1. Dr.Gaafer Ibn Auf Specialized
Children's Hospital
CASE PRESENTATION
Dr.Ibrahim Gamer eldawla Unit
Pr esent ed by:
Dr. Yasser Mohammed Ahmed

2.  N e
am : H .A
.K .
 Age : 2½ yr s.
 Gender : Fem e.
al
 R dence
esi : N H fa .
ew al
 Tr i be : shukr i a.
 I nf or mant : her m her .
ot
 A i t t ed on : 31/m
dm ay/2009.

3. c/o
 Ski n r ash 1
yr .
 Cough 1 week.

4. H.P.I
 Si nce 1yr m pt . suf f er i ng f r om
y
ski n r ash m nl y i n t he scal p,
ai
f ace ant er i or chest , abdom en and
upper par t of t he back. i t ’s
er yt hem us m
at acul o- papul ar , dr y.
W hen sl oughed became hypo
pi gm ed ar eas & r ed cr ust s.
ent

5.  A ssoci at ed w t h m l d i t chi ng& on
i i
and of f l ow gr ade f ever , pt . seen
i n hal f a hosp. and gi ven t opi cal
t r eat ment sever al t i mes f or hi s
ski n l esi ons w t h out i m ovem .
i pr ent

6.  A so pt . adm t t ed t o H hospi t al
l i .
t hr ee t i mes dur i ng l ast f ew
m hs & ever y t i m pt . need
ont e
m t i pl e bl ood t r ansf usi ons and
ul
di schar ge w t h out
i def i ni t e
di agnosi s.

7.  7 days PTA pt . devel oped dr y
cough , SO & m l d L.L sw l i ng .
B i el
 Pt . di agnosed anaem c hear t f ai l ur e
i
+ chest i nf ect i on, gi ven bl ood &
ant i bi ot i cs.

8.  t he m her not i ce t hat her chi l d
ot
not gai ni ng W and becam
t e
i r r i t abl e, her appet i t e poor , t her e
w abd. di st ensi on w t h nor m
as i al
bow habi t s.
el
 Then pt . r ef er r ed t o G bn auf.i
hospi t al f or m e i nvest i gat i ons.
or

9. Review of the systems:
 MSS: t her e i s m uscl e w i ng, no
ast
j oi nt pai n or j oi nt sw l i ng.
el
 CNS: no l oss of consci ousness, no
convul si ons, nor m hear i ng & vi si on
al
no w eakness.
 Renal S : ur i ne of nor m col our ,
al
am ount & f r eq.

10. Past.M.H. :
 Past H of ear s di schar ge 3 m PTAo
ext ended f or 1 m t r eat ed w t h ear
o i
dr yness & A .
B
 P H of r epeat ed hospi t al
adm ssi ons & bl ood t r ansf usi ons.
i
 no P H of bl eedi ng .

11. Developmental History:
 M pt out com of N
y e SVD af t er
uncom i cat ed pr egnancy.
pl
 N per i or post nat al pr obl em
o s.
 She passed t hr ough nor m m l e
al i
st ones t i l l age of 1 yr w hen
st ar t ed t o w k w t h out suppor t
al i
t hen st opped her e. now j ust
st and, say f ew w d, but know a
or
l ot .
 her devel opm alent age b/w ( 1-
1.5) yr .

12. Vaccination :
Vacci nat ed accor di ng t o ol d EPI w t h
i
B G scar pr esent .
C

13. Nutritional History :
Excl usi vel y br east f ed t i l l 4 mo.
W eaned at 1.5 yr s.
N ow on or di nar y f am l y di et
i
, suf f i ci ent i n (C O pr ot ei ns
H,
&f at s).

14. Family history:
31y 38 yr s
H/W f ar mer
17y 12y 8y 5y
2.5y
no FH of si m l ar condi t i on.
i
she has 4 si st er s, al l w e al i ve &
er
w l.
el

15. Social History :
 The l evel of educat i on of t he
f at her & m her i s pr i m y school .
ot ar
 They l i ves i n t her e ow house w t h
n i
l i m t ed f aci l i t i es.
i
 They ar e of l ow soci o-ecnom c i
st at us.
 D sease has negat i ve r ef l ect i ons on
i
f am l y soci al l y & econom cal l y.
i i

16. Drug History :
 O r egul ar use of t opi cal oi nt m s
n ent
f or l ast one year .
 not know t o be al l er gi c t o any
n
dr ug t aken.

