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Primary immunodeficiency_shimu_final.pptx
1. GRAND SESSION
Dr. Shewly Das
Assistant Registrar
PU- 03
Deptartment Of Paediatrics
Dhaka Medical College Hospital
2. Case Summary
Habiba, an 8-year-old
girl, immunized as per EPI
schedule, first issue of
her non consanguineous
parents, hailing from
Chattogram, got
admitted 23 August, 2023
in DMCH with the
complaints of
3. Case Summary
• Multiple abcesses over the scalp for 5 years,
• Itchy skin lesions since 3rd day of her age,
• Irregular fever since 2 years of age
• Cough for 6 years
• Not growing well in comparison to other
peers.
4. Case Summary
According to the statement of informant mother
her daughter developed maculo-papular rashes
on the face & trunk at her 3rd day of age which
persisted for 5 months.
Then it gradually involved scalp, behind the ear,
neck, trunk, upper & lower extremities (mostly
in the axilla, cubital & popliteal fossa) with
intense itching, oozing, crusting and scaling.
5. Case Summary
She also developed multiple, recurrent abcesses
with discharging pus over whole body since 2
years of age, subsided by taking antibiotics.
But lesions over the scalp is persisting for last 5
years. These are painless, large, thick, swollen,
ulcerated with scarring & hair loss.
6. Mother complained that her child developed
irregular fever for last 6 years which was low
grade, intermittent in nature, not associated
with chills or rigor, no evening rise of
temperature subsided by taking antipyretics and
antibiotics.
There was no history of contact with TB patient.
Case Summary
7. She has been suffering from recurrent attack of
cough & cold since early age of life which is
more frequent since 2 years of age.
There was persistently purulent sputum
production throughout the day & night for last 1
year.
It was not mixed with blood, not associated with
any breathing difficulty nor aggravated by cold
or dust exposure.
Case Summary
8. Case Summary
On query, mother gave history of repeated
attack of frequent pale, sometimes greenish
loose watery stool even sometimes mixed with
mucus and blood, 8-10 times a day since 6
months of age. It persisted for 7-10 days.
The child had painless per rectal bleeding for
last 6 months.
9. She also complained of recurrent abdominal
pain for last 2 years. It was mild and diffuse in
nature involving mostly upper abdomen having
no aggravating or relieving factors.
There was no radiation, no relation with meal,
not associated with vomiting and subsided by
taking antispasmotics.
Case Summary
10. Case Summary
Since 6 months of age -
• Recurrent oral ulcer
• Recurrent Ear infection
• Dental carries
• Itchy, red eye
• Sore throat
11. Case Summary
The child is not growing well inspite of having
good appetite. She has history of food allergy.
For these illness, she got admitted in several
hospital and took several medications including
oral and topical antibiotics, antihistamine and
antifungal with steroid.
As the condition was not improving, she got
admitted to DMCH for further evaluation and
better management.
12. Case Summary
Her younger brother has similar type of illness
with skin and gastrointestinal infection since
early life. Family history of atopy is present.
Mother isn’t suffering from any chronic illness.
Her birth history was uneventful.
Developmentally the child is age appropriate.
Habiba reads in class I.
She was immunized as per EPI schedule.
13. She was exclusively breast fed up to 6 months of
age. Then complementary feeding was started.
Now she is on normal family diet.
Habiba came from a lower middle socioeconomic
condition. Her father worked in abroad for 5 years
before her birth. Now he is running a business.
Case Summary
21. Lymph nodes are enlarged in
both posterior cervical,
submandibular and inguinal
region.
Largest one is measuring
about 3cmx2cm, discrete,
firm in consistency, not fixed
with overlying skin and
underlying structure.
Case Summary
25. Case Summary
Respiratory system :
RR - 36/min.
Shape of the chest was normal .
Movement was symmetrical.
Breath sound was vesicular with bilateral
crepitation.
33. Investigation
• Blood C/S - No growth of
any organism
• U/R/E - Normal
• Urine C/S - No growth
• Stool R/E - mucus & fat
globules
• Stool C/S - No growth
• Sputum C/S :
pseudomonas species
34. • MT- Negative
• Sputum for gene x pert - MTB not detected
• Stool for ultra gene x pert - MTB not detected
Investigation
35. Investigation
• S. Creatinine : 0.54 mg/dl
• Echocardiography
• PFO shunting left to right.
