This document presents the case of a 19-month-old boy from Yemen who presented with generalized body swelling that had begun 3 months prior. On examination, he appeared ill with generalized edema, hepatomegaly, ascites, and jaundice. Investigations revealed anemia, elevated liver enzymes, and cardiomegaly on chest x-ray. Differential diagnoses considered included cardiac causes like restrictive cardiomyopathy or constrictive pericarditis, and hepatic causes. He was started on treatment for heart failure while awaiting heart transplantation for definitive management.

1. By : Ahmed Bahamid
Pediatric resident @ Alsabeen
hospital
December, 9th,2012

2. - 19 months-old Yemeni boy from Dhamar
- C/O;
- Generalized body swelling 3
months

3. - History of present illness started
- 3 months earlier
- Gradual onset swelling
- 1st in the eyelids (puffy eyes) & LL
- Progressive in course
- Seen in private clinics several times but no
settled dx where made
- Ŕ by diuretics with temporary relief of
edema.

4. - The swelling eventually involve the entire
body
- Face + abdomen + genetalia + LL
- Last 2 weeks
- Yellowish discoloration of the sclera
- Associated with low-grade fever

5.  Positive hx & Negative hx
- General; decreased activity, poor feeding,
& Wt gain
- Skin; yellowish discoloration, itching of
the scalp + hands + umbilicus,
- Cardiac; sweating and tiring with feeding,
dyspnea started @ 3 months of age
- Respiratory; prolonged cough started @ 3
months of age and subsided with the start
of recent complain

6. - GIT; anorexia, nausea, vomiting, No
diarrhea with normal daily bowel motion
and normal color.
- Genito-urinary; No difficulty with
urination, No hematuria, No frothy urine,
ONLY decreased urine output
- CNS; only irritability, NO abnormal
movement, NO fits, or seizures, or
weakness

7. - Hematological; only pallor, NO hx of skin
rash, bruises or bleeding
- Musculoskeletal; No joint swelling or pain

8. - No hx of similar attack
- Hx of fever with skin rash twice @ age of
3 months & 6 months
- Hx of prolonged cough since 3 months of
age treated several times @ private clinics
as chest infections but no admissions
- No hx of operations, trauma, allergy or
ch. Medical diseases

9. - Product of FT, NSVD @ hospital.
- Pregnancy with antenatal care with no
major problems
- No perinatal complications
- Average birth weight
- No cyanosis or jaundice, NO neonatal
resuscitation or admissions
-

10. - Exclusive breast feeding in 1st 3 months
- Bottle feeding started @ 4 months of age
with adequate amount &
concentration(fabimilk formula 1 & 2)
besides breast feeding ( till 9 months)
- Formula changed to Nido milk & 10 months
of age
- Weaning started @ 8 months of age with
rice, cheese, & biscuits.

11. - Immunization hx up-to-date except the
last measles dose
- Developmental hx appropriate as his
previous siblings (but motor development
decreased markedly with the recent
disease)

12. 55y 33y
18y 17y 2y 14y 12y 11y 8y 19 m
Father (DM & HTN) & smoker
Mother ( 1 abortion, No still births
3rd girl sibling died @ 2y of age from ch. GE + vomiting with
rickets
Other siblings healthy, no similar condition or renal disease in
the family

13. • Conscious, irritable, looked ill, mild RD
• Afebrile, pallor & jaundiced
• Generalized edema (face + abdomen + LL + genitalia)
• Vital signs
- Heart rate (116 bpm)
- RR (48 cpm)
- BP (80/40 mmHg)
- Temp. (36.3C, axillary)

14. - Growth
• Weight 11 kg on admission (50th percentile)
now 11.6 kg
• Length 77cm (10th percentile)
• HC 48.5 cm (75th percentile)

19. - HEENT
• Head; Closed Ant. Fontanelle
• Eyes; yellowish sclera + pale conjunctiva,
puffy eyes
• ENT; NAD
- Neck; diffuse swelling of soft tissues but no
congested neck veins., no significant LN
enlargement

20. Chest: normal shape, good air entry bilaterally,
normal vesicular breathing, no added sounds.
CVS: not visible apex beat?? & barely palpable,
S1 + S2+ distant heart sounds
- pulses: rapid weak pulses, equal
- Capillary refill 4 seconds with cold
extremities