17. On Examination :
Pt l ooks i l l , pal e not j aundi ce not
cyanosed
Vi t al si gns:
PR : 110 b/m ê nor m f eat ur es.
al
R : 35 c/m
R
B 85/50 nor m
P: al
Tem 37.6 c˚
p:

18. Anthropometric measures:
W :
t 8 kg bel ow t he 3r d
cent i l e
 Lengt h : 73cm bel ow t he 3r d
cent i l e
 H : 45cm
.C at t he 10t h
cent i l e

19.  Head& neck:
 no dysm phi sm
or .(00)
 bot h f ont anel s w e cl osed.
er
 N ear s di schar ge w t h i nt act
o i
t ympani c m br ane.
em

20.  Head& neck cont. :
Lt sub m andi bul er LN pal pabl e(3 4)cm
(01) firm, not fixed or tender ê nor m cover i ng
al
ski n.
R . pr eaur i cul ar & sub m
t andi bul ar
LN w e er
si gni f i cant l y pal pabl e (2a, 2b).
 N ot her si gni f i cant l y pal pabl e
o
gr oup.
 Exam nat i on of t he or al cavi t y&
i
t hr oat w nor m .
as al

21.  Chest : sl i ght l y di st r essed, t r achea
i s cent r al , no m ast i nal
edi
shi f t , nor m ai r ent r y, nor m
al al
vesi cul ar br eat hi ng w t h f ew
i
scat t er ed cr eps bi l at er al l y no
w heezes.
 CVS : apex at 5t h I C S j ust out
M L, t her e w gal l op r hyt hm &
C as
shor t syst ol i c m m & LL oedem
ur ur a

22.  ABDOMEN: di st ended, um l i cus f l at ,
bi
l i ver 6 cm B M sof t , t ender , sm h
C oot
sur f ace, l i ver span 9 cm .
spl een 4cm B M sm h sur f ace ,f i r m
C , oot
.
ki dneys not pal pabl e, no asci t es.
no pal pabl e Par a A LN her neal
,
or i f i ces w e, nor m ext . geni t al i a ,
er al
PR not done.
 CNS: nor m al
 MMS: no j oi nt sw l i ng or
el
t ender ness.

23.  SKIN:
m acul o papul ar br ow t o r ed r ash
n
cover ed al l f ace & scal p (03), t he
ant er i or chest , abdomen (4a, 4b)
and upper par t of t he back.
upper &l ow l i m w e f r ee,
er b er
som r ashes heal ed t o hypo
e
pi gm ed
ent spot s (05).

24. SKIN cont. :
hai r spar se but of nor m col our .
al
t her e i s pet echi al r ash i n t he
sol e s of f eet (06).

25. Summary
 2½ yr s f em e w t h hi st or y of m
al i acul o
papul ar er yt hm ous ski n r ash f or one
at
yr , al so she had hi st or y of ot i t i s
m a & f r equent B . acut el y
edi T
pr esent ed w t h s/s of anaem c H
i i F.
O/E pal e, di f f use ski n r ash. A sol
t her e hepat o- spl enom egal y& cer vi cal
L. adenopat hy
LL edem ++.
a

26. Differential diagnosis
 Langer hans cel l hi st i ocyt osi s(LC ).
H
A LL.
 Lym phom a.
 Li pi d st or age di seases:
–G usher 's di sease t ype1.
– N em
i ann Pi ck di sease t ype B .

