Pediatrics - Endo, Ortho, Rheumatic + Hematology (Kaplan Chapters 16 -19)

Front 1

Growth disorders can be devided into which two diseases?

Back 1

Hyper- and Hypopituitarism

Front 2

Hypopituitarism can either present as isolated GH deficiency or multiple pituitary deficiencies

Define Acquired Hypopituitarism

Back 2

"Any lesion that damages hypothalamus, pituitary stalk or anterior pituitary e.g. radiation"

--> Most common is Craniopharyngioma

Front 3

Most common form of acquired (not congenital) Hypopituitarism?

What other very specific symptom is typical of this disease?

Back 3

Craniopharyngioma

Visual disturbances (due to compression of Optic Nerve)

Front 4

Neonate emergencies including
1. Hypoglycemia

2. Seizures

3. Hypothyroidism

4. Hypoadrenalism

---> may point to which diagnosis?

Back 4

Congenital Hypopituitarism

Front 5

When does severe growth failure develop in children with Congenital Hypopituitarism?

Can the growth failure be visible at birth?

Back 5

Severe growth failure develops within the first year

It never presents at birth

Front 6

Hypopituitarism, caused by an expanding craniopharyngioma, may present with the which symptomes?

Back 6

Visual Changes

Headache & Vomiting

Papilledema

Decreased School Performance

Cranial Nerve Palsies

Front 7

Screening test for Hypopituitarism is?

Definitive Dx of Hypopituitarism?

Back 7

Screen for GH

---> Low serum IFG1 & IGF-BP3

GH Stimulation Test (able/unable to stimulate production)

Front 8

Best imaging test to look for Hypopituitarism?

Back 8

MRI (superior to CT)

Front 9

DDx of Hypopituitarism?

(5 points)

Back 9

1. Systemic conditions - Weight much less affected than height

2. Constitutional delay

3. Genetic short stature

4. Primary hypothyroidism

5. Emotional deprivation

Front 10

Tx of Hypopituitarism?

Back 10

Replacement of GH

Front 11

Is Hyperpituitarism as a primary condition normal?

Back 11

No, it's rare

Front 12

What is the most common clinical presentation of a patient coming to the hospital for the first time with undiagnosed Type 1 DM?

Back 12

Diabetic Ketoacidosis

Front 13

Upper normal values of serum Insulin-like Growth Factor (IGF1) and IGF-binding protein-3 (IGF-BP3) will exclude which disorder?

Back 13

GH deficiency as a result of Hypopituitarism

Front 14

Precocious Puberty
Screening test, and result if positive?

Definitive test, and result if positive?

Back 14

BT showing significant increase in LH

GnRH stimulation test IV ---> Brisk LH response

Front 15

Next step after positive GnRH stimulation test, proving your suspicion of Precocious Puberty in a child?

Back 15

Do MRI to look for tumors

Front 16

Define Thelarche

Back 16

"Onset of secondary (poastnatal) breast development, usually occuring at the beginning of puberty in girls" -- Wikipeida

Front 17

Hypoparathyroidism, deficiency of PTH, is linked to one particular congenital syndrome.
Which?
What sort of parathyroid pathology does it cause?

Back 17

DiGeorge Syndrome

Aplasia/hypoplasia of the Parathyroids

Front 18

Apart from DiGeorge Syndrome, which other etiologies of Hypoparathyroidism are there?

Back 18

1. Familial (X-linked or AD)

2. Post thyroid surgery

3. Autoimmune - polyglandular disease

4. Idiopathic

Front 19

What is the early clinical presentation of Hypoparathyroidism?

Back 19

Muscle pain
Cramps
Numbness
Tingling
----> Everything is related to Calcium (or lack thereof)

Front 20

What are the later symptomes of Hyperparathyroidism?

Back 20

Laryngeal and carpopedal spasm (tetany)

Seizures (hypocalcemia)

Front 21

BT results in a positive Hypoparathyroidism screening?

Back 21

1. Decreased serum Ca (5-7 mg/dL)

2. Increased serum P (7-12 mg/dL)

3. Low 1,25(OH)2D3

4. Low PTH

Front 22

Hypoparathyroidism Tx?

Back 22

Calcitriol or D2 + daily elemental Ca

Front 23

Which changes can be seen on ECG in Hypoparathyroidism?

Back 23

Prolongation of QT

Front 24

The most common cause of ambiguous genitalia in a newborn is Congenital Adrenal Hyperplasia

What is the most common form of CAH?

Back 24

21 hydroxylase deficiency

Front 25

21 hydroxylase deficiency

Mode of inheritance?