• Good biventricular function.
•S. Iron profile :
S ferritin: 19.30 ng/ml
S. iron : 27microgram/dL
TIBC : 302 microgram/dL
36. Biopsy from Lymph node
and the non healing
ulcer was done on
13.09.23
Investigation
37. Investigation
Culture & sensitivity of skin scrapping:
-Methicillin resistant staphylococcus aureus
(MRSA)
-Sensitive to vancomycin & linezolid
38. Investigation
USG of whole abdomen
• Liver : intrahepatic bile
trees are dilated in left
lobe.
• Common bile duct is
dilated (9mm). Lumen is
clear.
Suggestive of choledochal
cyst.
Plan for MRCP
42. Investigation
HRCT of chest :
• Normal study.
• No abnormal
opacifications in air
space or any cystic
changes is seen.
43. Investigation
• S. Ig E :
-1765 IU/L (2023)
-2995 IU/L( 2021)
• S. Ig A :
-3.42 gm/L
44. Investigation
Primary immune deficiency
panel : CD19+:
168(cells/microliter)
Impression : Lymphocytes are
13% of total (20-40%)
lymphocyte population.
Absolute count of CD19+ B cells
is apparently
decreased(8.6%).CD3+ T cell is
slightly reduced(63%).
47. Jeffrey Modell Foundation, 2021
Warning Signs for Suspicion :
1. Four or more new ear infections within 1 year.
2. Two or more serious sinus infections within 1
year.
3. Two or more months on antibiotics with little
effect.
4. Two or more pneumonias within 1 year.
5. Failure of an infant to gain weight or grow
normally.
48. 6. Recurrent, deep skin or organ abscesses.
7. Persistent thrush in mouth or fungal infection
on skin.
8. Need for intravenous antibiotics to clear
infections.
9. Two or more deep-seated infections including
septicemia.
10. A family history of Primary
immunodeficiency.
Jeffrey Modell Foundation, 2021
49. Classification
1. Combined immunodeficiencies
2. Combined immunodeficiencies with
syndromic features
3. Predominantly antibody deficiencies
4. Diseases of immune dysregulation
5. Congenital defects of phagocytes
50. 6. Defects in intrinsic and innate immunity
7. Autoinflammatory diseases
8. Complement deficiencies
9. Phenocopies of inborn errors of immunity
10. Bone marrow failure.
Classification
52. Treatment on admission
–Inj. Ceftriaxone 1gm once daily
–Inj. flucloxacillin 250mg I/V 6hourly.
–Oral Cetirizine 5mg once daily
–Nebulization with salbutamol & ipratropium
–Calcium and Vit – D Supplementation
–Oral Paracetamol
–Topical antibiotic
53. Treatment
• Consultation with department of skin &
venereology :
–Oral terbinefine
–Ketoconazole shampoo
–Topical emollient
–Topical antifungal
• Consultation with department of dentistry :
–Continue treatment & do an x ray OPG
54. Treatment
• Choledochal cyst :
Radical excision of the cyst with reconstruction
of the biliary tract using a Roux-en-Y loop of
jejunam.
55. Treatment
After 7 days :
• Inj. Meropenem
• Inj vancomycin
• Inj. Linezolid
according to C/S
report
• Inj.Tazobactam-
56. Treatment
• IVIG (400-800 mg/kg every 3 to 4 weeks)
• Phenoxymethylpenicillin 250 mg BD
or
• Cotrimoxazole (trimethoprim 5mg/kg every
alternate day)
• Hydroxyzine Hydrochloride (Artica)
• Itraconazole (5mg/kg/day BD )
57. Acknowledement
• Paediatric Surgery
• Skin & venereology
• ENT
• Dentistry
• Paediatric Hemato-oncology
• Paediatric gastroenterology
• Radiology
• Microbiology
• Rheumatology, BSMMU and
• Respected faculties of our dept. of paediatrics
Respected teacher and my dear colleagues, welcome u all to todays grand session.i m dr Shewly das going to present a case from pu3.
subsided by taking oral or parenteral antibiotics
SHE has a long history. mother complaints many more things. these are ..