21. - Abdomen:
1- inspection; distension, no scars or dilated
veins, everted slit shape umbilicus
2- palpation; tense, no tenderness, wall edema,
hepatomegaly (liver 12 cm BCM, span 15 cm)
firm-to-hard in consistency, not tender,
round border.
3- percussion: +ve shifting dullness &
transmitted thrill.
4- auscultation: +ve bowel sounds

22. - Genetalia: scrotal swelling with +ve
transillumination
- Back: pitting sacral edema
- CNS; NAD
- LL; petting edema, level just below the knee
- LN; no significant LN enlargement
- MSS; no joint swelling or tenderness

23. - 19 months-old-boy
- Tired and sweating on feeding started @ 3
months of age
- Recurrent chest infection started @ 3 months
of age
- Swelling started periorbital & in LL, then
became generalized (last 3 months)
- Jaundice & low-grade fever (last 2 weeks)
- O/E; looks ill, mild RD, generalized edema + huge
hepatomegaly + ascites + pallor + mild jaundice

24. 1- Renal
- Nephrotic syndrome
- Acute GN
2- Hepatic
- ch. Active hepatitis (viral infection)
- metabolic ( Gaucher disease, Nieman-pick
disease, Wilson disease, GSD type IV)
- chronic liver failure
- malignancy (primary/secondary)

25. 3- cardiac
- CCF
- constrictive pericarditis
- restrictive cardiomyopathy
- tricuspid valve disease
4- others
- veno-occlusive disease
- Budd-Chiari syndrome
- superior vena cava thrombosis
- cystic fibrosis

26. - CBC;
- Hb% 7.2 g/dl
- PCV 22
- WBC 12.8
- Neut 50 %
- Lymph 42 %
- Mono 4 %
- Eosin 4 %
- Platelets 134,000

27. - CRP: +ve (2+)
- RFT: (N) urea 16 mg/dl, creatinine 0.6 mg/dl
- LFT: T.protein 5.1 g/dl, albumin 2.7 g/dl, TSB
6.7 mg/dl, SGOT 72 U/L
- RBS: 78mg/dl
- Electrolytes: Na 112 mmol/l, K 5.2 mmol/l, Ca
6.7

28. - Urine analysis: Normal
- Chest X-ray: globular cardiac shadow
enlargement
-

29. 1- cardiac
- CCF
- restrictive cardiomyopathy
- constrictive pericarditis
2- hepatic
- ch. Active hepatitis (viral infection)
- metabolic ( Gaucher disease, Nieman-pick
disease, Wilson disease, GSD type IV)
- chronic liver failure
- malignancy (primary/secondary)

30. 3- Renal
- Nephrotic syndrome
- Acute GN
4- others
- veno-occlusive disease
- Budd-Chiari syndrome
- superior vena cava thrombosis
- cystic fibrosis

31. - Marked hepatomegaly, smooth surface, no focal
lesion
- Signs of dilated IVC & hepatic veins
- Bilateral pleural effusion
- Partial collapse of Rt. Lower lobe
- Marked pericardial effusion
- Marked ascites

32. - Markedly enlarged liver
- Retrograde filling of dilated IVC & hepatic
veins, with no signs of thrombotic changes or
obstructing agent, reflecting passive hepatic
congestion related to cardiac cause
- Large amount of ascites
- Prominent dilatation of both atrium with
relatively small ventricles & mild to moderate
Rt. Sided pleural effusion

33. Cardiac
1- restrictive cardiomyopathy?
2- constrictive pericarditis?

34. Picture of restrictive cardiomyopathy with
congestive heart failure

35. - Ampicillin , IV 500mg QID
- Captopril, oral, 6.25 mg BID
- Lasix, IV, 10 mg BID
- Vitamin K, IV, 5mg single dose
- Definitive treatment: heart transplantation

36.  Definition & background
 Pathophysiology
 Causes
 Clinical approach
 investigations
 Management of edema

37.  Accumulation of excess interstitial fluid and
could be localized or generalized.

 Edema results from either excess salt &
water retention or from increased transfer
of fluid across the capillary membranes.

 Understanding of the Pathophysiology of
edema is important in the clinical approach
and management of this condition in children.

