Case presentation ( lab investigations of congenital anomalies )
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This document presents a complex case study of a four-year-old girl with recurrent episodes of bile-stained vomitus and abdominal pain, highlighting the challenges of diagnosis related to her liver function tests and imaging findings. The clinical findings suggest potential diagnoses including cholestatic liver diseases, autoimmune hepatitis, and hemolytic anemia, while ruling out various viral infections and autoimmune markers. A final diagnosis points towards a cholestatic form of liver disease, potentially linked to autoimmune hepatitis type II, with recommendations for further assessment and treatment options.
Case presentation ( lab investigations of congenital anomalies )
- 1. Rania Mohamed El-Sharkawy rania.elsharkawy@alex-mri.edu.eg Lecturer of clinical chemistry, MRI-Alexandria University ,CPHQ,LSSGB Health governance –MRI-Alex university unit coordinator IHI Egypt & NAHQ member
- 3. CHALLENGES in Implant Treatment
- 4. A four years old female child ,born with physiological neonatal jaundice . At the age of six months she presented with an attack of : Bile stained vomitus Epigastric and right hypochondrial pain Pallor & fatigue
- 5. CASE PRESENTATION • These attacks were repeated, twice at the age of two years and 3 times at the age of three ,and twice at the age of four .These last two attacks were associated with fever???? • In between the attacks the girl was totally free except for transient attacks of epigastric pain • During these attacks the following was done:
- 6. IMAGING TECHNIQUES Ultrasonography Magnetic resonance cholangiography CT following oral & IV contrast media
- 7. IMAGING TECHNIQUES POSITIVE FINDINGS Mild dilatation of the Gall Bladder Dilatation and irregular caliber of the common bile duct with (3-5 ) 5 mm stones , no intrahepatic biliary dilatation The spleen was slightly enlarged Liver and pancreas were totally free In between the attacks there were no stones but the G.B remained dilated and also was the CBD
- 9. AST & ALT AT THE AGE OF TWO YEARS 1200 AST 1000 Mean 800 600 400 200 0 ALT Normal
- 10. AST & ALT AT THE AGE OF THREE YEARS 3000 AST ALT Normal 2500 Mean 2000 1500 1000 500 0 February March April May Months Distribution of AST and ALT between the age of 3-4 years July November
- 11. AST & ALT AT THE AGE OF FOUR YEARS 1800 1600 AST ALT Normal 1400 1200 Mean 1000 800 600 400 200 0 January February Months Distribution of AST and ALT at the age of four April
- 12. 2007 Distribution of AST and ALT Months 2008 2009 April February January November July May April March February December ALT November AST July May April March February Mean 3000 2500 Normal 2000 1500 1000 500 0
- 13. Total and direct bilirubin 1.4 Total bil 1.2 1.0 Mean 0.8 0.6 0.4 0.2 Direct bilerubin Normal total bilerubin Normal direct bilerubin
- 14. Total and direct bilirubin 1.4 Total bilerubin 1.2 1.0 Mean 0.8 0.6 0.4 0.2 Direct bilerubin Normal total bilerubin Normal direct bilerubin
- 15. Total and direct bilirubin 1.4 Tota l bilerubin 1.2 Direct bilerubin Norm a l tota l bilerubin Norm a l direct bilerubin 1.0 Mean 0.8 0.6 0.4 0.2 0.0 January February Months Distribution of total bil and direct bil in 2009(age of 4) April