As she is chronically ill she cant attend school regulary. actually this disease process haults her daily activity.
except some selective food that causes vomiting, abdominal distension and intense itching.
here patches of inflamed skin is present. flaking, scalying, oozing and crusted areas are also present.this picture is more magnified in next slides.
Here some more pictures showing Ulcerative lesions were observed over the scalp, behind the ear., scarring & hair loss.
Same type of lesions are also [present over foot, popliteal fossa
Here multiple lesions usually annular shaped with red patches and plaques present over axila, popliteal fossa. sharp margin with a raised erythematous scaly edge. central clearing present without any vesicles.
due to intense itching and repeated skin infection
Though there is a h/o painless per rectal bleeding ,we found normal findings on digital rectal examination.
Oral cavity shows high arched palate….dental carries present over all teeth including permanent and deciduous.
We also thought about atopic dermatis, tinea corporis ,IBD,celiac disease
To reach the dx we hv done some relevant investigations
Reduced hb level with eosinophilia with markedly increased ESR
This the chest x ray which shows inhomogeneous opacity present in the both lung field . hypoplastic first rib. on the right side
Culture is prepared from Skin, Sputum, Blood &
Stool & urine to determine proper antibiotics. Ure shows pH 5,
No mtb was detected in sputum and stool ultra gene xpert
Ferritin 7-142 for 6m to 15yrs,iron 37-170, TIBC 274-494
Biopsy was planned previously after getting admission & the pt was sent two times at the dept of paedi surgery.but in the operation table due acute respiratory tract infection with the advice of anesthesiologist ot was postponed.
As the child was complaining recurrent upper abd pain, we did usg of w/a which showed..
X ray skull frontal & lat view shows increased convolutional marking that gives copper beaten appearance.which is anormal finding This is the result of growing brain which exerts pressure on the cranium, producing a pattern known as the copper-beaten skull (also known as beaten brass skull). These convolutional markings may be normal during periods of rapid brain growth between age 2 and 3, and 5 and 7 years.
In case of histiocytosis there is a well-defined, punched-out, lytic lesions with sclerotic borders
>60mm0l/l
No abnormal opacifications in air space or any cystic changes is seen.
Here lymphocyte subset through (flow cytrometry is seen.. From peripheral blood
I would like to invite u all respected faculties,students and officer sagain to put some suggestion to reach the dx after reviewing history,clinical examination and lab investigations.
,
Still we r working on this.
This Table shows the Warning Signs for Suspicion of Primary Immuno-deficiency Disorders ()
Our patient meets almost all of this critereia ..now we r planning to send this patient for extended PID panel and genetic sequencing.
International Union of Immunological Societies (IUIS), an international group of experts who evaluate these diseases every 2 years according to their clinical and immunologic phenotypes listed 406 primary immunodeficiencies (PID) with 430 different gene defects, which are subdivided into these 10 categories:
We gave some Supportive management.like…. Though digital rctal exam findings found normal we consulted with p.gastroenterology &advised to do colonoscopy.
We consulted e dept of skin vd They diadnosed this case as kerion with steroid induced hypertrichosis & hypopigmentation with atopic dermatitis and suggested to continue Rx with following drugs…oral …now they advised to avoid steroid.we also consultaed with dept of dentistry they advisd to do orthopantomogram and added oral mouth wash along with tis.
As the pt has choledochal cyst we also sent in our p surgery dept for further mx.they advised to …. But du to lack of GA fitness they refused to do later on.
As the wound wasn’t healing ,cough not imoroving ,fever was still persisting, itching increased and so on inflammation, we have switched ntibiotic to meropenm & vancomycin instead of ceftriaxone & flucloxacillin. When we got C/S report taken from skin lesion that showing growth of MRSA sensitive to vancomycin &linezolid we added linezolid also.S
Treatment of this condition is to give Management of infections’
Intravenous immunoglobulin (IVIG) and antibiotic prophylaxis which are the conventional treatments .it may increase survival rate.
Though the ultimate therapeutic method is Hematopoietic cell transplantation (HCT)