Thalassemia cpc

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CASE AND TOPIC PRESENTATION IN CLINICO PATHOLOGICAL CONFERENCE IN SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTAN

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<ul><li> 1. Saturday, February 8, 2014pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, Pakistan1</li></ul><p> 2. A young boy known case of beta Thalassemia Major 3. Resham kareem Roll no 354 Final year MBBSSaturday, February 8, 2014pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, Pakistan3 4. Abdul Manan s/o Jamil Ahmad 6 years Resident of Kott Samaba Presented through Pediatrics Emergency on 1st Feb 2014Saturday, February 8, 2014pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, Pakistan4 5. FeverVomitingAltered level of consciousnessYellowish discoloration of eyes and urineSaturday, February 8, 20142 dayspediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, Pakistan1 day5 6. Patient is a known case of Beta Thalassemia Major diagnosed at the age of 6 months.He was in his usual state of health 2 days back when he developed high grade fever which was sudden in onset,, intermittent and not associated with rigors and chills, flu, and cough. Fever was relieved by medication.Fever was associated with vomiting, 2-3 times per day, vomitus was yellow in color and contained food particles but no h/o blood in vomitus.Saturday, February 8, 2014pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, Pakistan6 7. He developed altered level of consciousness and irritable behavior. It was associated with drowsiness, confusion, disorientation and mood swings.My patient developed yellow discoloration of eyes and urine , which was associated with itching and bruises.Saturday, February 8, 2014pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, Pakistan7 8. There was H/O poor intake of both liquid and solid.CVS: There is H/O breathlessness on exertion but no Edema feet or cyanosis.Respiratory system: No H/O cough, wheezing or chest painGUS: There is H/O Pain in flank, dysuria, oliguria and yellow colored urineGIT There is no H/O of diarrhea, constipation, hematemesis or melena, clay colored stoolSaturday, February 8, 2014pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, Pakistan8 9. CNS:No H/O of fits, visual loss and weakness.EndocrineNo H/O polydipsia, polyphagia, heat or cold intolerance.Locomoter systemThere is no H/O of joint pain, swelling and stiffness of joint.Saturday, February 8, 2014pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, Pakistan9 10. Diagnosis At 6 month of age diagnosed as Thalassemia Major in SZH,RYK when he presented with progressive pallor, fever and vomiting. Transfusion History Blood transfusion started from 6 months of life. First 3 years, transfusion at monthly interval Afterwards, transfusion at 15 days interval. Chelation therapy Never taken yet because of no awarenessSaturday, February 8, 2014pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, Pakistan10 11. Pregnancy: No history of infection, drug intake, trauma or irradiation to motherDelivery: Birth by uneventful SVD in Private hospital by a doctorSaturday, February 8, 2014pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, Pakistan11 12. Breast feeding Exclusively breast fed for 6 months Weaning Started at 7th month Contained daliya, cerelac, fruits Current diet Home made foodSaturday, February 8, 2014pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, Pakistan12 13. major milestones achieved Smile: 1 month Neck holding: 3 months Sitting 7 months Crawling: 10 months Standing: 1 year Walking: 15 months Talking single word: 1 year Accurate speech: 1.5 years All milestones achieved at normal age Saturday, February 8, 2014pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, Pakistan13 14. BCG penta 1, OPV 1, Penta 2, OPV 2, Penta 3, OPV 3, Measles I Measles IIat Birth 06 wks 10 wks 14 wks 09 months 15 monthsImmunization status complete according to EPI schedule.Saturday, February 8, 2014pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, Pakistan14 15. Age of mother: 35 years Age of father: 40 years Both are confirmed cases of Thalassemia Minor Cousin Marriage 4 live siblings 1st sibling: M, 9 yrs., known case of Thalassemia Major 2nd sibling: M, 7 yrs, known case of Thalassemia Minor 3rd &amp; 4th: twin F, 2 yrs, known case of Thalassemia Minor Saturday, February 8, 2014pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, Pakistan15 16. There is no other history of hereditary or infectious diseaseDeath: 1st immediately after birth(cause unknown) 2nd spontaneous abortion at 4th month of gestationSaturday, February 8, 2014pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, Pakistan16 