Case presentation

Dr. Calin Lazar

Dr. Csilla Szabo
Patient History
• Pacient aged 1 year and 7 months old, F, living in urban area
• Presentation for pale skin and jaundice
• Family history:
- mother with hypothiroidism and Rh negative blood type.
- grandfather (on the mother side) : type II diabetes
- parents are related – third degree
• Personal physiological history: first child, born at 36W,
physiologically developed pregnancy, W=3500g, L=55cm, with
an Apgar score of 10. Did not suffer of neonatal jaundice.
Breastfed for 11 months, started food diversification at 7
months old, fully vaccinated according to national vaccination
schemes.
• Without personal pathological history
• Living conditions are satisfactory
History of present illness
• Insidiously onset of the disease :
- pale skin and jaundice
- abdominal pain.

• General practitioner-> Hb= 5.8 g/dl – the reason

of sending the patient to our hospital unit for
evaluation and treatment
Physical exam
• weight= 10 Kg
• stable general condition
• psycho-motor agitation
• pale skin and sclera with jaundice
• rhytmic hearts sounds, tachycardia, systolic murmur (I/II grade)
• flat abdomen which moves with the breathing,
• liver placed 2 cm below the ribcage.
• spleen with lower pole at 0,5 cm
• physiological intestinal transit
• without signs of meningeal irritation
CLINICAL/FIRST DIAGNOSIS

• Anemic syndrome

• Jaundice syndrome
 PALOARE

Hb, Ht, H N

CAUZE SUBIECTIVE VASOCONSTRICȚIE

PERIFERICĂ
Lumina artificială Șoc
ANEMIE Particularități individuale Hipoglicemie
Sincopă
Durere (migrenă, etc).
Iron, folic acid Bone marrow Reticulocytes

DECREASED PRODUCTION Adult RBC

Spleen Circulation 120 days

HEMOLYSIS BLOOD LOSS

ANEMIA
 1. Icter hemolitic 2. Hipo-albuminemie

Bilirubina 3. Icter pre-

microsomal
neconjugata
↑
Microsom 4. Icter
microsomal

5. Icter post-
microsomal
Bilirubina
conjugata
↑ 6. Icter
colestatic
Lab investigations 12-13.10.2015
Blood group AII Rh pozitive
Complete blood count: Peripheral blood smear
Red blood cells=2,46mil/mmc Lymfocytes=54,6%
Hemoglobin =5,6 g/dl Neutrophils =34,7%
Hematocrit =20,2% Eosinophils=2,4%
VEM=62,1 fl Monocytes=7,5%
Hem=22,8 pg Basophils=0,8%
CHEM=31 g/dl
Leucocytes=11 240/ul
Reticulocytes=68% = 167.000/mmc
Serum iron 89 mg/dl
Transferrin 6.9mg/dl
Thrombocytes=165,000/mmc
Lab investigations 12-13.10.2015

Total bilirubin =3.98mg/dl Ab HCV Ig G nonreactive

Direct bilirubin =0.78 mg/dl Ag HBS negative
Indirect bilirubin =3.2 mg/dl (80%) Ab EBV(EBNA) Ig G = neg
AST=43 U/l Ab Toxo Ig G = nonreactive
ALT=15 U/l Ab Toxo Ig M = nonreactive
FA =161 U/l Ab anti CMV Ig G = reactive
Gama GT=9 U/l Ab anti CMV Ig M = negative
Cholinesterase= 8614 U/l
Total protein count =6.2g/dl Ig A=83mg/dl(14-108)
Albumin =4.2 g/dl Ig G =627 mg/dl(500-1200)
LDH = 250 U/l Ig M=82 mg/dl(43-239)
CPK =38 U/l total IgE= 13.1 U/l(<10)
Urea= 30 mg/dl
Creatinine =0.33 mg/dl
PCR =0.4 mg/dl
Abdominal Echography

Homogenous liver with normal structure and size, PV hepatopet

bloodflow, MBT without dilatations
Transonic gallbladder without lithiasis.
Homogenous pancreas with normal echostructure.
Homogenous spleen with normal echostructure and upper limit for the
age (longitudinal ax = 85mm)
Normal echostructure and size of right and left without signs of kidney
stones or pielocaliceal dilatations
Half-full bladder with transsonic content
No intraabdominal collections or fluid. Moderate aerocolia
 1. Icter hemolitic 2. Hipo-albuminemie

Bilirubina 3. Icter pre-

microsomal
neconjugata
↑
Microsom 4. Icter
microsomal

5. Icter post-
microsomal
Bilirubina
conjugata
↑ 6. Icter
colestatic
 ANEMIE HEMOLITICĂ

Cauze eritrocitare Cauze extra-eritrocitare

Mb-patii Hb-patii Enzimopatii Non-imunol Agres. imunol.