Back 25

Autosomal recessive

Front 26

Case:
A 1 month-old infant is seen with vomiting and severe dehydration. PE reveals ambiguous genitalia; lab tests show hyponatremia

Dx?

Back 26

Congenital Adrenal Hyperplasia

Front 27

In 21 hydroxylase deficiency, the precursor steroids will accumulate.
They can be checked for in blood, and will point to the diagnosis.

Name the precursor steroid

Back 27

17-OH progesterone

Front 28

In 21 hydrogxylase deficiency, decrased cortisol will lead to --> ?

Back 28

Increased ACTH ---> Adrenal Hyperplasia

Front 29

Explain why CAH due to 21HD leads to masculinized external genitalia in females

Back 29

"Because cortisol synthesis is decreased, ACTH levels increase, which stimulates the adrenal cortex, causing accumulation of cortisol precursors (eg, 17-hydroxyprogesterone) and excessive production of the adrenal androgens dehydroepiandrosterone (DHEA) and androstenedione"
-- Merck Manuals

Front 30

Aldosterone deficiency in CAH due to 21HD may lead to which biochemical alterations?

Back 30

Salt wasting, hyponatremia and hyperkalemia

Front 31

Females with CAH due to 21HD may be born with ambiguous genitalia, although their internal organs are normal.
Boys born with the same condition will commonly have which appearance at birth?

Back 31

Trick question!
They appear normal at birth

Front 32

Most common cause of Cushing Syndrome in Pediatrics is?

Back 32

Exogenous/Iatrogenic, caused by prolonged glucocorticoid administration by health professionals.

Front 33

Findings in Cushing Syndrome?

Back 33

1. Moon facies

2. Truncal obesity, thin extremities

3. Impaired growth

4. Striae

Front 34

Best test for Dx of Cushing Syndrome is?

Back 34

Dexamethasone Suppression Test

(A normal result is a decrease in cortisol levels upon administration of low-dose dexamethasone)

Front 35

After diagnosing Cushing Syndrome with a DST, what is the next move?

Back 35

Do CT or MRI to look for causative tumors (i.e. adrenocortical tumor)

Front 36

Case:
An 8 year-old boy is seen in the emergency department with vomiting and abdominal pain of 2 days' duration. His mother states he has been drinking a lot of fluids for the past month, and reports weight loss during that time. PE reveals a low-grade fever, and a moderately dehydrated boy who appears acutely ill. He is somnolent but asks for water. Respirations are rapid and deep. Lab tests reveal a metabolic acidosis and hyperglycemia
Dx?

Back 36

Diabetes Mellitus

Front 37

Etiology of DM type 1?

Back 37

T-cell mediated autoimmune destructio of islet cell cytoplasm, insulin autoantibodies (IAA)

Front 38

Two most important points for treating Diabetic Ketoacidosis?

Back 38

1. Give insulin!

2. IV fluids! --> Lowers glucose

Front 39

Patients with Diabetic Ketoacidosis, if they are treated to quickly are at risk of developing what?

Back 39

Cerebral edema due to too changes in osmolarity

Front 40

Which visible skin lesion seen in children is very indicative of DM type II?

Back 40

Actanthosis nigrans

Front 41

Age specific causes of limp in children
Birth - 3 years?

Back 41

Developmental dysplasia of the hip

Front 42

Age specific causes of limp in children
4 - 12 years?

Back 42

Legg-Calvé-Perthes Disease

Front 43

Age specific causes of limp in children

> 12 years

Back 43

Slipped Capital Femoral Epiphysis

Front 44

Describe the Barlow maneuver

What Dx does it test for?

Back 44

"The maneuver is easily performed by adducting the hip (bringing the thigh towards the midline) while applying light pressure on the knee, directing the force posteriorly. If the hip is dislocatable - that is, if the hip can be popped out of socket with this maneuver - the test is considered positive" -- Wikipedia

Used to diagnose "Developmental dysplasia of the hip".

Front 45

Describe the Ortolani test

What Dx does it test for?

Back 45

"Performed by an examiner first flexing the hips and knees of a supine infant to 90 degrees, then with the examiner's index fingers placing anteriorpressure on the greater trochanters, gently and smoothly abducting the infant's legs using the examiner's thumbs. A positive sign is a distinctive 'clunk' which can be heard and felt as the femoral head relocates anteriorlyinto the acetabulum" -- Wikipedia

Used to diagnose "Developmental dysplasia of the hip".

Front 46

Name the two tests performed in sequence to test for Developmental dysplasia of the hip in neonates.

Back 46

Barlow maneuver and Ortolani test

Front 47

Describe the Galeazzi test

What Dx does it test for?

