2. HISTORY
• A 6 month-old male infant who was brought to the
emergency unit by his mother on account of fever,
rash and reduced platelet count of a day duration.
• He was apparently well until a day prior to
presentation when his mother noticed some rash on
the inner aspect of the thigh, which occured after the
mother used a walker.
3. HISTORY
• The rash was said to look like bruises. The rash
increased on the thighs and involved other places
such as the face and lids. The mother further
described the rash as broken blood vessels.
• He was taken to a private hospital where he was
examined.
4. HISTORY
• He was conscious and active, temperature was
37.2°C, pulse rate was 138bpm, respiratory rate was
47cpm,and SPO2 was 98% in room air.
• On examination of the skin, the doctor found
numerous petechiae rash on the limbs, head and
trunk.
5. HISTORY
• Other examination findings were essentially normal.
He had some investigations done and got referred to
this facility.
6. HISTORY
• He was delivered at term via emergency caesarean
section to a primiparous mother on account of severe
preeclampsia.
• There was no history of developmental delay.
7. HISTORY
• The child had a history of allergy when a milk-based
formula was added to his meals at about 3 months of
life; the rash then was described as wheals.
• No history of injury, no bleeding from any of the
craniofacial orifice, and no haematuria or melaena
stools.
8. HISTORY
• His immunization is up to date and has been on
paracetamol for teething until 3days prior to
presentation.
• The child lives with his parents and they have two
pets dogs, he did not attend creche, neither did he
have contact with any sick individual.
9. HISTORY
• The mother’s cousin had splenic enlargement of
unknown origin; no family history of blood disease.
10. HISTORY
• His blood group was A+, serum electrolytes, urea,
creatinine and liver function tests were essentially
normal. Intravenous anti-RhD immune globulin,
50µg/kg of body weight was administered.
• Blood culture yielded no growth. He was discharged
home.
11. HISTORY
• Second day after discharge, platelet count-
120,000/mm³.
• Sixth day after discharge:
– platelet count-32,000/mm³.
– PCV-28%.
– Haemoglobin-9.6g/dl.
– Reticulocyte count-16.6%.
12. HISTORY
• Tenth day after discharge, platelet-1000/mm³.
• The child was readmitted to this facility. At
readmission, the respiratory and pulse rates were
28cpm and 139bpm respectively, weight was 11.3kg
and other vitals were essentially normal.
• There were isolated petechiae on the tongue and fine
petechiae on the face and thighs.
13. HISTORY
• IVIG was given and the child was discharged the next
day. During the next 9 days, testing for ANA was
positive at a 1:40 dilution and negative at 1:80 and
1:60 dilutions (normal, negative at 1:40 and 1:60
dilutions) with a speckled pattern, and testing for anti
granulocyte antibodies was negative.
14. HISTORY
• When the patient was 8 months old, he was diagnosed
of milk allergy as he had developed wheals and
diarrhea.
• His radio allergosorbent testing was positive and soy
based formula was commenced.
• Diarrhea resolved, but he still vomited frequently.
15. HISTORY
• Two months after the first admission, when he was
8.5 months old, he developed a fever as high as
38.9°C and it was unresponsive to ceftriaxone given
as outpatient.
16. HISTORY
• This was followed by worsening loose stools, non-
bilious vomiting, and lethargy for several days.
Temperature later increased to 40°C. Blood cultures
yielded no growth.
• Again, this child was admitted to this facility.
17. EXAMINATION
• At admission, the temperature was 40°C
• The pulse Rate-164bpm
• The BP- 101/56mmHg.
• The Respiratory rate -34cpm.
• The SPO₂ was 97% in room air.
• The weight was 11.7kg.
18. INVESTIGATIONS
• Nasopharyngeal tests for influenza viruses A and B ,
stool tests for ova of parasite and enteric pathogens
such as; clostridium difficile, rotavirus, enterovirus,
adenovirus were negative
• Stool and urine test for reducing substances was
negative.
19. INVESTIGATIONS
• Platelet count-18,000/mm³(150,000-450,000)
• The packed cell volume-31.5%(33.0-39.0)
• The reticulocyte count-5.3%(0.5-1.5)
• The white blood cell count -14,800/mm³(6000–
17,500)
Absolute Neutrophil – 890/mm³(1000-8600)
Absolute Eosinophil - 890/mm³(200-500).
20. INVESTIGATIONS
• The Erythrocyte sedimentaion rate was 43mm/hr (0-
11)
• Peripheral blood film
– Anisocytosis
– Microcytosis
– Hypochromasia
– polychromasia
23. FOLLOW UP
• He was given ibuprofen, intravenous fluids, and
ceftriaxone.
• He was also commenced on parenteral nutrition and
given for 3 days
• Fever and diarrhea subsequently resolved.
24. FOLLOW UP
• The child was diagnosed on the sixth days and a low
allergenic formula was introduced to the child.
• Cefixime was given for two weeks and
acetaminophen was to be given as needed.
• More diagnostic tests were performed.