μ-sferocite talasemie G-6-PD infecții transfuzii

eliptocite siclemie PK medicamente AHAI

frotiu sg EF-Hb enzime H teste specifice gr.ABO, Rh

rez. glob. Test Coombs
Lab investigations
Hemoglobin electrophoresis
Hb A =97.1%(85.1-98.5%)
Hb A2= 2.2%(1.9-3.5%)
Hb F=0.7%(<1.5%)

indirect Coombs test= negative

direct Coombs test= negative

G6-PDH= 22.5U/gHb (7-20.5)

Pyruvatkinase =6.1U/gHb(2.1-6.9)

Genetic analysis:
Spectrin/Band ratio 3=0.63(VN>1)
Ankirin/Band ratio 3=0,16(0.2±0.04)
Final diagnosis

• HEREDITARY SPHEROCYTOSIS

• HISTORY OF CMV INFECTION

Treatment
• During hospitalization:
Blood transfusion –
RBC mass (10
ml/kgbw) =100 ml)
isogroup , isoRh.
Lab exam (16.10.2015-after blood transfusion)

Complete blood count: Peripheral blood smear

RBC =3.28mil non segmented Ne= 0%
Hemoglobin =8.5 g/dl segmented Ne = 41%
Hematocrit =27.6% Li =46%
VEM=80.9 fl Mo=9%1
Hem=25.9 pg Eo =4%
CHEM=30.9g/dl Ba =0%
Leucocytes= 6500/ul
Lymfocyte=46.6%
Neutrophiles =38.5%
Eozinophiles=4.0%
Monocytes=9.4% Blood iron 68 mg/dl
Bazophiles=1.5% Feritin 265mg/dl
At home treatment
• Diet according to age.
• Folic Acid 2x5mg/day
Evolution
Control examination 22.03.2017
• Physical exam:
weight=13kg(-6,60%)
height = 94 cm(+0.39DS)
IMC=14,71 kg(p 25-50)
• good general condition, nonfebrile, good appetite.
Pale skin and mucous membranes with mild jaundice
• poorly represented adipose tissue .
• normal breath sounds
• rhythmic heart sounds , HR= 120 beats/min, systolic murmur (grade II)
left parasternal line
• flat abdomen which moves with the breathing without pain on
palpation
• liver placed 2 cm below the ribcage, normal consistency, without
palpatoric pain
• spleen placed 3 cm below the ribcage, normal in consistency, without
palpatoric pain
Lab investigations

Complete blood count: Peripheral blood smear

RBC =2.94mil Non segmented Ne= 2%
Hemoglobin =7.3 g/dl Segmented Ne = 27%
Hematocrit =24.7% Li =61%
VEM=83.7 fl Mo=9%
Hem=23.5 pg Eo =1%
CHEM=28.0g/dl Ba =0%
Leucocytes= 8 000/ul
Lymfocytes=59.5% Blood film:
Neutrophiles=31.5% RBC series: anisocytosis +
Eozinophiles=1.3% micro-normo-macrocytes, hypochromia
Monocytes=7.3% polychromatophilia.
Reticulocytes=58%
Thrombocytes=185 ml/ul Feritin 15.9mg/dl
Serum iron 68 mg/dl
Total bilirubin =1.93 mg/dl
Direct bilirubin =0.33 mg/dl
Indirect bilirubin =1.60 mg/dl
AST=88 U/l
ALT=27 U/l AB anti CMV Ig G = reactive
Gama GT=3 U/l
LDH =2978 U/l
CPK =93 U/l
Urea= 22 mg/dl
Creatinin =0.41mg/dl
PCR =0.4 mg/dl

URINE exam: normal.

Abdominal echography

Homogenous liver with normal ecogenity and size. Normal right lobe
diameter. The right kidney diameter on the long axis is 90mm.
VP has hepatopetic bloodflow, MBT without any dilatations.
Transonic gallbladder, without signs of lithiasis.
Pancreas with normal echostructure.
Homogenous spleen with normal echostructure, with increased size,
bipolar axis =92mm. The splenic lower pole extends beyond the left renal
lower pole.
The right kidney size is 72mm on the long axis, with parenchyma of 16mm
and normal echostructure. No signs of kidney stones and pielocaliceal
dilatations were observed.
The left kidney size is 73mm on the long axis, with parenchyma of 13mm,
and normal echostructure. No signs of kidney stones and pielocaliceal
dilatations were observed.
No intraabdominal collections or liquid were observed.
Conclusion: Splenomegaly (slightly larger than the previous examination)
Treatment during hospitalization

• Folic acid 2x5mg/day

• No blood transfusion
Hereditary Spherocytosis
• the most common cause of hemolitic anemias
• red blood cells with small and rounded shape with
shorted life spam caused by the accentuated spleen
hemolysis
• Incidence :1/2000-1/5000
• AD transmission
• 25% of the cases are with novo mutation.
• pathology : anomalies of skeletal proteins ( spectrin) or
of other proteins with a role in attaching the spectrin to
the membrane (Banda3, Ankirin, Protein 4.2) →
deformation of erythorocytes.
• →intraspleenic hemolysis.
Clinical
• Onset – most frequently between 4-12 years or in
adulthood.
• In newborns: prolonged jaundice and anemia
• Asymptomatic

• Symptomes: paleness , jaundice, tiredness.

• Complications: biliary lithiasis, episodes of aplastic
anemia.
• (Parvovirus B19)
Diagnosis
• moderate anemia, normocytosis, hyperchromia

• Blood smear 20-50% are microspherocytes, but there are

macrocytes as well.

• Reticulocytes are elevated

• Indirect Bilirubin elevated

• Serum iron is normal or elevated

• Feritin is elevated.

• Differential diagnostics: other causes or hemolytic anemia

Treatment
• general measures:
- corresponding diet for the age, high in proteins
- Monitoring of the:
- growth
- effort tolerance
- sleen dimension
(unrelated to evolution of the disease)
 • Folic acid 0.5-1mg/kg/day
• Iron chelation therapy
• Blood transfusions
• Splenectomy
Indications: - severe cases
- moderate cases that present with aplastic crisis
(frequently) /cardiomegaly.

vaccination before and after the intervention: pneumococcal

vaccine, meningococcal vaccine ,and vaccination against H.
influenzae.
Thank you