1. • Infections- malaria, kala-azar, TB, SBE, CMV, EBV, Toxoplasmosis. • Hematological -hemolytic anemia, hemoglobinopathies. • Congestive - PHT, cirrhosis, chronic CCF, constrictive pericarditis. • Infiltrative- Niemann-pick disease, Gaucher’s disease. • Neoplastic -leukemia, lymphoma. • Miscellaneous-Rheumatoid arthritis, SLE. • Massive splenomegaly-disseminated Koch’s, malaria, kala-azar, Extrahepatic portal hypertension, tropical splenomegaly, spherocytosis, osteopetrosis. • Moderate splenomegaly- above+ leukemia, Hodgkin’s lymphoma, hemolytic anemia. • Mild splenomegaly -above+ typhoid, SBE, septicemia.

8. Splenomegaly with pallor/ icterus:

• Hemolytic anemia, cirrhosis, Portal hypertension, hypersplenism.

9. Splenomegaly with petechiae/ecchymosis

• Acute leukemia.
• SBE, ITP, hypersplenism.

Storage disorders causing hepatosplenomegaly

All Genetic syndrome for OSCE here
Type Disease
Lipid storage diseases a) Gaucher diseaseb) Niemann-Pick diseasec) Gangliosidosesd) Mucolipidoses
Mucopolysaccharoidoses a) Hurlers syndromeb) Hunters syndrome
Glycogen storage disease Type IV
Amyloidosis

Investigations and diagnostic plan:

Explain that the investigation can be planned to

  1. assess organ function and severity of the damage. 
  2. Support or confirm the diagnosis and to rule out possibilities.

Try to maintain the order, and include more specific investigation first and non-invasive first.

Arrange the order as per the possibilities of diagnosis. Sometimes when not clear go from basic to advance diagnostic. Dividing your plan of investigation helps you remember the investigations.

A. Bloods / Labs

a. Basic hematology

  1. Hb/CBC
  2. Platelet count, Review of peripheral smear, reticulocyte count.

b. To assess liver function and extent of damage

  1. S.bilirubin, SGOT, SGPT, ALK.Phosphatase.
  2. Total protein, albumin.
  3. PT/PTTK (read a detailed interpretation of LFT here).

c. Other Bloods

  1. Serum calcium/phosphorus/alkaline phosphatase.
  2. Serum BUN/creatinine/ electrolytes for renal function and dyselectrolemia.
  3. ESR raised in TB, malignancy, and collagen vascular disease.
  4. Urine examination bile salts/bile pigments in urine.
  5. Stool examination for occult blood, worms, E.Histolytica.

B. Imaging

  1. Ultrasound abdomen with doppler detects hepatosplenomegaly, liver architecture, gall bladder, and biliary tree pathology, portal vein size, lymph nodes, and free fluid in the abdomen.
  2. Chest X-Ray, Mantoux test if suspicion of tuberculosis.
  3. Abdominal CT or MRI (hepatic masses, biliary tree, anatomical obstructions)

C. Etiology specific investigations to support and or confirm the diagnosis

  1. Liver biopsy for suspected storage disorders and tissue diagnosis.
  2. Slit-lamp examination to detect KF ring, S.ceruloplasmin, urine copper excretion (Wilson’s disease).
  3. EBV, CMV, TORCH serology titers to r/o IU infection.
  4. Hb electrophoresis to detect thalassemia, sickle cell disease, etc.
  5. Other tests like hepatic viral markers. Osmotic fragility, Blood culture, Bone marrow examination, Plasma and urine aminoacidogram, Alpha-1 antitrypsin levels, Sweat chloride to detect cystic fibrosis.

D. Diagnostic Procedure

  1. Ascitic tap for diagnostics or to confirm complications of ascites like SBP where necessary.
  2. ERCP for stones etc.

Some Viva Question could be

  1. How will you plan diagnostic tests for the child.? 
  2. What are the available treatment options in case? 
  3. What is hepatorenal syndrome?
  4. What is spontaneous bacterial peritonitis, diagnostic criteria, and management?
  5. Management of hepatic encephalopathy.
  6. Timeline for various markers in hepatitis B.
  7. Causes of hepatosplenomegaly in neonates.
  8. Treatment of Wilson disease.


investigation plan for liver disease
Fig.5 - showing how to approach the investigation plan for liver disease.

Management plan for chronic liver disease

You need to tailor-made the plan according to the situation and issues, based on your diagnosis. Explain your plan in an organized manner under the following headings.

A. Treat cause / specific treatment / Discontinue hepatotoxic drugs

B. General

  1. Good nutrition.
  2. Avoid hepatotoxic drugs.

C. Screen regularly

  1. Alpha FP (HCC monitoring).
  2. USS ( hepatic venous thrombosis, HCC, portal flow).
  3. Endoscopy for varices.

D. Treat Complication

  1. Varices
  2. Ascites
  3. Encephalopathy
  4. Coagulopathy

Some Viva Questions could be

  1. Management of cholestasis, doses of ADEK. 
  2. Management of hepatic encephalopathy. 
  3. Treatment of autoimmune hepatitis.
  4. What are the complications of chronic hepatitis B
  5. Indications of splenectomy?
  6. Immunization in planned splenectomy.

Image source [1]: Armanjain011, CC BY-SA 3.0 via Wikimedia Commons


Further reading

  1. Examination of the liver. https://stanfordmedicine25.stanford.edu/the25/liver.html
  2. Examining lymph nodes. https://stanfordmedicine25.stanford.edu/the25/lymph.html
  3. General history taking tips in pediatrics. Ped Med Utah University

Author

about authors

Ajay Agade | DNB(Pediatrics), FNB(Pediatric Intensive Care), Fellowship in Pediatric pulmonology and LTV

Ajay is a Paediatric Intensivist, currently working in Pediatric Pulmonology & LTV at Great Ormond Street Hospital NHS, London

2 comments

  1. Excellent
    • Glad, that you liked it.

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