31. IDIOPATHIC
THROMBOCYTOPAENIC
PURPURA
FOR AGAINST INVESTIGATIONS
• Clinical course • Age • Bleeding time
• Petechiae • No preceding
history of viral
illness
• Peripheral blood
film
• Isolated
thrombocytopaeni
a
• Full blood count
• IVIG
administration
• No history of
bleeding
diasthesis
32. AUTOIMMUNE HAEMOLYTIC
ANAEMIA
FOR AGAINST INVESTIGATIONS
• Positive direct
coomb test
• Age • Direct coomb test
• Reticulocytosis • No jaundice • FBC
• Fever • No pallor
• Ceftriaxone • Splenomegally
• No profound
anaemia
• Low platelet
count
33. COMMON VARIABLE
IMMUNODEFICIENCY
(EVANS SYNDROME)
FOR AGAINST INVESTIGATIONS
• Neutropaenia • Absence of
frequent bacterial
infections
• Direct coomb test
• Thrombocytopae
nia
• Elevated
immunoglobulin
levels.
• FBC
• Petechiae • Chronic course
• Immunization • Jaundice
• Gender
34. CANALE-SMITH SYNDROME
FOR AGAINST INVESTIGATIONS
• Age • No
lymphadenopathy
• Flow cytometry
• Thrombocytopae
nia
• No splenomegaly • Lymph node
biopsy
• Diarrhea • No hepatomegaly • Genetic testing
• Vomitting • No seizure
• Elevated IgA
• Feeding
intolerance
• Elevated CD3⁺
35. CHRONIC DIARRHEA IN
INFANCY
FOR AGAINST INVESTIGATIONS
• Recurrent
intermittent
diarrhea
• Mucosal biopsy
• Feeding
intolerance
• Symptoms
improved
with diet
restrictions
36. SYSTEMIC LUPUS
ERYTHREMATOSUS
FOR AGAINST INVESTIGATIONS
• Fever • Age • Anti double
stranded DNA
• Lethargy • No malar rash,
discoid rash, oral
or nasal ulcer
• Serum total
haemolytic
complement
• Neutropaenia • Gender • Antiphospholipid
antibodies
• Thrombocytopae
nia
• No seizure • Antinuclear
Antibody
• Elevated ESR
38. LYMPHOPROLIFERATIVE
DISORDERS(LEUKAEMIA)
FOR AGAINST INVESTIGATIONS
• Gender • Age • Bone marrow
aspiration biopsy
• Fever • No pallor • Peripheral blood
film
• petechiae • No joint swelling • immunophenotyp
ing
• Thrombocytopae
nia
• No organ
enlargement
• Lumbar puncture
• Neutropaenia • No seizure • Chromosomal
analysis
ITP is an autoimmune disorder characterised by platelet destruction by auto antibodies of class IgG.most common cause of thrombocytopaenia in an otherwise well child.50 to 65%% follows viral infection.
Peak age is 1 to 4 years
Short clinical course,occurs suddenly onset of generalised petechiae and purpura.
Without a history of bleeding, bruising or febrile illness
Isolated thrombocytopaenia on lab testing
Giant platelet in the PBF which means possibility of immune mediated shortening of platelet survival with a compensatory but inadequate acceleration of platelet production.
ITP is an immune mediated thrombocytopaenia.more frequently diagnosed in patients between the age of 1 and 6 years.
Anti D was given to the child an antibody targeting the rhesus antigen on circulating red cells that promote improvement in platelet numbers in most children affected by ITP. treatment with AntiD invariably can lead to haemolysis with a drop in haemoglobin level of approx 1g/dl and profound drop in patient with preexisting red cell antibodies.there was excellent improvement in platelet count after anti D which suggest that the thrombocytopaenia is immune mediated.
BT-prolonged
Bone marrow biopsy-megakaryocyte
FBC-Severe thrombocytopaenia(plt <20*10’9)
IVIG treatment of choice in ITP it induce rapid rise in plt count(usualy >20x 10’9/l in about 955of patient.
Oyher drugs;corticosteroid,Anti D therapy
AIHA,abnormal antibodies are directed are directed against RBC membranes antigens,but the pathogenesis of antibody induction is uncertain.
Possible immune mediated haemolysis (coomb test)causing pancytopaenia.
More than 50% of RBC may be reticulocytes.platelet count is usually normal.
Drugs causes haemolysis via the hapten mechanism bind tightly to the rbc membrane, Ab to the drugs binds to the drug molecules on th surface of the RBC.
The acute transient type is common in children between 2 to 12 yrs.The chronic type is common in children greater than 12 yrs.
Spleen is usually enlarged because is the primary site of destruction of IgG coated RBC.
FBC-Anaemia is profound with Hb<6g/dl,spherocytes and polychromasia reflecting reticulocyte responses.in some cases,low retic count may be found espeaciallty in early episodes.
DCT-antibodies belonging to IgG class active at 35 to 40 degree celcius
Evans syndrome is a spectrum of common variable immunodeficiency(CVID).it is characterised by reduced serum immunoglobulin levels. multilineage autoimmune cytopaenia is seen in a subset of patient.
