My Case(case presentation LCH, in SMSB

الرحيم االرحمن الله بسم

Dr.Gaafer Ibn Auf Specialized Children's Hospital

CASE PRESENTATIONDr.Ibrahim Gamer eldawla Unit

Presented by:

Dr. Yasser Mohammed Ahmed

Name : H.K.A. Age : 2½ yrs. Gender : Female. Residence : New Halfa . Tribe : shukria.

Informant : her mother. Admitted on : 31/may/2009.

c/o

Skin rash 1 yr.

Cough 1 week.

H.P.I Since 1yr my pt. suffering

from skin rash mainly in the scalp, face anterior chest, abdomen and upper part of the back. it’s erythematus maculo- papular, dry. When sloughed became hypo pigmented areas & red crusts.

Associated with mild itching& on and off low grade fever, pt. seen in halfa hosp. and given topical treatment several times for his skin lesions with out improvement.

Also pt. admitted to H. hospital three times during last few months & every time pt. need multiple blood transfusions and discharge with out definite diagnosis.

7 days PTA pt. developed dry cough , SOB & mild L.L swelling .

Pt. diagnosed anaemic heart failure + chest infection, given blood & antibiotics.

the mother notice that her child not gaining Wt and became irritable, her appetite poor, there was abd. distension with normal bowel habits.

Then pt. referred to G.ibn auf hospital for more investigations.

Review of the systems:

MSS: there is muscle wasting, no joint pain or joint swelling.

CNS: no loss of consciousness, no convulsions, normal hearing & vision no weakness.

Renal S : urine of normal colour, amount& freq.

Past.M.H. : Past H of ears discharge 3 mo

PTA extended for 1 mo treated with ear dryness & AB.

P H of repeated hospital admissions & blood transfusions.

no P H of bleeding .

Developmental History:My pt out come of NSVD after

uncomplicated pregnancy.No peri or post natal problems.She passed through normal

mile stones till age of 1 yr when started to walk with out support then stopped here. now just stand, say few word, but know a lot.

her developmental age b/w ( 1-1.5) yr.

Vaccination :

Vaccinated according to old EPI with BCG scar present.

Nutritional History :

Exclusively breast fed till 4 mo.Weaned at 1.5 yrs.Now on ordinary family diet ,

sufficient in (CHO, proteins &fats).

Family history:31y 38 yrsH/W farmer

17y 12y 8y 5y 2.5y

no FH of similar condition.she has 4 sisters, all were alive &

well.

Social History :The level of education of the

father& mother is primary school.

They lives in there own house with limited facilities.

They are of low socio-ecnomic status.

Disease has negative reflections on family socially & economically.

Drug History :

On regular use of topical ointments for last one year.

not known to be allergic to any drug taken.

On Examination :

Pt looks ill, pale not jaundice not cyanosed

Vital signs: PR : 110 b/m ê normal features.RR: 35 c/mBP: 85/50 normalTemp: 37.6 c˚

Anthropometric measures:Wt : 8 kg below the 3rd

centile Length : 73cm below the 3rd

centile H.C : 45cm at the 10th

centile

Head& neck:no dysmorphism.(00)both fontanels were closed.No ears discharge with intact

tympanic membrane.

Head& neck cont. :

Lt sub mandibuler LN palpable(3×4)cm (01) firm, not fixed or tender ê normal covering skin.

Rt. preauricular& sub mandibular LN were

significantly palpable (2a, 2b).

No other significantly palpable group.

Examination of the oral cavity& throat was normal.

Chest : slightly distressed, trachea is central, no mediastinal shift, normal air entry, normal vesicular breathing with few scattered creps bilaterally no wheezes.

CVS : apex at 5th ICS just out MCL, there was gallop rhythm & short systolic murmur & LL oedema

ABDOMEN: distended, umbilicus flat,

liver 6 cm BCM soft , tender, smooth surface, liver span 9 cm.

spleen 4cm BCM, smooth surface ,firm .

kidneys not palpable, no ascites.

no palpable Para A LN, herneal orifices were, normal ext. genitalia , PR not done.

CNS: normalMMS: no joint swelling or

tenderness.

SKIN:

maculo papular brown to red rash covered all face & scalp (03), the anterior chest, abdomen (4a, 4b) and upper part of the back.

upper &lower limb were free, some rashes healed to hypo

pigmented spots (05).

SKIN cont. :

hair sparse but of normal colour .

there is petechial rash in the sole s of feet (06).

Summary

2½ yrs female with history of maculo papular erythmatous skin rash for one yr, also she had history of otitis media & frequent BT . acutely presented with s/s of anaemic HF.

O/E pale, diffuse skin rash. Also there hepato- splenomegaly& cervical L. adenopathy

LL edema ++.

Differential diagnosis

Langerhans cell histiocytosis(LCH).

ALL.Lymphoma.Lipid storage diseases:

– Gusher's disease type1.– Niemann Pick disease type B.