27. Investigations:
BFFM : - ve
U i ne anal ysi s: cl ear .
r
St ool anal ysi s: cl ear .
ur i ne f or m abol i c scr eeni ng :
et -
ve
RG
B: 6.1 m ol /l .
m
scr eeni ng f or H V: -ve
I
scr eeni ng f or hepat i t i s B C : -ve
&
m oux t est : -ve
ant

28. CBC
date 2/6/09 9/6/09 15/6/09 N.V
HB 2 g/dl 3.4 g/dl 3.6 g/dl (11-17)g/dl
RBC 660 10³/µl 1260 10³/µl 1410 10³/µl (3900-5300) 10³/µl
HCT 7% 13% 11.3% (35-45)%
MCV 100 fl 83 fl (80- 96) fl
MCH 30 pg 25.5 pg (28- 32) pg
MCHC 29 g/dl 30.5 g/dl (32- 36) g/dl
TWBC 7.1 10³/µl 3.2 10³/µl 13.7 10³/µl (4.0-11.0) 10³/µl
N 67 % 30 % (50-80)%
L 30 % 64 % (25-50)%
M 3% 6% (2-7)%
Retics 6.9% (0.2-2)%
PLT 64 10³/µl 30 10³/µl 34 10³/µl (150-400) 10³/µl
ESR 100

29.  P.B ct ur e:
.Pi
Ver y sever e anaem a w t h pol y
i i
chr om a.
asi
PLT l ow .
W C nor m .
B al
H el ect r ophor esi s:
B A/A
PT : 13 sec
(11- 15)
PTT: 26 sec
(26- 36)

30. RFT & Electrolytes:
Date 2/6/09 N.V
urea 11 mmol/l (4- 8) mmol/l
creatinine 70.4 µmol/l (70-133) µmol/l
S.Sodium 130 mmol/l (132-142) mmol/l
S.Potasium 3.2 mmol/l (3.2- 5.2) mmol/l
S.Calcium (total) 2 mmol/l (2.1- 2.5) mmol/l
S.Phosphorus 0.96 mmol/l (1.2-2.2) mmol/l
S.Uric acid 202 µmol/l (100-350) µmol/l

31. LFT& Enzymes
Date 3/6/09 N.V
TSB 32 µmol/l <34 µmol/l
Direct 11 µmol/l <3.4 µmol/l
T.Protein 62 g/l (61- 75) g/l
S.Albumin 26 g/l (32- 50) g/l
AST 35 u/l (15- 55) u/l
ALT 35 u/l (5- 45) u/l
ALP 85 u/l (145-420) u/l

32. U/S abdomen 6/6
 l i ver enl ar ged w t h nor m t ext ur e,
i al
por t al vei n not di l at ed &nor m al GB
&bi l i ar y syst em .
 Spl een: show m oder at e homogenous
enl ar gem .ent
 B h ki dneys : nor m , no cal cul i or
ot al
r el at ed m asses.
 U :w l s sm h and r egul ar , no
.B al oot
cal cul i .
 N abdom nal or pel vi c m
o i asses or cyst s.
 N f r ee f l ui ds col l ect i on.
o

33.  C : (show
XR )
 Skul l X R ay: ( 1, 2 , 3)
 L L l ong bones x R : (show
ay )
R ol ogy r epor t :
adi
C : r i bs & bot h hum s i nvol vem
XR our ent
(l yt i c l esi ons), nor m l ungs+ m
al od.
car di om egal y.
Skul l : m t i pl e l yt i c(punched out )
ul
l esi ons, al so know as (geogr aphi cal
n
skul l ).
LL: Lt f em & R . t i bi a i nvol vem .
ur t ent
Pel vi s& V. C um show no i nvol vem .
ol n: ent

34. Bone marrow aspirate& biopsy:14/6
A r at i on: dr y t ap
spi
PB di m phi c bl ood pi ct ur e w t h t ar get
P: or i
cel l & nucl eat ed R C seen.
B
W C adequat e w t h m ocyt e not ed.
B i yel
PLT r educed. (Leuko-er yt hobl ast i c
pi ct ur e ).
(Show B sl i des 01, 02, 03).
.M
adequat e Tr ephi ne bi opsy t aken w t h i
f r agm ed bony t r abecul ae ext r em y
ent el
hyper cel l uar w t h depr essed
i
haem opoi esi s, m r ow i s i nf i l t r at e by
ar

35. Bone marrow aspirate& biopsy:14/6
f i ndi ng consi st ent w t h LC .
i H
f or speci al st ai n w t h C 1a, S100.
i D
st ai ni ng w t h S100 w
i as +ve
(t el ephone com ent done i n m l i t ar y
m i
hosp.)

