Pathology3

Question 0

Thymic and parathyroid aplasia due to failure of 3rd and 4th pharyngeal arch development

Answer 0

DiGeorge syndrome

Question 1

X-linked tyrosine kinase defect blocks B cell maturation seen in boys

Answer 1

Bruton’s agammaglobulinemia

Question 2

Often X linked with defective B cell and T cell activation

Answer 2

Severe Combined Immune Deficiency

Question 3

X linked defect with progressive depletion of B and T cells

Answer 3

Wiskott-Aldrich syndrome

Question 4

Autosomal recessive defect in phagocytosis

Answer 4

Chediak-Higaski syndrome

Question 5

Glucose-6-Phosphate deficiency accumulates in the liver

Answer 5

Von Gierke

Question 6

Muscle phophorylase deficiency accumulates in the muscles

Answer 6

McArdle

Question 7

Maltase deficiency affects the heart pump

Answer 7

Pompe

Question 8

Gangliosides accumulation in the brain; rapidly fatal
Cherry red macula
severe mental retardation

Answer 8

Tay-Sachs

Question 9

Glucocerebrosides accumulate in the liver and spleen- most common

Answer 9

Gaucher

Question 10

Sphingomyelin accumulation in the liver and brain

Answer 10

Niemann Pick

Question 11

Deficiency in homogentistic acid, urine turns black on standing, dark damaged cartilage- ochronosis

Answer 11

Alkaptonuria- amino acid disorder

Question 12

Neoplasia caused by the Epstein Barr virus and is more common in children. Characterized by a starry-sky appearance.

Answer 12

Burkitt’s lymphoma

Question 13

Neoplasia characterized by Reed-Sternburg cells. Common in adults

Answer 13

Hodkin’s lymphoma

Question 14

Neoplasia is an adrenal medulla tumor which secretes excess norepinehrine.
It is characterized by paroxysms of palpitations, perspiration and pressure headaches

Answer 14

Pheochromocytoma

Question 15

Neoplasia which is a mixed tumor of the kidneys

Most common renal tumor in children

Answer 15

Wilm’s tumor