17. Education of parents: Mother: Intermediate father: matriculation Occupation: father: shopkeeper Monthly Income: 30,000 PKR House: pukka 2 rooms locality: village sanitary condition: goodBlood is donated by the blood bank of SZH,RYK Saturday, February 8, 2014pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, Pakistan17 18. water supply: proper and underground Fresh water Good sanitationSaturday, February 8, 2014pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, Pakistan18 19. Behavior of Child: Habit and interests: Class School performance:Saturday, February 8, 2014positive positive two goodpediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, Pakistan19 20. Pt. received PARACETAMOL for fever in usual dose Pt. also received FURECIMIDE for oliguriaSaturday, February 8, 2014pediatric department, Sheikh Zayed Medical College/Hospital, Rahim Yar Khan, Punjab, Pakistan20 21. EXAMINATION,21INVESTIGATIONS AND MANAGEMENTMUHAMMAD SALMAN ROLL NO. 314 FINAL YEAR 22. Examination at the time of admission226 year old child pale looking having jaundice, not oriented, irritable, drowsy &amp; some dehydrated having vitals H/R 110/min R/R 24/min temp 102 F BP 85/60 mm of Hg 23. General physical examination (current) Abdul Manan, 6 year old boy, average built, Well cooperative and well oriented in time, place and person lying comfortably in the bed. No obvious dysmorphismrespiratorydistress,cyanosisPulse rate:92/minRespiratory rate:18/minBlood pressure:100/65 mm of HgTemperature:99 Fand 24. Anthropometric measurements Headcircumference: 51cm Height: 107cm (5th centile) Weight: 17 kg24 25. 25 Pallor jaundice POSITIVE Bruises on skin THALASSEMIC FACIES clubbing koilonychias, NEGATIVE leuconychia . palmer erythema Lymph node and thyroid are not palpable. JVP not raised. Ankle and sacral edema is absent. 26. GIT 26Orodental hygiene is satisfactory with protrusion of maxillary teethABDOMINAL EXAMINATION INSPECTION abdomen is distended, moving with respiration with no stria, scar mark, dilated veins. Umbilicus is central and inverted, hernial orifices are intact.PALPATION there is no tenderness, liver is palpable 8cm below the Right costal margin in midclavicular line, firm in consistency, sharp edges, upper border is in 5th ICS with a total span of 14.4 cm. Spleen is also enlarged measuring 10cm below the costal margins , firm in consistency with sharp edges Kidneys are impalpable bimanually bladder not distended 27. 27PERCUSSION note is resonant all over except in the region of liver and spleen, where it is dull.no shifting dullness and fluid thrillAUSCULTATION : bowel sounds are audible, no bruit is audible. 28. CVS28INSPECTION: apex beat is not visible, there are no pulsation, prominent veins or scarPALPATION: apex beat is palpable in 5th intercostal space medial to mid clavicular line and is of normal character. No other sounds, thrill or left parasternal heave is palpable.AUSCULTATION: 1st and 2nd heart sounds are of normal character with no added sound 29. CNS29Higher mental functions are intact. Speech is normal. Cranial nerves are intact Motor and sensory systems are normal No sign of meningeal irritation are present. Gait is normal GROSSLY INTACT 30. Respiratory system There is normal vesicular breathing on auscultation with no added sounds. 30 31. 31INVESTIGATIONS 32. Complete Blood Count Hb:6.9gm/dl T.L.C:5500/mm3 Neutophil:77% Lymphocyte: Eosinophils; 4% monocytes: Platelets:18%1%25,000/mm332 33. PERIPHERAL MORPHOLOGY Dimorphic picture ++ Microcytosis ++ Hypochromic, ++ anisocytosis, ++ poikilocytosis, + target cells few Schistiocytosis 1 NRBC/ 100 WBCs Reticulocyte count : 3.8 % 33 34. Hb electrophoresis Done at the age of 6 months Hb F: 98.1 % Hb A2: 1.9 % Hb A: 0 %34 35. Serum ferritin level:&gt;2000ng/ml (normal-less than 400)Serum LFTs: Bilirubin=9.5mg/dl ALT=1261 IU/l AST=739 IU/lSerum alkaline phosphatase=486U/LSerum albumin = 3 g/dlSerum RFTs: Blood urea= 203 mg/dlCreatinine= 1.4 mg/dlPT : control 18, test14APTT : control 39 test3335 36. Serum electrolyte: Sodium=131mmol/L36Potassium=3.4mmol/L ECG ----- normalUltrasound of abdomen: hepatospleenomegaly, PV vein size is normalAnti HCV: positive , HbSAg: negative (result for anti HCV by ELISA awaited)Complete urine examination : pus cell 4-6/hpf albumin +Blood sugar (random): 90 mg/dl Thyroid function testT4TSH1.39ng/dl4.41IU/mlnormal 37. 37Skull X-ray lateral view : thinning of cortex and widening 38. 38CXR ------ heart size is normal 39. FINAL DIAGNOSIS BETA THALLASEMIA MAJOR WITH complications hepatic encephalopathy (stage II) Hepatorenal syndrome/ARFHyperspleenism39 40. 