1. BY DR ANUPA
GUIDED BY: DR MANOJ GHODA
DR REKHA H BHAVSAR
DR ROHIT R MODI
DR DEEPA A BANKER
DR PALLAVI P DAGLI

2. A7 years old male child
born out of a non
consanguinous marriage
presented with the
following complaints:

3.  An umbilical hernia since
age of 6 months which was
gradually increasing in size
 Noisy breathing/ snoring at
night
 Swelling of small joints of
fingers with restricted
movements of both wrists
and fingers

4. Coarse facies
Umbilical hernia
and protuberant
abdomen
Short spade
like hands
Short stature

5. A huge hepatosplenomegaly
 Systolic murmur
CNS: mild delay of milestones
Opthalmologic exam: normal

6.  Hb: 12gm%  S. Mg2+: 2.5
 WBC count: 13000  S. phosphorus: 4.7
 Differential count:  ALP : 287
71% neutrophils &
22% lymphocytes
 PS-non specific
 ESR: 15
 CRP - negative
 S.Ca2: 10.2

7.  Chest Xray: scoliosis, oar
shaped ribs
 X ray of the wrist and hand:
widening of metaphysis of
wrist joints, short and widened
phalanges..typical features of
dysostosis multiplexa.
 2 D echo: moderate MR, mild
TR, Mild PAH, borderline LVH
bicuspid aortic valve

9. Special investigations done:
 Liver biopsy: s/o some storage
disorder
 Urine for GAGs: positive
( type???)

10. For definitive diagnosis:
Enzyme assays on culture
fibroblalsts or serum leukocytes

11.  Now that was simple wasn’t it??
 A book picture of
MUCOPOLYSACCHARIDOSIS!!
 But what if such was not the case??!!

12. Very often what we have is only a large spleen!!
What to do then??
Lets see!!

13. HEMATOLOGICAL
AUTOIMMUNE
CONGESTIVE
CONDITIONS
CHRONIC
INFECTIONS
PARASITIC
INFECTIONS
STORAGE
DISORDERS

14.  Age?
 Residence?
 Community?

15. Is there
 Fever? Duration?
 Pallor?
 Bleeding from any site?
 Rashes?
 Transfusion of blood or blood
products?

16.  Blood in vomitus?
 Jaundice?
 Convulsions?
 Involuntary movements or
developmental delay?

17.  Familyhistory?
 Maternal story?

18.  Facies and skull
 Pallor
 Jaundice
 Rashes/ petehiae/purpura/
echhymosis
 Lymphadenopathy
 Eyes
 Anthropometry

19.  Distended abdomen?
 Dilated veins?
 Hernial sites?
 Ascites?
Now look for the size of the
spleen...

20. Mild splenomegaly:
•Infections
•CCF
•Portal
hypertension(early
stage)
•Acquired Hemolytic
anaemias

21. Moderate
splenomegaly:
•Malaria
•Kala Azar
•HIV
•Portal hypertension

22. Massive
splenomegaly:
•Leukemia
•Kala Azar
•Chronic hemoytic
anaemias
•Storage disorders

23. If not significant..
 Malaria
 Kala azar
 Portal hypertension
 Chronic hemolytc anemias

24. CBC including retic count
Peripheral smear
LFTs
Xrays
USG abdomen

25.  Upper GI Scopy
 Hb elctrophoresis
 Bone Marrow examination
 Urine analysis

26. The Mathematics of
Splenomegaly...

27. fever pallor PS
parasite
Kala azar Malaria

28. Chronic
fever
Autoimmune
Joint rashes disorders
pains
Lymph malignan
nodes cy
Anemia/ PS
bleeding picture
hemolytic
ESR

29. Chronic
fever
Wt
tuberculosis
loss/mt
/ cxray
Lymph
nodes
murmur RHD/IE
ESR

30. Hemetemesis/
jaundice/ Altered
edema LFTs
Small USG/UGI
liver scopy
Portal
hypertension

31. Ophthal
Skeleton
screen
abnormal
Coarse
facies Neurologic
deficits
Storage
disorder

32.  To take a detailed clinical history..
 Always examine from head to toe.. Do
not jump to the spleen directly
 Even the baseline investigations can
give so many clues about the final
diagnosis
 Narrow down to the group of
disorders that you are dealing with.