1. CASE DISCUSSION
DR.W.A.P.S.R. WEERARATHNA
REGISTRAR IN MEDICINE
WARD 10/02

2. • George Fernando, a 14 year old school boy
from Jaffna who had been investigated for
incidious onset abdominal distention &
intermittent abdominal discomfot for last 2
years duration.
• Paediatric ward M/C for further evaluation.
• Apparently well.
• Initial genaralized ill health+
• C/O recurrent abdominal discomfort+
• Parents have noticed mild,incidious
abdominal distention

3. • No altered bowel habits,bowel or bladder
incontinance.
• LOA+ but No noticeable LOW
• About 6/12 followed up under a GP
• No H/O recurrent febrile episodes
• He gradually devaloped fatigue,lethargy but no
behavioral changes,headaches or seizures.
• School performances gradually deteriorated.
• After about 4 months he had a bout of
haematamesis which he got admitted to a LH
THJ for further evaluation.

4. • His UOP was normal along the course of the
illness & no F/O LUTS.
• No H/O dark urine,pale stools or pruritus of
the body.
• No H/O any haemorrhagic diasthesis or H/O
any bone pains.
• He denied progressive SOB, palpitations or any
CP over this time.
• No H/O chronic cough, haemoptysis, recurrent
H/O URTI & no contact H/O PTB.

5. • He denies a H/O arthralgia of small
joints,swelling of hand joints or skin rashes.
• No photosensitivity,hair loss ir recurrent oral
ulcers.
• THJ underwent battery of
invasive/noninvasive investigations
• At present, ADL near normal,atteds school
regularly & continous follow up in the M/C
• PMH- no CHD
• PSH-Nill

6. • DH-Not on any long term medication
• ALLERGY-Nill
• BIRTH Hx- NVD, Devalopment milestones
appropriate according to the age. Parents-
consanguinity+,He received all vaccinations
according to the EPI schedule.
• FH-2 younger sisters-NL, No significant FH of a
note.
• SH-Studies at grade 8.Father is a mason.
Mother is a HW. Monthly income is not
adeqate for the expences. Knowledge about
the illness seems to be inadequate.

7. EXAMINATION
• Pale-mild
• Not icteric
• L/S partial ptosis+
• BMI-19 kgm-2
• Skin complexion NL
• No finger/toe clubbing
• No cervical adenopathy
• Not febrile.
• Not dyspnic.
• No B/L ankle oedema.

8. • AS- Mild distention+,Non tender, Moderate
hepatomegaly+ firm,margin-regular,surface
smooth
• Mild splenomegaly+, No ascites, No ballotable
kidneys
• CVS- BP- 110/70mmHg,No postural drop. PR-
88/min, HS-NL, No detectable cardiac murmers.
JVP-NL.
• RS- VB+, No added sounds in the lungs.
• CNS- Gait-NL,No objective limb weakness,No
incoordination,No tremors,speech-NL,L/S partial
ptosis+, No external opthalmoplagia, sensory-NL
,Fundoscopy-NL

9. SUMMARY
• This 14 year old school boy has a 4 years H/O
incidious onset abdominal discomfort,
distention ,genaralized ill health with a one
bout of mild haematamesis.He has a poor
school performance & regularly followed up in
the M/C.O/E he has a partial ptosis in L/S &
has mild pallor.AS exam revealed moderate
hepatomegaly with mild splenomegaly
without evidence of ascites. The rest of the
systemic exam NL.

10. INVESTIGATIONS
• 1
• 2
• 3
• 4
• 5
• 6
• 7
• 8
• 9
• 10
• 11
• 12
• 13
• 14
• 15
• 16
• 17
• 18
• 19

11. FBC
FBC 27/01/2014 24/04/2014
Hb 11.1 10.2 10.20
RBC 4.62 4.01 4.2
PCV 32.07 33.0 30.90
MCV 74.2 72.00 73.60
MCH 24.30
MCHC 33.00
PLT 66 000 57 000 60 000
WBC 3800 3100 3000

12. BLOOD PICTURE(2011/12/09)
• RBC-Hypochromic microcytic RBCs with occ.
Eliptocytes.No significant polychromasia.
• WBC-Leukopenia+,Neutropenia+
• PLT-Moderate thrombocytopenia.
• CONCLUSION-No morphological biochemical
evedence of active haemolysis.
?hypersplenism. Sugests BMA.