Affects boys more commonly than girls 1.4:1
Patients with EVANS syndrome typically have involvement of only two lineages,but this patient had trilineage cytopaenias.
Immunoglobulin levels and function are ususally depressed in patients with CVID even in the presence of autoimmune cytopenias.
Serum levels of immunoglobulin are decreased in evans syndrome in most patients.
Case reports suggest that immunization may trigger evans syndrome.
The aetiology of evans syndrome is unknown.
Diagnosis of exclusion.
Chronic course- period of remission and exacerbation.
FBC-anaemia,thrombocytopaenia,neutropaenia
ALPS AKA Canale-smith syndrome is a disorder of abnormal lymphocyte apoptosis leading to polyclonal population of T cells(double negative cels) which express CD3 and alpha/beta antigen receptors but do not have cd4 or cd8 coreceptors.
Genetic-to detect any mutation in the fas receptor
Diarrhea,vomiting and feed intolerance is ass with ALPS ass enterocolitis.
CNS manifestation is common in them too
Most patients present in the first year of life.most are symptomatic by 5 years.
The most common mutation observed in ALPS ocurs in the gene for the FAS receptor on activated t cells.when activated by contact with fas ligand,which is expressed on activated t cells and bcells,the fas associated death domain is activated thereby triggering the cascade of the extrinsic pathway.
Biopsy-shows paracortical Tzone expansion by these double negative T cells.
Flow cytometry-shows double negative t cells that is cd3 cells aving cd4-cd8 phenotype
Diag- cd3 and double negative t cells >/1.5%of total lymphocyteor 2.5% of cd3 lymph
Chronic diarrhea is defined as stool volume greater than 10g/kg of body weight per day in infants or 2o0g/day for older children,for more than 14 days.
Tissue eosinphilia is the characteristics histologyfeature in eosinophilic gastrointestinal disorder whichbisba disordervcaused by an allergic reaction to dietary antigens in amixed IgE mediated and non igE mediated mechanism.
For food protein induced enterocolitis;presence of vilous injuru on biopsy specimen.
No dairy,or wheat.Elemental diet is a formula based on amino acids but no intact protein.
Is a chronic autoimmune dxs characterised by mulisystem inflammation and the presence of circulating antibodies directed against self antigens.
Prefentially affects women of reprodective age,hormone factors.
4 out of 11 criteria establish diagnoses of SLE(ACRRC)
Inflammatory markers particularly ESR are often elevated in acute disease
Antiphospholipid antibodies found in 66% of children with SLE.9presnce of anticardiolipin antibodies,prolonged PTTK and dilute russell viper venom time)
90% are common in females.5:1.
No characteristics discoid rash
Autoantibodies directed against self antigens
Fever,fatigue,aints in childrenrthritis are most common complant.
They have immune mediated cytopaenias.
Diagnosis is involves a complementary clinical and laboratory assessment.
A positive ANA test is present in 95-99% of individual with SLE.it has poor specifict in SLE as up to 20% of healthy individuald can have SlE.
Serum total haemolytic complement(c3,c4,CH50) are decreased.
Is a chronic autoimmune dxs characterised by mulisystem inflammation and the presence of circulating antibodies directed against self antigens.
Prefentially affects women of reprodective age,hormone factors.
4 out of 11 criteria establish diagnoses of SLE(ACRRC)
Inflammatory markers particularly ESR are often elevated in acute disease
Antiphospholipid antibodies found in 66% of children with SLE.9presnce of anticardiolipin antibodies,prolonged PTTK and dilute russell viper venom time)
90% are common in females.5:1.
No characteristics discoid rash
Autoantibodies directed against self antigens
Fever,fatigue,aints in childrenrthritis are most common complant.
They have immune mediated cytopaenias.
Diagnosis is involves a complementary clinical and laboratory assessment.
A positive ANA test is present in 95-99% of individual with SLE.it has poor specifict in SLE as up to 20% of healthy individuald can have SlE.
Serum total haemolytic complement(c3,c4,CH50) are decreased.
Leukaemia occurs due to bone marrow infiltration by malignanat cells leading to secondary bone marrow failure.
Peak age of ALL is 2-3yrs
Occurs more in boys than girls.
Fever in ALL is commonly low grade and intermittent
Thrombocytopaenia is seen in 75% of patients.
Bone marrow biopsy-.25% blast in ALL,>
pBF-Anaemia,thrombocytopaenia,leukopaenia
Lumbar puncture for staging
Phenotyping to determine the subtype,FAB L3
Common in down syndrome,bloom syndrome,
M3 is ass with DIC
Leukaemia occurs due to bone marrow infiltration by malignanat cells leading to secondary bone marrow failure.
Peak age of ALL is 2-3yrs
Occurs more in boys than girls.
Fever in ALL is commonly low grade and intermittent
Thrombocytopaenia is seen in 75% of patients.
Bone marrow biopsy-.25% blast in ALL,>
pBF-Anaemia,thrombocytopaenia,leukopaenia
Lumbar puncture for staging
Phenotyping to determine the subtype,FAB L3
Common in down syndrome,bloom syndrome,