- 16. 1.4 Total bil 1.2 Direct bilerubin Normal total bilerubin Normal direct bilerubin 0.8 0.6 0.4 0.2 2007 2008 Months Distribution of total bil and direct bil 2009 April February January November July May April March February December November July May April March 0.0 February Mean 1.0
- 17. 800 Alkaline phosphatase Alk 700 600 Upper normal Lowest normal AT THE AGE OF TWO YEARS Mean 500 400 300 200 100 0 February March April May July Months Distribution of Alk in 2007 between the age of (2-3) November December
- 18. Alkaline phosphatase AT THE AGE OF THREE YEARS 800 Alk 700 600 Mean 500 400 300 200 100 Upper normal Lowest normal
- 19. Alkaline phosphatase AT THE AGE OF FOUR YEARS 800 700 Alk Upper normal Lowest normal 600 Mean 500 400 300 200 100 0 January February Months Distribution of Alk in 2009 in between the age of (4-5) April
- 20. Distribution of Alk 2007 Months 2008 February Upper normal January November July Alk May April March February December November July May April March February Mean 800 700 Lowest normal 600 500 400 300 200 100 0 2009
- 21. GAMA GLUTMYLE TRANSFERASE AT THE AGE OF TWO YEARS 350 CGT Upper norm a l Lowest norm a l 300 Mean 250 200 150 100 50 0 February March April May July Months Distribution of GGT in 2007(age of 2) November December
- 22. GAMA GLUTMYLE TRANSFERASE AT THE AGE OF THREE YEARS 800 800 CGT CGT 700 700 Upper norm a l Upper norm Lowest norm a l Lowest norm a l 600 600 Mean Mean 500 500 400 400 300 300 200 200 100 0 February March April May Months July Distribution of GGT in 2008(age of 3) the age of (3-4) 2008 between Novembe
- 23. GAMA GLUTMYLE TRANSFERASE IN THE AGE OF FOUR YEARS 400 350 CGT Upper normal Lowest normal 300 Mean 250 200 150 100 50 0 January February Months Distribution of GGT in 2009 at the age of 4 April
- 25. CASE PRESENTATION OTHER LAB. TESTS……. (1) Normal PT & PTT (2) Hb : 9.5 g/dl (Reference range 11.5-14.5) (3) Bile salts : 3.0 µmol/l ( Reference up to 8.1) (4) Cholesterol 220 mg/dl (140-200 mg/dl) (5)ALL VIRAL INFECTIONS WERE EXCLUDED: 1. Hepatitis A virus IgM 2. Hepatitis B 3. Hepatitis c 4. EBV IgM 5. CMV IgM
- 26. CASE PRESENTATION OTHER LAB. TESTS……. (6)Autoimmune tests: •Antinuclear Abs …..Negative •Antismooth muscle Abs……Negative •Antimitochondrial Abs……..Negative •Antineutrophil cytoplasmic Abs….Negative •Anti liver kidney microsomal Abs……Positive
- 27. • OTHER LAB. TESTS……. •Plasma protein 6.7 mg/dl •Albumin 3.5 mg/dl •Globulins 3.2(2.0-3.8) •Serum IgG 704.0 mg% ( 730.0-1350.0) •Serum IgM 66.8 mg% (80.0-150.0) • Serum IgA 62.3mg/dl (70.0-227.0md/dl)
- 33. CASE PRESENTATION SUMMARY CLINICALLY • Bile stained vomitus • Epigastric and right hypochondrial pain • Pallor & Fatigue RADIOLOGICALLY •Mild dilatation of the Gall bladder •Dilatation and irregularity of the common bile duct with (3-5 ) 5 mm stones that disappear in between the attacks •The spleen is slightly enlarged LABORATORY •Marked elevation of AST & ALT •Elevated ALK & GGT •Mild anemia •PositiveLKM1Abs
- 34. WHAT IS THE D.D OF THIS CASE? WHAT IS THE MOST LIKELY DIAGNOSIS?
- 35. WHAT IS THE DIFFERENTIAL DIAGNOSIS? 1. Cholestatic liver diseases 2. Autoimmune Hepatitis 3. Hemolytic anemias?????? What findings are WITH? What findings are AGANIST?
