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Rania Mohamed El-Sharkawy
rania.elsharkawy@alex-mri.edu.eg
Lecturer of clinical chemistry, MRI-Alexandria University ,CPHQ...
Case study presentation
CHALLENGES in Implant Treatment
A four years old female child ,born with physiological
neonatal jaundice . At the age of six months she
presented with an ...
CASE PRESENTATION
• These attacks were repeated, twice at the age of two
years and 3 times at the age of three ,and twice ...
IMAGING TECHNIQUES
 Ultrasonography

Magnetic resonance
cholangiography


CT

following oral & IV
contrast media
IMAGING TECHNIQUES POSITIVE FINDINGS
 Mild dilatation of the Gall Bladder

Dilatation and irregular caliber of the common...
The following
Laboratory
Investigations
were done
AST & ALT AT THE AGE OF TWO YEARS

1200
AST

1000

Mean

800

600

400

200

0

ALT

Normal
AST & ALT AT THE AGE OF THREE YEARS
3000
AST

ALT

Normal

2500

Mean

2000

1500

1000

500

0
February

March

April

Ma...
AST & ALT AT THE AGE OF FOUR YEARS
1800
1600

AST

ALT

Normal

1400
1200

Mean

1000
800
600
400
200
0
January

February
...
2007

Distribution of AST and ALT
Months

2008
2009

April

February

January

November

July

May

April

March

February...
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

No...
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 bilerub...
Total and direct bilirubin
1.4
Tota l bilerubin

1.2

Direct bilerubin

Norm a l tota l bilerubin

Norm a l direct bilerub...
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
...
800

Alkaline phosphatase
Alk

700

600

Upper normal

Lowest normal

AT THE AGE OF TWO YEARS

Mean

500
400
300
200
100
0...
Alkaline phosphatase
AT THE AGE OF THREE YEARS

800
Alk

700
600

Mean

500
400
300

200
100

Upper normal

Lowest normal
Alkaline phosphatase
AT THE AGE OF FOUR YEARS
800
700

Alk

Upper normal

Lowest normal

600

Mean

500
400
300
200
100
0
...
Distribution of Alk

2007
Months
2008
February

Upper normal

January

November

July

Alk

May

April

March

February

D...
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
...
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
L...
GAMA GLUTMYLE TRANSFERASE
IN THE AGE OF FOUR YEARS
400
350

CGT

Upper normal

Lowest normal

300

Mean

250
200
150
100
5...
2007
2008
2009

April

February

January

November

July

May

April

March

Upper normal

February

December

November

C...
CASE PRESENTATION

OTHER LAB. TESTS…….
(1) Normal PT & PTT
(2) Hb : 9.5 g/dl (Reference range 11.5-14.5)

(3) Bile salts :...
CASE PRESENTATION

OTHER LAB. TESTS…….

(6)Autoimmune tests:
•Antinuclear Abs …..Negative
•Antismooth muscle Abs……Negative...
• 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% ( 730.0-1...
CASE PRESENTATION

SUMMARY
CLINICALLY
• Bile stained vomitus
• Epigastric and right hypochondrial pain
• Pallor & Fatigue
...
WHAT IS THE D.D OF THIS CASE?

WHAT IS THE MOST LIKELY
DIAGNOSIS?
WHAT IS THE DIFFERENTIAL DIAGNOSIS?
1.

Cholestatic liver diseases

2. Autoimmune Hepatitis

3. Hemolytic anemias??????

W...
CASE PRESENTATION

Hemolytic anemia
WITH
•Age of incidence
•Mild spleenomegaly
•Hb 9.5 mg/dl

AGAINST
•Normal trace urobil...
Autoimmune Hepatitis
(International autoimmune hepatitis Group)
•
•
•
•
•
•
•
•

Normal level of alpha 1 antitrypsin
Seron...
Autoimmune Hepatitis
Type I:
Type I: male
-female>
-Any age
-With other autoimmune disease
-Positive ANA, ASMA,Antiactin, ...
CASE PRESENTATION

Autoimmune Hepatitis
WITH
•Age of incidence( 2-14)
•Female> Male
•Signs of fatigue&abd pain
•Mild splee...
CASE PRESENTATION

