Pediatrics

Question 1

Red spots with bluish specks over the buccal mucosa

Answer 1

Koplik’s spots - Measles (Paramyxovirus infection)

Question 2

What type of virus causes measles?

Answer 2

Paramyxovirus

Question 3

Chronology of measles

Answer 3

1. Exposure to virus, respiratory droplets
2. Prodrome after 10 days (cough, coryza, conjunctivitis)
3. Koplik’s spots appear 48 hours before skin rash
4. Erythematous maculopapular rash starts on face -> trunk and extremities

Question 4

Which virus causes roseola?

Answer 4

HSV-6

Question 5

Complications of measles?

Answer 5

Early: PNA, vitamin A deficiency, bronchiectasis
Late: Immunosuppression and subacute sclerosing pancencephalitis

Question 6

Causes erythema infectiosum

Answer 6

Parvovirus

Question 7

Hypotonia, hepatosplenomegaly, cervical lymphadenopathy, protruding abdomen, ‘cherry red spot’ on retinal examination. Regression of developmental milestones

Answer 7

Niemann-Pick’s disease

Question 8

What is Niemann-pick’s disease?

Pathophysiology of this disease?

Answer 8

Sphingolipidosis due to deficiency of SPHINGOMYELINASE.

Sphingomyelin (ceramide phosphorylcholine) accumulates in the reticuloendothelial cells of liver, spleen, bone marrow, brain.

Question 9

Deficiency in Tay-Sach’s

Answer 9

HEXOSAMINIDASE A

Question 10

Hyperacusis
Mental retardation
Seizures
Cherry red macula
NO hepatosplenomegaly
NO cervical lymphadenopathy

Answer 10

Tay-Sach’s disease

Question 11

Deficiency in Gaucher’s disease?

Answer 11

GLUCOCEREBROSIDASE - a sphingolipidosis

Question 12

Hepatosplenomegaly
Anemia
Leucopoenia
Thrombocytopenia
NO cherry red macula

Answer 12

Gaucher’s disease - a spingolipidosis due to deficiency in glucocerebrosidase

Question 13

Hyperacusis
Irritability
Seizures

Answer 13

Krabbe’s disease - GALACTOcerebrosidase deficiency

Question 14

Deficiency in Krabbe’s disease

Answer 14

GALACTOcerebrosidase deficiency

Question 15

GALACTOcerebrosidase deficiency

Answer 15

Krabbe’s disease

Question 16

deficiency in glucocerebrosidase

Answer 16

Gaucher’s disease

Question 17

Hexosaminidase A deficiency

Answer 17

Tay-Sach’s

Question 18

Sphingomyelinase deficiency

Answer 18

Niemann-pick’s

Question 19

Coarse facial features
Hydrocephalus
Umbilical hernia

Answer 19

Mucopolysaccharidoses

Question 20

7 year old boy with bleeding gums, fatigability, punding sensation in ears, 5th percentile growth, bent thumbs, hypopigmentation. Hgb 7.8g/dL, MCV 112, platelets 40,000/mm3

Answer 20

FANCONI ANEMIA - AR disorder causes congenital marrow failure, poor growth, morphologic abnormalities, macrocytic anemia

Question 21

Clinical manifestations of fanconi anemia?

Answer 21

BONE MARROW - aplastic anemia and progressive bone marrow failure

APPEARANCE - short stature, microcephaly, abnormal thumbs, hypogonadism

SKIN - Hypopigmented/hyperpigmented areas, cafe au lait spots, large freckles

EYES/EARS - strabismus, low-set ears, middle ear abnormalities, hemorrhage, incomplete development, chronic infections, deafness

Question 22

Industrial chemical known to cause aplastic anemia?

Answer 22

Benzene

Question 23

Approximately 5-15% of patients with thymic tumors have this?

Answer 23

Pure red cell aplasia, m/c in older women

Question 24

The leading cause of cobalamin deficiency?

Answer 24

Autoimmune pernicious anemia due to anti-intrinsic factor autoantibodies.

Question 25

Sore throat, hyperemic and edematous oropharyngeal mucous membranes, cheilitis, stomatitis, glossitis, normocytic-normochromic anemia, seborrheic dermatitis, photophobia

Answer 25

Riboflavin deficiency (Vitamin B2)

Question 26

What is pellagra?

Answer 26

Niacin deficiency (Vitamin B3) symmetric reddish rash in skin, red tongue, nonspecific symptoms - diarrhea, vomiting, insomnia, encehphalopathy

Question 27

Vascular ring anomaly How would you differentiate presentation of this disease from esophageal atresia?

Answer 27

trachea and esohagus are completely encircled by the aortic arch and its branches. Noisy breathing noted in first few weeks of life. Esophageal symptoms such as choking, vomiting or dysphagia occur in OLDER infants and children (not infants)

Question 28

Normal Hg for male

Answer 28

13.5-17.5 g/dL

Question 29

Peripheral smear shows schistocytes and giant platelets

Answer 29

Microangiopathic hemolytic anemia (Hemolytic uremic syndrome)

Question 30

Labs on ITP

Answer 30

ISOLATED thrombocytopenia, Morphology of red cells is normal!

Question 31

Child recently recovered from diarrheal illness presents with acute renal failure, microangiopathic hemolytic anemia, fever, thrombocytopenia + Schistocytes

Answer 31

HEMOLYTIC UREMIC SYNDROME

Question 32

Classic triad for HUS?

Answer 32

Microangiopathic Hemolytic Anemia Acute Renal Failure Thrombocytopenia

Question 33

Pathophysiology of HUS?

Answer 33

Related to Escherichia coli 0157:H7 infection (STEC) - Proinflammatory factors (IL-8, TNFa) - Prothombotic Changes - Fibrin deposited in renal microvasculature - Verocytotoxin induces endothelial injury - Red Blood Cell destruction - Platelet destruction, consumption, sequestration - Platelet thrombus formation

Question 34

Normal LDH

Answer 34

45-90 U/L May be elevated ~900 in HUS

Question 35

Normal ESR?

Answer 35

Male 0-15 mm/h | Female 0-20 mm/h

Question 36

M/C cause of hip pain in children? Most common age groups?

Answer 36

TRANSIENT SYNOVIITS - typically occuring in boys age 3-10. Follows viral infection or mild trauma.

Question 37

Tx for transient synovitis?

Answer 37

Rest and ibuprofen | B/L hip x-rays to assess for Legg-Calve-Perthes disease

Question 38

Features of septic arthitis of the hip?

Answer 38

``` Fever > 101F Inability to bear weight WBC > 12k/mm3 ESR >40 mm/h CRP > 2mg/dL ```