Chapter 5 diseases

Question 1

Chronic lung disease secondary to recurrent infections, pancreatitis and insufficiency, malnutrition/ failure to thrive, intestinal obstruction, male infertility, typically presents in Caucasians, meconium ileus

Answer 1

Cystic Fibrosis
Autosomal Recessive
CFTR gene on 7q31.2

Question 2

Mental retardation, hypopigmentation, musty-smelling urine, typically in Caucasians of Scandinavian descent

Answer 2

PKU
Autosomal Recessive
PAH (phenylalanine hydroxylase) deficency

Question 3

Tall, long extremities, double jointed, dolicocephalic (long head), pectus excavatum, ectopia lentis (dislocated lens), mitral valve prolapse, aortic dissection

Answer 3

Marfan Syndrome
Autosomal Dominant
Defect in fibrillin (extracellular glycoprotein)
FBN1 on 15q21.1
or
FBN2 on 5q23.31

Question 4

Stretchable, fragile skin, rupture of arteries or intenstines, ocular fragility, diaphragmatic hernia, hypermobility, joint dislocations,

Answer 4

Ehlers-Danlos Syndrome
3 types
Classic (I/II): AD, COL5A1, COL5A2
Vascular (IV): AD, COL3A1
Kyphoscoliosis (VI): AR, Lysyl hydroxylase

Question 5

Skin and joint hypermobility, atrophic scars, easy bruising

Answer 5

Ehlers-Danlos

Classic (I/II): AD, COL5A1, COL5A2

Question 6

Thin skin, arterial or uterine rupture, bruising, small joint hyperextensibility, colon rupture

Answer 6

Ehlers-Danlos

Vascular (IV): AD, COL3A1

Question 7

Hypotonia, joint laxity, congenital scoliosis, ocular fragility

Answer 7

Ehlers-Danlos

Kyphoscoliosis (VI): AR, Lysyl hydroxylase

Question 8

Tendinous xanthomas (cholesterol deposits along tendons), atherosclerosis, elevated blood cholesterol, cholesterol deposits in eye, eyelid, or tendons

Answer 8

Familial Hypercholesterolemia
Autosomal dominant
mutation in LDL receptor

Question 9

motor and mental deterioration at 6 months, blindness, dementia, death by age 3, Cherry red spot in macula, positive stains for oil red 0 and Sudan black B, common in eastern European Ashkenazic Jews

Answer 9

Tay-Sachs
lysosomal storage disease
deficiency in hexosaminidase A leads to accumulation of Gm2 gangliosidosis

Question 10

Neurological deficits, splenomegaly, organomegaly, foamy cytoplasm, zebra bodies, cherry red spot in retina may be present, common in Ashkenazic Jews

Answer 10

Niemann-Pick disease
lysosomal storage disease
deficiency in sphingomyelinase on 11p15.4
Autosomal recessive
Type A: most severe, complete lack of enzyme
Type C: most common, progessive neurological damage

Question 11

Accumulation of phagocytes, Splenomegaly, distended phagocytic cells in liver, spleen, bone marrow, immune system tissues, looks like crumpled tissue paper, Some types common in ashkenazic jews

Answer 11

Gaucher Disease
Autosomal recessive
mutation in glucocerebrosidase
lysosomal storage disease
Type I: most common, least lethal, no CNS involvement
Type II: most lethal, not jewish, infantile form
Type III: intermediate

Question 12

Course facial features, corneal clouding, joint stiffness, mental retardation, hepatosplenomegaly, death by age 6-10 by MI, growth retardation, balloon cells, zebra bodies, depositions of ____ in cardiovascular system, spleen, liver

Answer 12

Hurler Mucopolysaccharidoses (MPS-IH)
Autosomal recessive
deficiency in Alpha-L-iduronidase (degrading glycosaminoglycans)

Question 13

Slight Course facial features, NO corneal clouding, mild joint stiffness, mild mental retardation, balloon cells, zebra bodies, depositions of ____ in cardiovascular system, spleen, liver

Answer 13

Hunter Mucopolysaccharidoses (MPS-II)
X-linked recessive
deficiency in L-iduronosulfate sulfatase (degrading glycosaminoglycans)

Question 14

Failure to thrive, hepatomegaly, renomegaly, hypoglycemia,

Answer 14

Von Gierke disease
G6P deficiency
X-linked recessive

Question 15

Cardiomegaly, hepatosplenomegaly, muscle hypotonia, cardiorespiratory failure w/in 2 years, glycogen seen w/in sarcoplasm of cardiac muscle and skeletal muscle

Answer 15

Pompe disease
lysosomal glucosidase deficiency
AR

Question 16

mental retardation, epicanthal folds, flat face, small ears, short broad hands, wide gap between toes, fissured tongue,

Answer 16

Down’s syndrome
Trisomy 21 from a robertsonian translocation
increased risk for leukemia, alzheimers, serious infections, Atrioventricular defects

Question 17

mental retardation, micrognathia, short necks, low set ears, rocker bottom feet, overlapping fingers, prominent occiput, typically die at 18 months

Answer 17

Edwards’s syndrome

Trisomy 18

Question 18

Mental retardation, microcephaly, polydactyly, cleft lip, rocker-bottom feet, umbilical hernia

Answer 18

Patau syndrome

Trisomy 13

Question 19

Congenital heart defects, palata defects, facial dysmorphism, developmental delay, immunodeficiency, hypocalcemia

Answer 19

Chr 22q11.2 deletion syndrome
DiGeorge syndrome > CATCH 22, Cardiac abnormality, Abnormal face, Thymic hypoplasia, Cleft palate, Hypocalcemia/ hypoparathyroidism

Velocardiofacial syndrome > facial dysmorphism, cleft palate, cardiovascular anomalies, learning disabilities

Question 20

47, XXY

male hypogonadism, long legs, gynecomastia, low IQ, increased risk of DM type 2, breast cancer, mitral valve prolapse

Answer 20

Klinefelter syndrome

Question 21

45, X

hypogonadism, short, broad chest, webbing of neck, amenorrhea, lack of secondary sex characteristics, streak ovaries

Answer 21

Turner syndrome

Question 22

long face, large everted ears, mental retardation, high arched palate, enlarged testicles, mitral valve prolapse
becomes worse with each generation

Answer 22

Fragile-X Syndrome
X-linked recessive
Trinucelotide repeat mutation in FMR1

Question 23

progressive dementia, jerky movements,

Answer 23

Huntington disease
AD
trinucleotide repeat mutation
mutation of Huntingtin on 4p16.3

Question 24

progressive bilateral loss of central vision

Answer 24

Leber optic neuropathy

mitochondrial DNA disorder

Question 25

mental retardation, short stature, hypotonia, obesity, small hands/feet, hypogonadism

Answer 25

Prader-Willi syndrome

Paternal deletion on chromosome 15 q11.2q13

Question 26

mental retardation, ataxic gait, siezures, inappropriate laughter, happy puppets

Answer 26

Angelman syndrome

Maternal deletion on chromosome 15 q11.2q13