- 36. CASE PRESENTATION Hemolytic anemia WITH •Age of incidence •Mild spleenomegaly •Hb 9.5 mg/dl AGAINST •Normal trace urobilinogen in urine •CBC is normal with normochromic normocytic anemia •No reticulocytes •Coomb`s test negative •Osmotic fragility test negative •Sickling test negative •Normal Hb electrophoresis ( Hb A 97% & Hb A2 3%
- 37. Autoimmune Hepatitis (International autoimmune hepatitis Group) • • • • • • • • Normal level of alpha 1 antitrypsin Seronegativity for IgM Antiviral hepatitis Negative CMV Negative EBV Low ethanol ingestion No recent use of hepatotoxic drugs Serum gammaglobulins IgG> 1.5% of normal Positive ANA,ASMA, LKM1 Liver biopsy to rule out other lesions
- 38. Autoimmune Hepatitis Type I: Type I: male -female> -Any age -With other autoimmune disease -Positive ANA, ASMA,Antiactin, increased gamma globulins in 97% of cases Type II: -Girls ages 2-14 years --Signs of fatigue & abdominal pain -LKM1 & increased gamma globulins Type III: -female> male -Age between 20-40 -Positive SLA
- 39. CASE PRESENTATION Autoimmune Hepatitis WITH •Age of incidence( 2-14) •Female> Male •Signs of fatigue&abd pain •Mild spleenomegaly •ElevatedAST & ALT •Elevated ALK & GGT •Increased ALKM1Abs •Negative CMV,EBV AGAINST •Normal imaging of the liver •Normal Bilirubin???? •No increase in gamma globulins
- 40. CASE PRESENTATION CHOLESTATIC LIVER DISEASES 1. Mechanical Bile Duct Obstruction ( STONES) 2. Primary Biliary Cirrhosis 3. Primary Sclerosing Cholangitis 4.Autoimmune cholangitis 5.Congenital anomaly in the CBD 6. Drug Induced Cholestasis
- 41. CASE PRESENTATION CHOLESTATIC LIVER DISEASES 2. Primary Biliary Cirrhosis WITH •Fatigue(70%) •Spleenomegaly (15%) •Gallstones (30%) •Elevated Aminotransferases •Elevated GGT & ALP •Elevated cholesterol AGAINST •Age of the case (50 years) •Imaging (no periportal halo sign) •Usually associated with other autoimmune disease •Increased bilirubin •Positive antimotochondrial Abs(sene 98%, spec 96%) & negative Antinuclear Abs(35%)
- 42. CASE PRESENTATION CHOLESTATIC LIVER DISEASES 3. Primary Schelerosing Cholangitis WITH •Symptoms(Fatigue 66%,Abd pain 50%,Fever/ cholangitis 13-45%) •spleenomegaly •Elevated Aminotransferases (3x increase) •Elevated ALP(3x higher) •Normal bilirubin AGAINST •Age of the case (30 years) •Predominates in males •Imaging shows no beading of the bile duct •Positive Antineutrophil cytoplasmic Abs ( ANCA) in 80% of cases
- 43. CASE PRESENTATION CHOLESTATIC LIVER DISEASES 3. Autoimmune cholangitis Same picture of primary biliray cirrhosis with negative AMA may overlap with autoimmune hepatitis Liver biopsy is the gold standard
- 44. CASE PRESENTATION CHOLESTATIC LIVER DISEASES 1. Mechanical Bile Duct Obstruction ( STONES) •Bile stained vomitus •Presence of stones by imaging techniques •Increased plasma activities of canalicular enzymes ALP & GGT • Increased cytosolic enzymes AST & ALT •Bilirubin is not increased so this is partial obstruction
- 45. A Question needs to be answered? WHAT ARE THE CAUSES OF STONE FORMATION?
- 46. There are three types of biliary stones……. •Cholesterol stone •Pigmented stone •Mixed stone
- 47. There are three types of biliary stones……. •Cholesterol stone •Bile is supersaturated with cholesterol Supported by increased cholesterol ( diet or genetic) •Decreased bile acid secretion (terminal ileal disease, cholestatic liver diseases)
- 48. There are three types of biliary stones……. Pigmented Stone Hemolytic anemia 1.CBC 2. Reticulocytes Deconjugation of bilirubin due to cholestasis & infection 3. Coomb`s negative 4.Osmotic fragility negative 1.Stone formation 2.Sickling test 2.Congenital anomaly
- 49. Congenital anomalies Anatomical deformities in the bile duct at the level of the duodenum (Ampullary dysfunction) This could be diagnosed and treated by ERCP Due to the her age 4 years and her size ERCP couldn't be done 8.3 - 10.3 years SO if these attacks become life threatening so Cholecystectomy and biliary diversion is the only solution
- 50. FINAL DIAGNOSIS • Colestatic form of liver disease associated lately with ascending cholangitis needs ERCP for Diagnosis and treatment • Autoimmune hepatitis (type II) and/or autoimmune cholangitis • need liver biopsy for further assessment I HOPE THAT WE COULD HELP HER TO GET HER SMILE BACK
- 51. THANK YOU
Editor's Notes
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