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Anatomic Pathology > Pediatrics > Flashcards

Pediatrics Flashcards

1
Q

Gaucher’s disease deficiency

A

Glucocerebrosidase

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2
Q

Mucopolysaccharidoses (2)

A

Hurler, Hunter

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3
Q

Hurler syndrome deficiency

A

Alpha-L-iouronidase

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4
Q

Alder-Reilly granules

A

In WBCs in Hurler syndrome

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5
Q

Pompe dz deficiency

A

Glucosidase (acid maltase)

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6
Q

Cystic fibrosis gene and chromosome

A

CFTR

Chromosome 7q

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7
Q

Common bacteria in CF

A

S. aureus
Pseudomonas aeruginosa
Burkholderia cepacia

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8
Q

PKU deficiency

A

Phenylalanine hydroxylase

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9
Q

Cyanotic heart defects

A 
Truncus arteriosus
Transposition of the great arteries
Tricuspid atresia
Tetraolgy of Fallot
Total anomalous pulmonary venous return
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10
Q

Tetraolgy of Fallot

A

Pulmonary stenosis
Overriding aorta
Ventricular septal defect
R. ventricular hypertrophy

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11
Q

Beckwith-Weidemann syndrome features

A

Macrosomia, large tongue, omphalocele

11p duplication

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12
Q

Beckwith-Weidemann syndrome associated tumors

A

Wilms tumor
Hepatoblastoma
Nesidioblastosis
Adrenal cytomegaly

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13
Q

Syndromes assd with Wilms

A

WAGR
Denys-Drash
Beckwith-Weidemann

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14
Q

Tay-Sachs deficiency

A

Hexosaminidase A

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15
Q

Gene assd with Hirschsprung

A

RET gene

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16
Q

Neuroblastoma genetics

A

N-myc amplification

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17
Q

Embryonal rhabdomyosarcoma genetics

A

11p loss

18
Q

Ewing/PNET genetics

A

t(11;22)

EWS-FLI1

19
Q

Translocation in congenital mesoblastic nephroma and juvenile fibrosarcoma

A

t(12;15)

ETV-NTRK3

20
Q

Rb gene location

A

13q

21
Q

DSRCT translocation

A

t(11;22)

EWS-WT1

22
Q

Cerebellar lesions in children

A

Pilocytic astrocytoma
Medulloblastoma
Ependymoma

23
Q

Syndromes associated with hepatoblastoma

A

Beckwith-Weidemann syndrome

Familial adenomatous polyposis

24
Q

Also called “bone-metastasizing tumor”

A

Clear cell sarcoma of kidney

25
Q

Lesch-Nyhan syndrome defect

A

hypoxanthine guanine phosphoribosyl transferase
accumulation of purines
“orange sand” uric acid crystals in diaper

26
Q

Niemann-Pick disease deficiency

A

sphingomyelinase

27
Q

Von Gierke’s dz deficiency

A

glucose-6-phosphatase

28
Q

Congenital pulmonary airway malformation associated with severe anomalies (renal agenesis)

A

CPAM type 2 - poor prognosis
Small cysts, dilated bronchioles
blends with normal lung

29
Q

Most common CPAM type

A

CPAM type 1 - good prognosis

Large cysts, cartilage, mucous cells

29
Q

DiGeorge genetics

A

22q11 microdeletion

30
Q

Syndrome at risk for transfusion assd GVHD

A

DiGeorge

31
Q

Worlds most common cause of hydrops fetalis

A

Thalassemia

32
Q

Infectious causes of hydrops fetalis (3)

A

Syphilis
CMV
ParvoB19

33
Q

Level of unconjugated bilirubinemia that can cause kernicterus in preemie

A

12mg/dL

34
Q

WAGR syndrome

A 
Wilms
Aniridia
Genital abnormalities
Retardation
11p13 del
35
Q

Denys-Drash syndrome

A

Wilms
Gonadal dysgenesis
Mesangial sclerosis
11p13 del

36
Q

Elevated in neuroblastoma

A

Urine VMA
HVA
Serum ferritin
NSE

37
Q

Extralobar sequestration of lung

A

congenital
connected to systemic vasculature (not rest of lung)
may look like normal lung

38
Q

Intralobar sequestration of lung

A

acquired

ciliated epithelium, cartilage, goblet cells

39
Q

CPAM type that looks like pleuropulmonary blastoma

A

CPAM type 4

Anatomic Pathology (15 decks)

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