13. BMA(12/12/2011)
• Normocellular particles & cell traits
• Erythropoisis-normocellular/normoblastic mat
• Granulopoisis-normocell./NL maturation
• Megakaryopoisis-raised no. with normal mor.
• Lymphocytes-10-20% of BM,nucleted cells+
• Plasa cells-1-2% of marrow.
• Histeocytes-NL in No.
• Fe stores-Trace
• Cont……

14. • CONCLUSION-
• Active marrow with very active
megakariopoisis.
• Peripheral thrombocytopenia is likely due to
hypersplenism.
• BM trephine biopsy-
• Normocellular marrow.
• No evidence of storage diseases.

15. RENAL FUNCTIONS
BU- 28 mg/dl
SE
S.Na+ 144 mmol/l
S.K+ 4.1 mmol/l
S.Creatinine 0.6 mg/dl

16. UFR
• Alb Nill
PC 1-2 /hpf
EC few
Rpt UFR NORMAL

17. LFT
IIU/L
ALT 57  62
AST 65  60
ALP 356  346
T.PROTEINS 7.1  6.9
GLOBULIS 2.6  2.7
ALBUMIN 4.5  4.4
T.BILIRUBINS 0.76  0.6

18. ESR
• 11 mm/hr 05 mm/hr  10 mm/hr

19. HPLC(26/01/2012)
• Hb A-88.0%
• Hb A2-2.5%
• Hb F-1.4%
• No abnormal haemoglobins
• CONCLUSION-No evidence of beta
thalassaemia or Hb varient.
• Alpha thalassaemia cannot be excluded.

20. USS-ABDOMEN(19/04/2012)
• Liver-mildly enlarged.Genaralized increased
echogenicity+ Chronic hepatic parenchymal
disease.
• Portalization of hepatic veins+
• Varices are seen in the GB wall
• Reversal of flow in the portal veinsPHT+
• Spleen is markedly enlarged.Dialated totuous
veins+ in the splenic hilum due to PHT
• Cont….

21. • Kidneys-NL
• No para arotic or suprarenal masses.
• Aorta-NL
• Bladder-NL
• CONCLUSION-CHRONIC HEPATIC
PARENCHYMAL DISEASE WITH PORTAL
HYPERTENTION.

22. LIVER BIOPSY
• CONCLUSION-EVOLVING/ESTABLISHED
CIRRHOSIS WITH MINIMAL ACTIVITY.
• THE POSSIBLE AETIOLOGY-WILSON’S
DISEASE,HEPATITIS-B,D. LCH,GLYCOGEN
STORAGE DISEASE TYPE-3 OR CRYPTOGENIC
CIRRHOSIS.

23. UGIE(27/04/2012)
• Visualized up to D2.
• No gastric fundal varices.
• Grade-3 oesophageal varices+
• No evidence of bleeding.

24. S.CAERULOPLASMIN
• S.Caeruloplasmin 44.97 mg/dl (22-50)

25. 24 hour urine Cu excretion
• 24 hr urine volume- 400 ml
• 24 hour urine Cu – 0.14 umol/l
• 24 hour Cu excreation – 0.05 (NR-0.22-0.90)
• 24 hour Cr excreation – 0.36g
• CONCLUSION- PROBABLY AN INCOMPLETE
COLLECTION

26. SPEP(30/12/2011)
• S.Protein-71.2g/dl
BAND VALUE RANGE (g/dl)
ALBUMIN 34.9 35-55
ALPHA 1 2.26 3-5
ALPHA 2 6.84 5-7
BETA 9.94 6-10
GAMMA 12.75 9-15

27. 2 D ECHO(16/12/2011)
• Situs solitus+
• AV/VA cocordance=
• No ASD/VSD/PDA/Pericardial effusions
• CONCLUSION- NORMAL ECHO
CARDIOGRAME.

28. SERUM COMPLEMENTS
• HUMAN COMPLEMENT C3114.33 mg/dl
• NR-(90-180)
• HUMAN COMPLEMENT C418.04 mg/dl
• NR-(10-40)

29. ANA
• NEGATIVE

30. HBsAg STATUS
• NEGATIVE

31. S.Calcium levels
• Total Calcium 7.7 mg/dl

32. • Remarks…….
• Diagnosis- ?Wilson’s disease
• A/W rpt urine Cu excretion + penicillamine
challenge test results….

33. Thank you!!!