36. DIAGNOSIS :
LCH class IIIa.

37. Management :
 Counsel i ng.
 Suppor t i ve t r eat m .
ent
B ood t r ansf usi on
l
t opi cal oi nt ment
C hem her apy.
ot
st er oi d& vi nbl ast i n
 Fol l ow up.

38. Fol l ow up pl an:
1. C i ni cal l y. 0a, 0b, 0c
l
2. Lab :
– C Cdone 8/8/009 , LFT , bl eedi ng
B
pr of i l e .
– B one m r ow 1a , 1b). done13/8/009
ar .(
(conc: LC i n hem ol ogi cal
H at
r em ssi on).
i
3. R adi ol ogi cal :
– C & Skel et al sur vey.
XR
4. EN consul t at i on.
T

39. Literature review :
 Histiocytic Disorders
 cl ass1 ( LC ) H
N m hi st i ocyt es or i gi nat e f r om
or al
pl eur i pot ent st em cel l s .
Under t he ef f ect of var i ous cyt oki nes ,
hi st i ocyt es di f f er ent i at e t o speci al i zed
cel l s :m onocyt es ,t i ssue m ophages
acr
dendr i t i c cel l s and l anger hans cel l s.
t hese cel l s becam ant i gen pr esent i ng
e
cel l s and som have phagocyt i c
e
act i vi t i es.

40.  H st i ocyt osi s ar e het er ogeneous gr oup
i
of uncom on pr ol i f er at i ve di seases
m
i nvol vi ng B der i ved i m at ur e
.M m
hi st i ocyt i c cel l s , w ch can have m e
hi or
r eact i ve t han m i gnant f eat ur es.
al
 W O cl assi f i cat i on of hi st i ocyt i c
H
di sor der s:
 C ass I
l dendr i t i c cel l r el at ed
di sor der s. (LC ) :
H
I Si ngl e bone
II M t i pl e bone
ul
 I I I A bone + sof t t i ssues

41.  C ass I I (m ophage r el at ed di sor der )
l acr
:
1. H st i ocyt osi s of m
i ononucl ear
phagocyt es ot her t han LC s
2. 1r y& 2r y hem ophagocyt i c
l ym phohi st i ocyt osi s.
3. Si nus hi st i ocyt osi s w t h m
i assi ve
l ym phadenopat hy (R osai -D f m
or an)
4. Juveni l e xant hogr anul om (JXG
a )
5. R i cul o hi st i ocyt om
et a

42.  C ass I I I M i gnant hi st i ocyt i c
l al
di sor der s :
1. A cut e monocyt i c l eukem a (FA M
i B 5).
2. M i gnant hi st i ocyt osi s.
al
3. Tr ue hi st i ocyt i c l ymphom .
a

43.  C i dence l evel s f or t he di agnosi s of
onf
LC :H
– pr esum i ve : l i ght m phol ogi c
pt or
char act er i st i cs .
– Designated : above + ≥2 posi t i ve st ai ns
of :
1. A denosi ne t r i phosphat ase
2. S-100 pr ot ei n.
3. A pha –D m
l - annosi dase .
4. Peanut l ect i n.
– D i ni t i ve : l i ght + B r beck gr anul es
ef i
and/ or C 1aD

44. Poor pr ognost i c f eat ur es :
1. I nvol vem ent of t he r i sk or gans w t hi
dysf unct i on (l ungs ,br ai n , l i ver , B ).
M
2. Lack of r api d r esponse t o chem her apy
ot
.
3. A bsence of bone di sease
 The w st pr ognosi s i s associ at ed w t h
or i
cl ass I I I b (Let t er er Si w i t h a
e),w
5year s sur vi val of 50% w t h i nt ensi ve
i
chem her apy.
ot
 A under 2 yr s at di agnosi s w t hout
ge i
“R SK
I ” or gan

45. THANKS