Back 47

"It is performed by flexing an infant's knees when they are lying down so that the feet touch the surface and the ankles touch the buttocks. If the knees are not level (compared to each other) then the test is positive, indicating a potential congenital hip malformation"

Developmental dysplasia of the hip

Front 48

Define the pathology in "Developmental dysplasia of the hip"

Common factors indicating the condition?

Back 48

General ligamental laxity
Dislocated, or dislocatable hip


More common in females, firstborn and breech presentation at birth

Front 49

Describe the pathology of Legg-Calvé-Perthes Disease

Back 49

Idiopathic avascular necrosis of the capital femoral epiphysis (femoral head)

Front 50

Clinical presentation of Legg-Calvé-Perthes Disease?

Back 50

Mild intermittent pain in anterior thigh with painless limp, decreased range of motion

Front 51

The most commn adolescent hip disorder is?

Back 51

Slipped Femoral-Capital Epiphysis

Front 52

Describe the X-ray findings in case of Slipped Capital Femoral Epiphysis (SCFE)

Back 52

The femoral neck is rotated anteriorly, while the femoral head remains in the acetabulum

Front 53

Tx of Slipped Capital Femoral Epiphysis?

Back 53

Surgical pinning of femoral neck to femoral head

Front 54

Transient Synovitis
Usually following what kind of infection?

Most common age group?

Back 54

Viral infection, 7-14 days after URI

Most 3-8 years old

Front 55

What can be seen on X-Ray in case of Transient Synovitis?

Back 55

X-Rays are normal

Front 56

Notable labs in Transient Synovitis?

Back 56

Slight increase in ESR

Front 57

Give the medical definition of Osgood-Schlatter Disease

Back 57

Traction apophysitis of tibial tubercle

Front 58

The most common cause of Osteomyelitis and Septic Arthritis is?

Back 58

S. aureus

Front 59

Testing for Osteomyelitis and Septic Arthritis?

Back 59

1. Blood culture --> CBC, ESR, CRP

2. Initial X-Ray to check for other causes

3. USG of joint (aspiration in case of effusion)

4. MRI for bone in suspicion of Osteomyelitis

Front 60

What can be visible on X-Ray in the case of Septic Arthritis?

In a positive finding, what is the next step?

Back 60

An effusion in the joint

USG and aspiration of the joint; arthrocentesis

Front 61

Tx of Osteomyelitis and Septic Arthritis?

Back 61

Antibiotics, always cover for Staph

Front 62

X-Rays in patients with osteomyelitis are initially normal. Changes are not seen until 10-14 days.

Back 62

Now you know

Front 63

Broad definition of Juvenile Idiopathic Arthritis

Back 63

"A heterogenous group of conditions characterized by persistent arthritis in children <16 yrs" -- TN

Front 64

The arthritis in JIA is defined as?

Back 64

1. Joint swelling/effusion OR

2. >2 of the following:

Decreased range of motion

Tenderness or pain on motion

Increased warmth

Front 65

Clinical features of JIA?

Back 65

1. Morning stiffness

2. Easy fatigability

3. Joint pain later in day

--> No erythema

Front 66

Diagnosis of JIA is set using which 5 criteria (According to TN)?

Back 66

1. Arthritis in >1 joint(s)

2. Duration >6 wks

3. Onset age <16 yrs old

4. With exclusion of other causes of arthritis

5. Further classification defined by features/number of joints affected in the first 6 months of onset

Front 67

DDx of JIA includes a lot of diseases
---> Name 4

Back 67

1. SLE

2. Sarcoidosis

3. Scleroderma

4. Rheumatic fever

5. Vasculitis

6. Autoimmune hepatitis

7. Late Lyme disease (3rd stage)

8. Lymphoproliferative disease

Front 68

Oligoarticular juvenile idiopathic arthritis (previously known as "pauciarticular" JIA) is defined by which criteria?

Back 68

JIA involving no more than 4 joints

1. Affects large joints

--> knees > ankles, elbows, wrists, but rarely hips

2. Complications

--> Quadriceps atrophy

--> Growth distrubances

--> Leg length discrepancy

Front 69

Polyarticular JIA is defined by which criteria?

Back 69

JIA involving more than 5 joints

1. RF negative

--> Onset 2-4 yrs and 6-12 yrs, F>M

--> Symmetrically large and small joints, cervical spine

2. RF positive

--> Onset late childhood/early adolescence, F>M

--> Similar to adult Rheumatoid Arthritis

--> Severe, destructive, symmetric destruction, persists to adulthood

--> Rheumatoid nodules at pressure points (elbows, knees)

Front 70

Systemic onset JIA is defined by which criteria?