38.  Distribution:
1- Anasarca; gross, generalized edema with
profound subcutaneous tissue swelling.
2- Localized edema; does not reflect a sustained
impairment in the ability to maintain normal Na
balance.
3- Special forms of fluid collections in the
different body cavities
 Hydrothorax (in pleural cavity)
 Hydropericardium (in pericardial cavity)
 Ascites (in peritoneal cavity)

39.  Generalized edema can arise via two
different processes;
 Reduced intravascular volume leading to Na
& water retention → under-filling edema

 Na & water retention secondary to expanded
plasma & intracellular tissue fluid volume
accompanied by lack of natriuresis → over-
filling edema.

40.  Mechanism of under-filling edema
 Initiated with ↑↑ glomerular permeability to
albumin → albuminuria → hypoalbuminemia →
↓↓ plasma oncotic pressure → movement of
water from intravascular space to the
interstitium.
 The contracted intravascular volume→↑↑
RAA activity +↑↑ SNS activity + ADH release
 These factors→ water & Na retention→
further ↓↓ plasma oncotic pressure→ setting
up a vicious circle

41.  Mechanism of over-filling edema
 Resulting from expanded extracellular
volume that results from primary renal
Na retention, possibly secondary to
the renal damage.
 In over-filling edema the RAA system
& SNS & ADH secretion are
depressed.

42.  Causes of edema according to physiological
changes:
 Increased hydrostatic pressure
 Decreased plasma oncotic pressure
(hypoproteinemic states)
 Increased capillary leakage
 Impaired lymphatic flow
 Impaired venous flow

43. 1- Increased hydrostatic pressure
 Acute nephritis syndrome
 Acute tubular necrosis
 Cardiac failure-low output (CCF)
 Cardiac failure-high output
(hyperthyroidism, anemia, beriberi)
 Arteriovenous fistula
 Acute and chronic renal failure
 Constrictive Pericarditis & restrictive
cardiomyopathy

44. 2- Decreased plasma oncotic
pressure (hypoproteinemic states)
 Nephrotic syndrome
 Chronic liver failure, autoimmune
hepatitis, fulminant hepatic failure
 Protein losing enteropathy
 Protein caloric malnutrition
 Severe burns

45. 3- Increased capillary leakage
 Insect bite, trauma, allergy,
sepsis, & angio-edema
 Vasculitis (anaphylactoid purpura,
SLE, dermatomyositis,
polyarteritis nodosa, scleroderma,
& Kawasaki disease)

46. 4- Impaired lymphatic flow
 Lymphatic obstruction (tumor), congenital
lymphedema.
 Milroy disease in newborn
 Wuchereria bancrofti infection
 Post-surgical & post irradiation

47. 5- Impaired venous flow
 Hepatic venous outflow obstruction,
superior/inferior vena cava obstruction
6- Others
 Myxedema, Hydrops fetalis, drugs like
NSAIDs, steroids, vasodilators etc…

48.  Confirm edema
 Assess distribution of edema:
generalized VS localized edema
 Detailed history and physical
examination to assess severity,
associated complications, and
underlying cause of edema.

49.  Assess distribution of edema
generalized VS localized edema
 In generalized edema look for
pretibial, sacral, scrotal, vulval
edema other than periorbital
edema and ascites.

50.  Localized edema
 Hx. Of trauma, insect bite, or
infection
 Peripheral lymphedema in female
newborn  to exclude Turner’s
syndrome
 Acute edema of the face and neck 
to exclude superior vena cava
obstruction syndrome.

51. B- Generalized edema
1- Renal disease (most common cause in children)
 Rapid onset edema, puffiness around the
eyes, gross hematuria, oliguria, hypertension,
cardiomegaly, pulmonary edema to suggest
acute glomerulonephritis.
 Frothy urine suggests nephrotic syndrome.
 Absence of circulatory congestion
differentiates nephrotic syndrome from
nephritic syndrome.

52.  Signs and symptoms of chronic insufficiency
such as anemia, growth retardation, and uremic
symptoms such as nausea and vomiting.
 Exclude secondary causes such as post-
infectious glomerulonephritis (history of throat
or skin infection in recent past), SLE, Henoch
Schonlein purpura (skin rash & joint pain).
 Look for symptoms of hypertensive
encephalopathy (headache, irritability,
confusion, altered sleep pattern, & convulsion).

53.  Ask for hx of fever, anorexia, vomiting,
abdominal pain, progressive jaundice, fetor
hepaticus, bleeding manifestations, clay
color stool, black tarry stool, hematemesis,
pruritis & abdominal distension.
 Stigmata of chronic liver disease such as
palmar erythema, clubbing & spider naviae.
 HSM with gross ascites in the absence of
jaundice to exclude portal vein thrombosis.
 Previous operation scar such as Kasai porto-
enterostomy.