CHOLESTATIC LIVER DISEASES
1. Mechanical Bile Duct Obstruction
( STONES)
2. Primary Biliary Cirrhosis
3...
CASE PRESENTATION

CHOLESTATIC LIVER DISEASES
2. Primary Biliary Cirrhosis
WITH
•Fatigue(70%)
•Spleenomegaly (15%)
•Gallst...
CASE PRESENTATION

CHOLESTATIC LIVER DISEASES
3. Primary Schelerosing Cholangitis
WITH
•Symptoms(Fatigue 66%,Abd pain 50%,...
CASE PRESENTATION

CHOLESTATIC LIVER DISEASES
3. Autoimmune cholangitis
Same picture of primary biliray cirrhosis with neg...
CASE PRESENTATION

CHOLESTATIC LIVER DISEASES
1. Mechanical Bile Duct Obstruction
( STONES)
•Bile stained vomitus
•Presenc...
A Question needs to be answered?
WHAT ARE THE CAUSES OF STONE
FORMATION?
There are three types of biliary
stones…….
•Cholesterol stone
•Pigmented stone
•Mixed stone
There are three types of biliary
stones…….
•Cholesterol stone
•Bile is supersaturated with cholesterol
Supported by increa...
There are three types of biliary
stones…….
Pigmented Stone

Hemolytic anemia

1.CBC
2. Reticulocytes

Deconjugation of bil...
Congenital anomalies
Anatomical deformities in the bile duct at the level
of the duodenum (Ampullary dysfunction)
This cou...
FINAL DIAGNOSIS
• Colestatic form of liver disease associated lately with
ascending cholangitis needs ERCP for Diagnosis
a...
THANK YOU
Case presentation ( lab investigations of congenital anomalies )
Case presentation ( lab investigations of congenital anomalies )
Case presentation ( lab investigations of congenital anomalies )
Case presentation ( lab investigations of congenital anomalies )
Case presentation ( lab investigations of congenital anomalies )
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Case presentation ( lab investigations of congenital anomalies )

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Congenital anomalies are very hard to detect by the lab investigations ,proper lab investigations and assessment is a challenge and this case is one of the challenges.

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Case presentation ( lab investigations of congenital anomalies )

  1. 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
  2. 2. Case study presentation
  3. 3. CHALLENGES in Implant Treatment
  4. 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. 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. 6. IMAGING TECHNIQUES  Ultrasonography Magnetic resonance cholangiography  CT following oral & IV contrast media
  7. 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
  8. 8. The following Laboratory Investigations were done
  9. 9. AST & ALT AT THE AGE OF TWO YEARS 1200 AST 1000 Mean 800 600 400 200 0 ALT Normal
  10. 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. 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. 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. 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. 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. 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. 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. 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. 18. Alkaline phosphatase AT THE AGE OF THREE YEARS 800 Alk 700 600 Mean 500 400 300 200 100 Upper normal Lowest normal
  19. 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. 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. 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. 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. 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
  24. 24. 2007 2008 2009 April February January November July May April March Upper normal February December November CGT July May 700 April March February Mean 800 Lowest normal 600 500 400 300 200 100 0
  25. 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. 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. 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)
  28. 28. 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
  29. 29. WHAT IS THE D.D OF THIS CASE? WHAT IS THE MOST LIKELY DIAGNOSIS?
  30. 30. WHAT IS THE DIFFERENTIAL DIAGNOSIS? 1. Cholestatic liver diseases 2. Autoimmune Hepatitis 3. Hemolytic anemias?????? What findings are WITH? What findings are AGANIST?
  31. 31. 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%
  32. 32. 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
  33. 33. 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
  34. 34. 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
  35. 35. 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
  36. 36. 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%)
  37. 37. 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
  38. 38. 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
  39. 39. 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
  40. 40. A Question needs to be answered? WHAT ARE THE CAUSES OF STONE FORMATION?
  41. 41. There are three types of biliary stones……. •Cholesterol stone •Pigmented stone •Mixed stone
  42. 42. 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)
  43. 43. 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
  44. 44. 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
  45. 45. 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
  46. 46. THANK YOU

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