primary immune deficiency disorder : shimu

primary immune deficiency disorder

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 3 rd 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 3 rd 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. 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

14. General examination : The child was ill looking, febrile, mildly pale . Case Summary

15. Case Summary Regarding vital signs- Temp -101F H/R -108/min R/R - 36/min BP -100/60 mm Hg.

16. Case Summary Anthropometrically, she is severely wasted and stunted. (Weight- 10kg, Height-98cm, WAZ = -5 SD, WHZ = - 5.8SD ).

17. Case Summary On skin survey, BCG mark present. Multiple white healed lesions were present all over the body.

18. Case Summary

19. Case Summary

20. 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

22. Case Summary There is a defective ear lobule.

23. D/R/E : Perianal skin is normal Anal tone and grip is normal Rectum was loaded stool. Case Summary

24. Case Summary Gastrointestinal system : High arched palate & whitish patches over the tongue. Dental carries present. There was no organomegaly.

25. Case Summary Respiratory system : RR - 36/min. Shape of the chest was normal . Movement was s ymmetrical. Breath sound was vesicular with bilateral crepitation .

26. Examination of other systems revealed normal findings. Case Summary

27. Provisional Diagnosis ?

28. Differential Diagnosis Histiocytosis Cystic fibrosis Tuberculosis Primary immunodeficiency Hyperimmunoglobulin E Syndrome AIDS

29. investigation

30. Investigation Complete blood count: Hb% - 9.4 gm/dL WBC - 11,800/ cmm N-49% -L-14% M-02% -E- 35% Platelets: 3,66,000/ cmm ESR - 95 mm/1 st hour RBC indices : MCV 55.6 fL MCH 15.3 pg MCHC 27.6 gm/dL RDW 22.5%

31. PBF : RBC is Microcytic with hypochromic . WBC count is in upper limits of normal with moderate eosinophil count. Platelet- adequate Investigation

32. Investigation

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 - No growth

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

39. Investigation MRCP : 1. Mildly dilated RHD, LHD, CHD & CBD. Possibly choledochal cyst type Ic . 2. Distended gallblader

40. Investigation

41. Sweat chloride test Chloride : 38.5 mmol/L Normal : <29 mmol HIV 1 &2 (ELISA) : negative/L Investigation

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%).

45. Working Diagnosis Primary immune deficiency (Combined immune deficiency) with Hyper IgE Syndrome

46. 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.

47. 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

48. Classification 1. Combined immunodeficiencies 2. Combined immunodeficiencies with syndromic features 3. Predominantly antibody deficiencies 4. Diseases of immune dysregulation 5. Congenital defects of phagocytes

49. 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

50. Treatment on admission

51. 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

52. Treatment on admission After consultation with department of skin & venereology : Oral terbinefine Ketoconazole shampoo Topical emollient Topical antifungal

53. Treatment After 7 days : Inj. Meropenem Inj vancomycin Inj. Linezolid according to C/S report

54. 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 )

55. Acknowledement Paediatric Surgery Skin & venereology ENT Dentistry Paediatric Hemato-onclogy Radiology Microbiology Rheumatology, BSMMU Respected faculties of our dept. of paediatrics

56. Thank You