Back 70

Systemic onset

1. Arthritis and prominent visceral involvement

--> Hepatosplenomegaly
--> Lymphadenopathy

--> Serositis

2. Daily temperature spikes at least 39 degrees for at least 2 weeks

3. Characteristic salmon-colored evanescent rash

Front 71

Although there is no best test to diagnose for JIA, there are some lab tests that could be done to give some indication towards the diagnosis.
Which?

Back 71

1. Increased acute phase reactants (ESR, CRP)

2. Anemia of chronic disease

3. ANA in 40-95% usually seen with poly- and oligoarticular

4. RF+ typically at onset in older child with polyarticular disease and theumatoid nodules

Front 72

Goal of MGMT in JIA?

Back 72

Preservation of Joint Function

Front 73

MGMT of JIA?

Back 73

1. NSAIDs first line drug

2. Methotrexate

3. Corticosteroids have some indications

---> Overwhelming inflammation

---> Systemic illness

---> Bridge therapy

4. Ophthalmology follow-up

Front 74

Which 3 types of drugs can cause a SLE type syndrome?

Back 74

1. Anticonvulsants

2. Sulfonamides

3. Antiarrhythmics

Front 75

Libman-Sacks endocarditis has a strong association with which other disease?

Back 75

SLE

Front 76

SLE Diagnosis criteria, using the pneumonic "Soap Brain MD"

Back 76

Serositis

Oral Ulcers

Arthritis

Photosensitivity

Blood disorders

Renal disorders
ANA positive
Immune disorders (anti-DNA, Smith)

Neuroloic disorders

Malar Rash

Discoid Rash

Front 77

Best screening test for SLE is?

Best test overall for SLE is?

Back 77

ANA

Anti ds-DNA (only reliable during active disease)

Front 78

MGMT of SLE?

Back 78

1. NSAIDs for arthritis if no renal disease

2. Corticosteroids for kidney and other acute manifestations

3. Cyclophosphamide for severe disease
--> Nephritis

--> Vasculitis

--> Pulmonary hemorrhage

--> CNS disease

Front 79

Most dangerous effect of "Neonatal Lupus"
(transfer IgG autoantibodies (usually anti-Rho) across placenta from 12-16 wks)

Back 79

Heart Block

Front 80

Define Kawasaki Disease

Can lead to death by..?

Back 80

"
--> Acute vasculitis of unknown etiology (likely triggered by infection)

--> medium-sized vasculitis with predilection for coronary arteries

" -- TN

Coronary Artery Aneurysms

Front 81

What is the most common cause of aquired heart disease in children in developed countries?

Back 81

Kawasaki Disease

Front 82

What is the peak age of onset of Kawasaki Disease?

Race?

Back 82

3 mo - 5 yrs

--> Asians > Blacks > Caucasians

Front 83

Kawasaki Disease is a diagnosis of exclusion, the most important feature being a fever of >5 days plus 4/5 of the following symptomes --->

Back 83

1. Bilateral nonpurulent conjunctival injection

2. Red infected fissured lips, strawberry tongue, injected pharynx

3. Peripheral extremity changes

--> Edema/erythema, desquamation/peeling

4. Polymorphous Rash

5. Cervical lymphadenopathy >1,5 cm

Front 84

Which diseases in particular should be excluded when considering Kawasaki Disease?

Back 84

Scarlet Fever and Measles

Front 85

Describe atypical Kawasaki Disease

Back 85

Less than 5 of 6 diagnostic features, BUT!

----> Coronary Artery Involvement

Front 86

Non-important, non-spesific findings in Kawasaki Disease?

Back 86

Extreme irritability

Aseptic meningitis

Diarrhea

Hepatitis

Hydrops (edema) of gallbladder (may cause slight jaundice)

Urethritis with sterile pyuria

Otitis media

Arthritis

Front 87

Cardiac findings in Kawasaki Disease?

Which imaging test should be used to check?

Back 87

1. Tachycardia and decreased ventricular function

2. Pericarditis

3. Aneurysms in 2nd to 3rd week

Echocardiogram

Front 88

Treatment of Kawasaki Disease?

Back 88

1. IVIG (2g/kg) within 10 d of onset reduces risk of coronary aneurysm formation

2. High (anti-inflammatory) dose of ASA while febrile

3. Low (anit-platelet) dose of ASA in subacute phase until platelets normalize or longer if coronary artery involvement

Front 89

Lab values in Kawasaki Disease?

Back 89

WBC - normal to increased

ESR, CRP - Increased

Normocytic anemia

Platelest high to normal week 1, then increased in weeks 2 to 3 to often >1 mil

Sterile pyuria

Front 90

Prognosis in Kawasaki Disease?

