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Primary immunodeficiency_shimu_final.pptx

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shewly shimu das

This case summary describes an 8-year-old girl admitted to the hospital with multiple chronic issues including skin lesions, fever, cough, and poor growth. She has a history of recurrent skin infections, oral ulcers, ear infections, and gastrointestinal problems. Initial workup showed anemia, elevated inflammatory markers, and immunodeficiency. A working diagnosis of combined immunodeficiency and Hyper IgE syndrome was made. She is being treated with antibiotics, antifungals, IVIG, and workup is ongoing.

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GRAND SESSION Dr. Shewly Das Assistant Registrar PU- 03 Deptartment Of Paediatrics Dhaka Medical College Hospital
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
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.
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.
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.
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
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
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.
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
Case Summary Since 6 months of age - Recurrent oral ulcer Recurrent Ear infection Dental carries Itchy, red eye Sore throat
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.
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 isnt 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.
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
General examination : The child was ill looking, febrile, mildly pale. Case Summary
Case Summary Regarding vital signs- Temp -101F H/R -108/min R/R - 36/min BP -100/60 mm Hg.
Case Summary Anthropometrically, she is severely wasted and stunted. (Weight- 10kg, Height- 98cm, WAZ = -5 SD, WHZ = - 5.8SD ).
Case Summary On skin survey, BCG mark present. Multiple white healed lesions were present all over the body.
Case Summary
Case Summary
Case Summary
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
Case Summary There is a defective ear lobule.
D/R/E : Perianal skin is normal Anal tone and grip is normal Rectum was loaded stool. Case Summary
Case Summary Gastrointestinal system : High arched palate & whitish patches over the tongue. Dental carries present. There was no organomegaly.
Case Summary Respiratory system : RR - 36/min. Shape of the chest was normal . Movement was symmetrical. Breath sound was vesicular with bilateral crepitation.
Examination of other systems revealed normal findings. Case Summary
Provisional Diagnosis
Differential Diagnosis Histiocytosis Cystic fibrosis Tuberculosis Primary immunodeficiency Hyperimmunoglobulin E Syndrome AIDS
INVESTIGATION
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 -95mm/1st hour RBC indices : MCV 55.6 fL MCH 15.3 pg MCHC 27.6 gm/dL RDW 22.5%
PBF : RBC is Microcytic with hypochromic . WBC count is in upper limits of normal with moderate eosinophil count. Platelet- adequate Investigation
Investigation
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
MT- Negative Sputum for gene x pert - MTB not detected Stool for ultra gene x pert - MTB not detected Investigation
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
Biopsy from Lymph node and the non healing ulcer was done on 13.09.23 Investigation
Investigation Culture & sensitivity of skin scrapping: -Methicillin resistant staphylococcus aureus (MRSA) -Sensitive to vancomycin & linezolid
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
Investigation MRCP : 1. Mildly dilated RHD, LHD, CHD & CBD. Possibly choledochal cyst type Ic. 2. Distended gallblader
Investigation
Sweat chloride test Chloride : 38.5 mmol/L Normal : <29 mmol HIV 1 &2 (ELISA) : negative/L Investigation
Investigation HRCT of chest : Normal study. No abnormal opacifications in air space or any cystic changes is seen.
Investigation S. Ig E : -1765 IU/L (2023) -2995 IU/L( 2021) S. Ig A : -3.42 gm/L
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%).
Primary immunodeficiency_shimu_final.pptx
Working Diagnosis Primary immune deficiency (combined) with Hyperimmunoglobulin E syndrome
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.
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
Classification 1. Combined immunodeficiencies 2. Combined immunodeficiencies with syndromic features 3. Predominantly antibody deficiencies 4. Diseases of immune dysregulation 5. Congenital defects of phagocytes
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
Treatment on admission
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
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
Treatment Choledochal cyst : Radical excision of the cyst with reconstruction of the biliary tract using a Roux-en-Y loop of jejunam.
Treatment After 7 days : Inj. Meropenem Inj vancomycin Inj. Linezolid according to C/S report Inj.Tazobactam-
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 )
Acknowledement Paediatric Surgery Skin & venereology ENT Dentistry Paediatric Hemato-oncology Paediatric gastroenterology Radiology Microbiology Rheumatology, BSMMU and Respected faculties of our dept. of paediatrics
Thank You

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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 isnt 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.
  • 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 symmetrical. Breath sound was vesicular with bilateral crepitation.
  • 26. Examination of other systems revealed normal findings. Case Summary
  • 28. Differential Diagnosis Histiocytosis Cystic fibrosis Tuberculosis Primary immunodeficiency Hyperimmunoglobulin E Syndrome AIDS
  • 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 -95mm/1st 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
  • 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
  • 39. Investigation MRCP : 1. Mildly dilated RHD, LHD, CHD & CBD. Possibly choledochal cyst type Ic. 2. Distended gallblader
  • 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%).
  • 46. Working Diagnosis Primary immune deficiency (combined) with Hyperimmunoglobulin E syndrome
  • 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

Editor's Notes

  • #2: 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.
  • #9: subsided by taking oral or parenteral antibiotics
  • #11: SHE has a long history. mother complaints many more things. these are ..
  • #13: As she is chronically ill she cant attend school regulary. actually this disease process haults her daily activity.
  • #14: except some selective food that causes vomiting, abdominal distension and intense itching.
  • #18: here patches of inflamed skin is present. flaking,scalying, oozing and crusted areas are also present.this picture is more magnified in next slides.
  • #19: Here some more pictures showing Ulcerative lesions were observed over the scalp, behind the ear., scarring & hair loss.
  • #20: Same type of lesions are also [present over foot, popliteal fossa
  • #21: 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.
  • #23: due to intense itching and repeated skin infection
  • #24: Though there is a h/o painless per rectal bleeding ,we found normal findings on digital rectal examination.
  • #25: Oral cavity shows high arched palate.dental carries present over all teeth including permanent and deciduous.
  • #29: We also thought about atopic dermatis, tinea corporis ,IBD,celiac disease
  • #30: To reach the dx we hv done some relevant investigations
  • #31: Reduced hb level with eosinophilia with markedly increased ESR
  • #33: This the chest x ray which shows inhomogeneous opacity present in the both lung field . hypoplastic first rib. on the right side
  • #34: Culture is prepared from Skin, Sputum, Blood & Stool & urine to determine proper antibiotics. Ure shows pH 5,
  • #35: No mtb was detected in sputum and stool ultra gene xpert
  • #36: Ferritin 7-142 for 6m to 15yrs,iron 37-170, TIBC 274-494
  • #37: 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.
  • #39: As the child was complaining recurrent upper abd pain, we did usg of w/a which showed..
  • #41: 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
  • #42: >60mm0l/l
  • #43: No abnormal opacifications in air space or any cystic changes is seen.
  • #45: Here lymphocyte subset through (flow cytrometry is seen.. From peripheral blood
  • #46: 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. ,
  • #47: Still we r working on this.
  • #48: This Table shows the Warning Signs for Suspicion of Primary Immuno-deficiency Disorders ()
  • #49: Our patient meets almost all of this critereia ..now we r planning to send this patient for extended PID panel and genetic sequencing.
  • #50: 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:
  • #53: We gave some Supportive management.like. Though digital rctal exam findings found normal we consulted with p.gastroenterology &advised to do colonoscopy.
  • #54: 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 drugsoral 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.
  • #55: 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.
  • #56: As the wound wasnt 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
  • #57: 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)
  • #58: We grateful to the department of