Investigations: BFFM : - ve Urine analysis: clear. Stool analysis: clear. urine for metabolic screening :

-ve RBG: 6.1 mmol/l. screening for HIV: -ve screening for hepatitis B& C : -ve mantoux test : -ve

CBCdate 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

RBCHCT

660×10³/µl7 %

1260×10³/µl13%

1410×10³/µl11.3%

(3900-5300)×10³/µl (35-45)%

MCVMCH

100 fl30 pg

83 fl25.5 pg

(80- 96) fl(28- 32) pg

MCHCTWBC

29 g/dl7.1×10³/µl 3.2×10³/µl

30.5 g/dl13.7×10³/µl

(32- 36) g/dl(4.0-11.0) ×10³/µl

NLM

67 %30 %3 %

30 %64 %6 %

(50-80)%(25-50)%(2-7)%

Retics 6.9% (0.2-2)%

PLTESR

64×10³/µl100

30×10³/µl 34×10³/µl (150-400) ×10³/µl

P.B.Picture: Very severe anaemia with poly

chromasia. PLT low. WBC normal.

HB electrophoresis: A/A

PT : 13 sec (11- 15)

PTT: 26 sec (26- 36)

INR : 1.1 1

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

RFT & Electrolytes:

LFT& EnzymesDate 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

U/S abdomen 6/6 liver enlarged with normal

texture, portal vein not dilated &normal GB &biliary system.

Spleen: show moderate homogenous enlargement.

Both kidneys : normal , no calculi or related masses.

U.B :walls smooth and regular, no calculi.

No abdominal or pelvic masses or cysts.

No free fluids collection.

CXR: (show) Skull X Ray: ( 1, 2 , 3) L L long bones x Ray : (show)Radiology report: CXR: ribs & both humours

involvement (lytic lesions), normal lungs+ mod. cardiomegaly.

Skull: multiple lytic(punched out) lesions, also known as (geographical skull).

LL: Lt femur& Rt. tibia involvement.

Pelvis& V. Column: show no involvement.

Conclusion: findings compatible with LCH.

Bone marrow aspirate& biopsy:14/6 Aspiration: dry tap PBP: dimorphic blood picture with

target cell & nucleated RBC seen. WBC adequate with myelocyte

noted. PLT reduced. (Leuko-erythoblastic

picture ). (Show B.M slides 01, 02, 03). adequate Trephine biopsy taken

with fragmented bony trabeculae extremely hypercelluar with depressed haemopoiesis, marrow is infiltrate by cluster of histiocytes, no haemophagocytosis

Bone marrow aspirate& biopsy:14/6

finding consistent with LCH. for special stain with CD 1a,

S100.

staining with S100 was +ve (telephone comment done in military hosp.)

DIAGNOSIS :

LCH class IIIa.

Management :Counseling.Supportive treatment. Blood transfusion topical ointment Chemotherapy. steroid& vinblastinFollow up.

Follow up plan:1. Clinically. 0a, 0b, 0c2. Lab :

– CBC done 8/8/009 , LFT , bleeding profile .

– Bone marrow.( 1a , 1b). done13/8/009

(conc: LCH in hematological remission).

3. Radiological :– CXR & Skeletal survey.

4. ENT consultation.

Literature review :Histiocytic Disordersclass1 ( LCH) Normal histiocytes originate from

pleuripotent stem cells . Under the effect of various

cytokines , histiocytes differentiate to specialized cells :monocytes ,tissue macrophages dendritic cells and langerhans cells. these cells became antigen presenting cells and some have phagocytic activities.

Histiocytosis are heterogeneous group of uncommon proliferative diseases involving B.M derived immature histiocytic cells , which can have more reactive than malignant features.

WHO classification of histiocytic disorders:

Class I dendritic cell related disorders. (LCH) :

I Single bone II Multiple bone IIIA bone + soft tissues IIIB soft tissues only

Class II (macrophage related disorder) :

1. Histiocytosis of mononuclear phagocytes other than LCs

2. 1ry& 2ry hemophagocytic lymphohistiocytosis.

3. Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman)

4. Juvenile xanthogranuloma (JXG)5. Reticulo histiocytoma

Class III Malignant histiocytic disorders :

1. Acute monocytic leukemia (FAB M5).

2. Malignant histiocytosis.3. True histiocytic lymphoma .

Confidence levels for the diagnosis of LCH :– presumptive : light morphologic

characteristics .– Designated : above + ≥2 positive

stains of :1. Adenosine tri phosphatase 2. S-100 protein.3. Alpha –D- mannosidase .4. Peanut lectin.

– Definitive : light + Birbeck granules and/ or CD1a

Poor prognostic features :1. Involvement of the risk organs

with dysfunction (lungs ,brain , liver , BM).

2. Lack of rapid response to chemotherapy .

3. Absence of bone disease The worst prognosis is

associated with class IIIb (Letterer Siwe),with a 5years survival of 50% with intensive chemotherapy.

Age under 2 yrs at diagnosis without “RISK” organ involvement is not associated

with a poor outcome.

THANKS