Back 90

Good
--> No evidence of long-term cardiovacular sequelae in those who do not have coronary abnormalities within 2 months of onset

Front 91

What is Reye Syndrome?

Back 91

An extremely rare, rapidly progressing encephalopathy that usually occurs following an acute viral infection (especially with influenza and varicella)
Linked to the use of Aspirin (ASA) in children with viral disease.

Front 92

Define Henoch-Schønlein Purpura (HSP)

Back 92

"IgA-mediated vasculitis of small vessels" -- Kaplan

Front 93

What is the most common vasculitis of childhood (with peak incidence 4-10 yrs)

M/F:2/1

Back 93

Henoch-Schønlein Purpura (HSP)

Front 94

Most common cause of nonthrombocytopenic purpura in children?

Back 94

HSP

Front 95

Henoch-Schønlein Purpura
Age group presentation?

Common etiology?

M:F?

Back 95

2-8 yrs

Usually follows a Upper Respiratory Infection

M>F

Front 96

Case:
"A 5 yr-old boy is seen with maculopapular lesions on the legs and buttocks. He complains of abdominal pain. He has recently recovered from a viral upper respiratory infection. Complete blood cell count, coagulation studies, and electrolytes are normal. Microscopic hematuria is present on urine analysis."

Dx?

Back 96

Henoch-Schønlein Purpura

Front 97

What is the clinical hallmark of HSP?

Back 97

Pink, maculopapular rash below waist; progresses to petechiae and purpura (red --> purple --> rusty brown); crops over 3-10 days (at times in intervals up to 3-4 months)

Front 98

What are the changes in Immunoglobulin values seen in HSP?

What can be seen in urine?

Stool?

Back 98

Increased IgA and IgM

RBCs, WBCs, RBC casts, albumin

Heme-positive stool

Front 99

How is the Dx of HSP made?

Back 99

Diagnosis is based on clinical presentation, however if definitive diagnosis is needed (very rarely) you can do:
1. Skin biopsy

2. Renal bipsy --> IgA mesangial deposition

---> occasional IgM, C3 and fibrin

Front 100

Tx of HSP?

Back 100

Symptomatic treatment for a self-limited disease

--> Intestinal --> Corticosteroids oral or IV

Front 101

Gastrointestinal clinical presentation in HSP?

Back 101

Intermittent abdominal pain

Occult blood in stools

Diarrhea or hematemesis

Intussusception may occur

Front 102

Complications of HSP?

Back 102

1. Renal insufficiency or failure

2. Bowel perforation

3. Scrotal edema and testicular torsion

Front 103

Diagnostic Criteria of Kawasaki Disease, using the pneumonic "Warm CREAM"

Back 103

Warm = Fever >5 days

Conjunctivitis

Rash

Edema/Erythema (hands and feet)

Adenopathy (cervical)

Mucosal involvement

Front 104

Case:
"An 18 month-old child of Mediterranean origin presents to the physician for routine well-child care. The mother states that the child is a "picky" eater and prefers milk to solids. In fact, the mother states that the patient, who still drinks from a bottle, consumes 1,89 L of cow milk per day. The child appears pale. Hb and Hct were measure; and the Hb is 6,5 g/dL and the Hct is 20%. The mean corpuscular colume (MCV) is 65 fL (NR 80-100 fL)"

Dx?

Back 104

Iron-Deficiency Anemia

Front 105

Physiologic Anemia of Infancy
Downregulation of erythropoietin, which sees a drop in Hb over 2-3 months after birth until oxygen needs are > what is currently delivered.

At 8-12 wks in term babies, the infant will reach a nadir in Hb values. What is the normal value of this nadir?

Back 105

9-11 mg/dL

Front 106

What is the most common anemia of childhood?

Back 106

Iron Deficiency Anemia

Front 107

Clinical presentation:

1. Pallor

2. Irritability

3. Lethargy

4. Pagophagia - Ice, dirt

5. Tachycardia, systolic murmur

6. Long-term developmental effects

Dx?

Back 107

Iron Deficiency Anemia

Front 108

No need to do a bone marrow aspiration to diagnose Iron Deficiency Anemia.

Where can one easily check for IDA?

Back 108

Stool, occult blood will be found

Front 109

Tx of Iron Deficiency Anemia?

What will be visible on a BT within 72-96 hours of giving iron supplementation?

Back 109

Oral Ferrous Salts

Reticulocytosis

Front 110

What is the most common clinical presentation of Lead Poisoning?

Back 110

Behavioral changes

--> Hyperactivity in younger
--> Aggression in older

Front 111

Best way to diagnose lead poisoning?

What sort of anemia will patients with lead poisoning present with?