40TREATMENT GIVEN IN THE HOSPITALRIMSHA NAZIR ROLL NO.201 FINAL YAER 41. MAINTENANCE OF ABC and monitoring of vitalsNG tube and foley catheter passedHydrationI/V antibioticsLactuloseEnemaVit. KAminoglycoside through NG tubeCimetidineBlood transfusion41 42. TREATMENT OUTCOME 07.02.2014 Now pt. is fully conscious, co-operative, oriented in time, space and person with stable vitals.His current investigationsLFTs bilirubin 3.7 mg/dl ALT272 IU/LAST129 IU/LAl.phos 326 IU/L CBCHb.7.7 g/dlRFTsurea32 mg/dlCreatinine0.8mg/dl blood transfusion advised42 43. THALASSEMIA Dr. ZAHID MEHMOOD FCPS-II Resident Pediatric Dept. 44. INTRODUCTION BASIC 3 TYPESHb A Hb A2 Hb F2 + 2 2 + 2 2 + 21.The -globin genes are encoded on chromosome 16 , 2. , , and -globin genes are encoded on chromosome 11 PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTANSaturday, February 8, 201444 45. fetal period1ST TRIMESTER HB F ,2nd trimester Hb A, 3rd trimesterHb A2At birth appears Hb F 98% gradually decline till 6months At 6 monthsHb A &gt;95%,Hb A2 3.5 %,Hb F 6gm% Anemia worsens with pregnancy and infections (erythroid stress) Less transfusion dependant Skeletal changes present, progressive splenomegaly Growth retardation Longer survival than Thalassemia majorPEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTANSaturday, February 8, 201463 64. CLINICAL FEATURES (THALASSEMIA MINOR) Usually ASYMPTOMATIC Mild pallor, no jaundice No growth retardation, no skeletal abnormalities, no splenomegaly MAY PRESENT AS REFRACTORY IRON DEFICIENCY ANEMIA (Hypochromic microcytic anemia) Unresponsive/ refractory to Fe therapy Normal life expectancy PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTANSaturday, February 8, 201464 65. DIAGNOSIS BLOOD PICTUREHb reduced (3-9mg/dl) RBC count increased WBC, platelets normal, PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTANSaturday, February 8, 201465 66. PERIPHERAL BLOOD PICTURE RBC indices MCV &amp; MCH,MCHC reduced microcytic hypochromic anemia, anisopoikilocytosis, target cells, nucleated RBC, leptocytes, basophilic stippling, tear drop cells Cytoplasmic incl bodies in thal Post splenectomy : Howell-Jolly and Heinz bodies Reticulocyte count increased (upto 10%) but Relative ReticulocytopeniaPEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTANSaturday, February 8, 201466 67. Total. Bilirubin &amp; Indirect. bilirubin increased B.M. study: hyperplastic erythropoiesisPEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTANSaturday, February 8, 201467 68. Hb ELECTROPHORESIS Beta Thalassemia MajorHb F: 98 % Hb A2: 2 % Hb A: 0 % PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTANSaturday, February 8, 201468 69. X ray skull: hair on end appearance or crew-cut appearance PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTANSaturday, February 8, 201469 70. IRON OVERLOAD ASSESSMENT S.Ferritin Urinary Fe excretion Liver biopsy - standard Myocardial-liver MRI indexes PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTANSaturday, February 8, 201470 71. TREATMENT Supportive Treatment Psychological/social support Blood Transfusion Chelation Therapy ( For iron overload) Surgical Bone marrow transplant Newer therapy PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTANSaturday, February 8, 201471 72. SUPPORTIVE TREATMENT Vitamin C increases iron excretion Restrict Fe intake decrease meat, liver, spinach Folate 1 mg/day Genetic counselling Psychological support Hormonal therapy GH, estrogen, testosterone, thyroxinPEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTANSaturday, February 8, 201472 73. PSYCHOLOGICAL/SOCIAL SUPPORT WISH BLOOD DONATION MORAL SUPPORT CHELATION THERAPYPEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTANSaturday, February 8, 201473 74. BLOOD TRANSFUSION BT at 4-6 wks interval Packed RBC, leucocyte-poor Hb to be maintained (Hb &gt;10.5 gm/dl) If regular transfusions and chelation - no hepatomegaly, no facies 10-15ml/kg RBC raises Hb by 3-5gm/dl PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTANSaturday, February 8, 201474 75. CHELATION THERAPY ( 1 unit of blood contains 250 mg iron) DESFERRIOXAMINE DEFERIPRONE DEFERASIROXPEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTANSaturday, February 8, 201475 76. BONE MARROW TRANSPLANTATION Severely affected child Minimum transfusions No iron toxicity Age usually &lt; 5 years HLA identical donor (sib) Risk factors: Hepatomegaly &gt;2cm Portal fibrosis Iron overload Older age Success rate In low risk young patients, the 5yr thalassemia free survival rate is 73 -94% at National Institute of Blood Disease &amp; Bone Marrow PEDIATRIC DEPARTMENT, SHEIKH ZAYED MEDICAL COLLEGE/HOSPITAL, RAHIM YAR KHAN, PUNJAB, PAKISTANTransplantation, KarachSaturday, February 8, 201476 77. SURGICAL TRE...</p>