54.  Symptoms of CCF such as decreased effort
tolerance, orthopnea, paroxysmal nocturnal dyspnea
in older children and poor weight gain, feeding
difficulties, excessive sweating, bluish episodes and
respiratory distress in infants.
 Signs of cardiomegaly, gallop rhythm, precordial
pulge, pallor, cool extremities, elevated JVP, weak
pulse, pulsus paradoxus, murmur, displaced apex
beat, tender hepatomegaly, & lung crepitations.
 Assess for underlying cause such as structural heart
disease, cardiomyopathy & myocarditis.
 Edema in cardiac disease often denotes a late sign in
small children.

55.  Hx of chronic diarrhea, steatorrhea, foul
stools, FTT, repeated infections &
redcurrant abdominal pain.
 Detailed dietary history for possible cow
milk allergy and gluten hypersensitivity
 Assess for complications of anemia,
malnutrition and vitamin deficiency
 This condition should be considered in every
case of unexplained edema (even without
diarrhea) especially when it is associated
with hypoproteinemia.

56.  Hx of anorexia, lethargy, diarrhea, vomiting,
FTT, susceptibility to infections, night
blindness, inadequate or inappropriate
dietary hx especially prolonged lack of
protein.
 In examination; growth parameters, pallor,
apathy, irritability, skin changes, hair
changes, & signs & symptoms of
micronutrient deficiency.

57.  Edema usually mild, commonly periorbital.
 Hx of allergen exposure such as medications,
animal dander, food preservatives and
coloring.
 Associated rashes such as urticarial.
 Assess for Steven-Johnson reaction.

58. Generalized
edema
Circulatory
overload?
No Yes
Proteinuria? Proteinuria, hematuria?
Yes No Yes No
Acute
GN
Cardiac
disease
Nephrotic
syndrome
Stigmata of ch.
Liver dis.?
Yes No
Chronic liver
dis.
Ch.
diarrhea?
Protein losing
enteropathy

59. A- Urine dipstick & microscopy
 Proteinuria, hematuria, & casts are
indicative of renal disease
B- RFT
 Raised serum urea & creatinine are
indicative of renal disease

60. C- Full blood count
 Normochromic Normocytic anemia
suggest chronic disease
 Hypochromic microcytic anemia
suggest IDA from occult GIT bleeding
e.g. cow’s milk allergy
 Megaloblastic anemia suggests B12 and
folate deficiency from small bowel
disease

61. D- LFT
 Hypoalbuminemia in the absence of
circulatory overload suggests
hypoproteinemic states
 Hyperbilirubinemia and elevated liver
enzymes suggests liver disease

62. E- Chest X-ray and ECG
 Cardiomegaly with prominent perihilar
vascular markings/upper lobe diversion
and left ventricular hypertrophy
confirms intravascular fluid overload

63.  N.B if these basic investigations do not
reveal the cause of edema, further
investigations may have to be done:
 - Echocardiography
 - Serum-ascites albumin gradient
(SAAG)
 - CT scan or MRI abdomen

64. SAAG > 1.1 gm/dl SAAG < 1.1gm/dl
Liver cirrhosis
Veno-oclusive dis.
Fulminant hepatic failure
Cardiac ascites
Mixed ascites
Liver metastasis
Nephrotic syndrome
TB
Nutritional
Collagen vascular dis.
High SAAG, normal protein Budd chiari synd. & constrictive pericarditis
High SAAG, low protein liver cirrhosis
Low SAAG, low protein nephrotic syndrome, TB, nutritional
Low SAAG, normal protein chylus ascites, pancreatic ascites

65. * General measures
1- Dietary management
 Na restriction to 2gm/m2/day
 Fluid restriction to 2/3 of maintenance
depending on the severity of edema
2- Diuretics therapy
3- Bed rest
4- Specific therapy according to the cause

66.  Edema more in the morning and subsiding by
evening is suggestive of renal edema
 Ascites to start with, followed by edema may
suggest a possibility of hepatic failure
 Nutritional history combined with
anthropometry, vitamin & mineral deficiency
signs, points to the diagnosis of nutrition
deficiency states like kwashiorkor
 Edema in the dependant part associated with
tachypnea and abnormal findings in the heart
suggests the diagnosis of cardiovascular
diseases.