Back 111

Venous blood sample, measure lead level.

Microcytic, hypochromic anemia

Front 112

Tx of lead poisoning?

Back 112

Chelation therapy (EDTA)

Front 113

Triphalangeal thumbs is associated with which congenital anemia?

Back 113

Blackfan-Diamond Syndrom
(Congenital Pure Red-Cell Anemia)

Front 114

Define Blackfan-Diamond Syndrome
(Congenital Pure Red Cell Anemia)

Back 114

Increased programmed death of RBCs.
--> Severe anemia by 2-3 months of age

Front 115

Form of anemia in Blackfan-Diamond Syndrome?

Tx?

Back 115

Macrocytosis, very low reticulocytes, bone marrow failure

Tx ---> Corticosterids, transfusions, splenectomy

Front 116

Case:

"A 2-yr old presents to the physician with aplastic anemia. The patient has microcephaly, microphthalmia and absent radii and thumbs."

Dx?

Back 116

Congenital Pancytopenia
Most common form --> Fanconi Anemia

Front 117

Physical abnormalities in Fanconi Anemia?

Back 117

1. Short stature

2. Absent or hypoplastic thumbs

3. Hyperpigmentation and café-au-lait spots

Front 118

What will a test of bone marrow function show in Fanconi Anemia?

Back 118

Bone marrow hypoplasia of all three cell lines

This finding is diagnostic

Front 119

Fanconi Anemia presents with increased risk of which diseases?

Back 119

AML and other cancers

Bone Marrow failure consequences
--> Infection
--> Bleeding
--> Severe anemia

Front 120

Tx of Fanconi Anemia?

Back 120

1. Corticosteroids and androgens

2. Transfusions, antibiotics

3. Bone Marrow Transplant

Front 121

Anemia of Chronic Disease and Renal Disease will present as which kind of anemia?

Back 121

Normochromic and normocytic

Front 122

What are the physiologic reason for Megaloblastic Anemias?

Two most common are?

Back 122

Ineffective erythropoiesis

Folate Acid or B12 (Cobalamin) Deficiency from malnutrition

Front 123

Define Macrocytosis

Back 123

MCV >100 fL

Front 124

Goat's milk feeding of an infant will cause which kind of anemia?

Back 124

Folic Acid Deficiency Anemia

Front 125

Define Anemia

Back 125

"A decrease in red blood cell (RBC) mass that can be detected by hemoglobin (Hb) concentration, hematocrit (Hct) and RBC count." -- TN

Front 126

Congenital anomalies in cases of Blackfan-Diamond Syndrome?

Back 126

1. Short stature

2. Craniofacial deformities

3. Defects of upper extremities --> triphalangeal thumb

Front 127

The causes of Microcytic Anemia, using the pneumonic:

"TAILS"

Back 127

Thalassemia

Anemia of chronic disease

Iron deficiency

Lead poisoning
Sideroblastic anemia

Front 128

Lead Poisoning
Acceptable BLL (Blood Lead Level) amounts must exceed?

Back 128

Kaplan:
5 or 10 ug/dL

TN:
80 ug/dL, possible symptomatology at 50 ug/dL

????????

Front 129

If you see decreased reticulocyte count on a blood smear, it will mean the problem is most likely situated where?

Back 129

In the Bone Marrow

Front 130

Transient Erythroblastopenia of Childhood (TEC) is a severe transient hypoplastic anemia occuring in which age group?

Back 130

Between 3 months and 6 yrs of age

Front 131

Folic Acid Deficiency
Peaks at what age?

Symptomes?

Back 131

4-7 months of age

Irritability, Failure to thrive, chronic diarrhea

Front 132

B12 deficiency anemia will present with which symptomes?

Back 132

Weakness, fatigue, failure to thrive, irritability and pallor

Glossitis (smooth tounge)

Diarrhea, vomiting, jaundice

Front 133

Normal Hb values by age
Newborn
2 wk

3 mo

6 mo - 6 yrs

7-12 yrs

Adult female
Adult male

All values given in g/L

Back 133

N --> 137 - 201

2 --> 130 - 200

3 --> 95 - 145

6 --> 105 - 140

7 --> 110 - 160

AF -> 120 - 160
AM -> 140 - 180

All values given in g/L

Front 134

The Hemolytic Anemias in childhood:
Hereditary Spherocytosis and Elliptocytosis
Mode of inheritance?

Back 134

Autosomal Dominant

Front 135

The Hemolytic Anemias in childhood:

Hereditary Spherocytosis and Elliptocytosis

Describe the logical steps of the disease

Back 135

Abnormal RBC shape -->
Decreased deformability -->
Early spleninc removal -->
Hemolysis

Front 136

The Hemolytic Anemias in childhood:

Hereditary Spherocytosis and Elliptocytosis

Clinical presentation

Back 136

1. Anemia and hyperbilirubinemia in newborn

2. Hypersplenism, gallstones

3. Susceptible to aplastic crisis

Front 137

Labs in Spherocytosis
Describe the values of reticulocytes and bilirubin

Back 137

Both are increased

Front 138

Heinz bodies are typical for which type of anemia?

Back 138

Glucose-6-phosphate dehydrogenase (G6PD)

Front 139

Sickle Cell Anemia etiology?

Back 139

Single base-pair change

-- Thymine for Adenine --

at 6th codon of beta gene

(Valine is created instead of Glutamate)

Front 140

Types of Sickle Cell Anemia, in order from most severe --> less severe --> rare

Back 140

Severe --> SS

Less severe --> SC, S-Beta thalassemia

Rare --> SD

Front 141

What is most commonly the first presentation of Sickle Cell Disease in an infant?

Back 141

Hand-Foot Syndrome = Acute distal dactylitis

--> Painful swelling of hands and feet

Front 142

Sickle Cell Disease
Some children may start having functional asplenia by which age?

By what age does every child have functional asplenia?

Back 142

6 months (due to infarcts of the spleen)

5 years

Front 143

Sickle Cell Disease
A child will start developing hemolytc anemia by which age?

Back 143

2-4 months, due to replacement of HbF

Front 144

Aplastic Crisis/Reticulocytopenia/Marrow failure is the term for decrease of reticulocytes in the blood leading to severe anemia. This can be caused by parvovirus B19.

Patients will be more susceptible to Aplastic Crisis when suffering from which Autosomal Dominant disorder?

Back 144

Hereditary Spherocytosis & Elliptocytosis

Front 145

The newborn with Sickle Cell Anemia will be asypmtomatic. Why?

Back 145

Due to high concentration of HbF

Front 146

Describe the presentation of Acute Sickle Cell Crises

Back 146

Episodes of acute pain
Precipitated by fever, hypoxia, acidosis or without any factors

Affects extremities, head, chest, back and abdomen

Front 147

More extensive crises with Sickle Cell Disease can present with?

Back 147

1. Avascular necrosis of hip

2. Osteomyelitis (Salmonella)

3. Splenic autoinfarction

4. Stroke (6-9 yrs)

5. Acute chest syndrome (pain due to hypoxia)

6. Priapism (adolescence)

Front 148

Describe the Aplastic Crisis, seen in Sickle Cell Disease

Back 148

Depression of erythropoiesis (decreased reticulocyte count to <1% --> decreased Hb)

Generally associated with infection with Parvovirus B19

Front 149

Describe the Vaso-Occlusive Crisis, seen in Sickle Cell Disease

Back 149

Due to obstruction of blood vessels by rigid, sickled cells --> Tissue hypoxia --> Cell death.

Presents as fever and pain in any organ

Front 150

Describe the Acute Chest Crisis, seen in Sickle Cell Disease

Back 150

Fever, chest pain, progressive respiratory disease

Increased WBC count, pulmonary infiltrates

Front 151

Types of Crises in Sickle Cell Disease varies.

Describe the reticulocyte amount in Aplastic Crisis and Acute Splenic Sequestration

Back 151

Aplastic Crisis --> Reticulocyte count <1%

Acute Splenic Sequestration --> Reticulocyte count increased, along with acute fall in hemoglobin, tender spleen and shock

Front 152

Functional Asplenia in a child with Sickle Cell Disease, means that the child is susceptible to infection by which organisms?

Back 152

Encapsulated organisms --> Especially S. pneumoniae

Front 153

What should be ruled out in a child with Functional Asplenia from Sickle Cell Disease who is experiencing a febrile episode?

Back 153

1. Bacteremia
2. Meningitis
3. Acute chest syndrome

4. Osteomyelitis due to Salmonella

Front 154

Labs in moderate Sickle Cell Disease?

Back 154

1. Increased reticulocytosis

2. Mild-to-moderate anemia

3. Normal MCV, nucleated RBCs

Front 155

Labs in severe Sickle Cell Disease?

Back 155

Target cells, poikilocytes, hypochromasia

Sickle RBCs, Howell-Jolly bodies

Front 156

Howell-Jolly bodies found in blood signifies what?

Back 156

Asplenia, trauma to spleen or Functional Asplenia caused by Sickle Cell Disease

Front 157

What is the best test for Sickle Cell Anemia?

How can you screen for SCD prenatally?

Back 157

Hb electrophoresis

Screen parents for trait

Front 158

Tx of Sickle Cell Disease?

Back 158

1. Increased Immunizations after 2 years (23 valent PPV)

2. Penicillin prophylaxis at 2 months

3. Folate supplementation

----> tranfusions & hydroxyurea (to increase HbF)

Front 159

Definitive Tx for SCD?

Back 159

Bone Marrow Transplant

Front 160

Case:
"A 9-year-old has a greenish-brown complexion, maxillary hyperplasia, splenomegaly and gallstones. Her Hb levels is 5.0 g/dL and MCV is 65 mL"

Dx?

Back 160

Beta Thalassemia Major (Cooley Anemia)

Front 161

Define Beta-Thalassemia Major (Cooley's Anemia)

Back 161

Excess alpha globin chains --> Alpha tetramers form --> Increase in HbF

No problems with gamma chain production

Front 162

Labs in Beta-Thalassemia Major (Cooley's Anemia)

Back 162

Infants born with HbF only (seen on Hb electrophoresis)

Severe anemia, low reticulocytes, increased nucleated RBCs, hyperbilirubinemia, microcytosis

Front 163

Which typical radiological sign can be seen in patients with Thalassemia and Sickle Cell Disease?

Why does it present in these diseases?

Back 163

Hair-on-end Appearance (Punk Baby)

Results from "accentuated vertical trabeculae between the inner and outer tables of the skull because of excessive bone marrow hyperplasia"

Front 164

Historical evaluation of Bleeding Disorders is usually the best.

On exam, you find mucocutaneous bleeding, petechiae, small ecchymoses. This most likely points to?

Back 164

von Willerand disease or platelet dysfunction

Front 165

Historical evaluation of Bleeding Disorders is usually the best.

On exam, you find deep bleeding (muscle & joints), more extensive ecchymoses and hematoma.
This most likely points to?

Back 165

Clotting factor disorders (Hemophilia)

Front 166

Bleeding disorder work-up includes the following measurements?

If normal?
If abnormal?

Back 166

Platelets, PT & PTT

Normal --> vW factor testing and thrombin time

Abnormal --> Further clotting factor workup

Front 167

Bleeding time measures?

Useful in suspicion of which diseases?

Back 167

Platelet function and interaction with vessel walls

Qualitative platelet defects or vWD

Front 168

PTT measures?

PT measures?

Back 168

PTT --> Intrinsic pathway from factor XII through final clot (Prolonged by deficiency of VIII, IX, XI & XII)


PT --> Extrinsic pathway (Prolonged by deficiency of VII, XIII or anticoagulants)

Front 169

Thrombin time measures which step?

Back 169

Final step: Fibrinogen --> Fibrin

Front 170

Hemophilia A is the classic hemophilia with 85% of cases. It's a deficiency of which factor?

Both are X-Linked

Hemophilia B is deficiency of which factor?

Back 170

A --> VIII


B --> IX

Front 171

What is the hallmark of Hemophilias?

Back 171

Hemarthroses --> Bleeding into joints

Front 172

Patients with Hemophilia will have which results on the following tests?
PTT
PT
Platelets
Bleeding Time
vWF

Back 172

PTT --> 2-3x increase (longer)

The rest will be normal

Front 173

Which is the most common of the hereditary bleeding disorders?

Mode of inheritance?
Sex?

Back 173

von Willebrand Disease

AD
F>M

Front 174

Which tests will be increased in vWD?

What is the best Dx test?

Back 174

PTT and Bleeding Time will be increased

Best test --> Qunatitative Assay for vW Factor Ag

Front 175

Vitamin K is important in newborns for which clotting factors?

Back 175

II, VII, IX and X

Front 176

All clotting factors are produced exclusively in liver, except for?

Back 176

Factor VIII (also produced by endothelial cells)

Front 177

Hepatosplenomegaly and lymphadenopathy with suspicion of Immune Thrombocytopenic Purpura (ITP) should suggest?

Back 177

Another disease. PE in ITP is usually normal

Front 178

What is the pathomechanism of Immune Thrombocytopenic Purpura?

Back 178

Autoantibodies against platelet surface --> Causes destruction of platelets

Front 179

Most Immune Thrombocytopenic Purpura will resolve within 6 months.

What procentage of children will develop chronic ITP?

Back 179

Now you know.

10-20%

Front 180

Which examination should be done to confirm the diagnosis when suspecting Immune Thrombocytic Purpura?


This ex. should be done before starting which Tx?

Back 180

Bone Marrow Aspiration

Steroids

Front 181

Which Blood Lead Levels are dangerous?

Which BLL can lead to symptomes?

Back 181

>80 ug/dL

>50 ug/dL