Rapid Review- Disease & Presentation

Question 1

Lesch-Nyhan Syndrome
(HGPRT Deficiency, X-Linked Recessive

Answer 1

Gout, Intellectual Disability, Self-Mutuilating behavior in a boy

Question 2

Primary Ciliary Dyskinesia or Kartagener Syndrome
(Dynein Arm defect affecting cilia)

Answer 2

Situs Inversus, Chronic Ear Infections, Sinusitis, Bronchiectasis, Infertility

Question 3

Osteogenesis Inperfecta (Type 1 Collagen Defect)

Answer 3

Blue Sclera, Multiple Fractures, Dental Problems, Conductive Hearing loss

Question 4

Ehlers-Danlos Syndrome ( Type V Collagen Defect, Typle III Collagen Defect in Vascular ED)

Answer 4

Elastic Skin, Hypermobility of joints, Increased bleeding tendency

Question 5

Marfan Syndrome (Fibrillin Defect)

Answer 5

Arachnodactyly, Lens dislocations (Upward and Temporal), Aortic Dissection, Hyperflexible joints

Question 6

Homocystinuria (Autosomal Recessive)

Answer 6

Archnodactyly, Pectus Deformity, Lens Dislocation (Downward)

Question 7

McCune-Albright Syndrome (G-protein activating mutation)

Answer 7

Cafe-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

Question 8

Cystic Fibrous (CFTR gene defect, Chromosome 7, F508)

Answer 8

Meconium in neonate, recurrent pulmonary infections, nasal polyps, pancreatic insufficiency, infertility/subfertility

Question 9

Muscular Dystrophy (MC Duchenne, due to X-Linked Recessive Frameshift mutation of dystrophin gene)

Answer 9

Calf pseudohypertrophy

Question 10

Duchenne Muscular Dystrophy (Gower’s Sign)

Answer 10

Child uses arms to stand from squat

Question 11

Becker Muscular Dystrophy (X-Linked Non-Frameshift deletions in dystrophin; less severe than Duchenne)

Answer 11

Slow, progressive muscle weakness in boys

Question 12

Patau Syndrome (Trisomy 13)

Answer 12

Infant w/ cleft palate/lip, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

Question 13

Edwards Syndrome (Trisomy 18)

Answer 13

Infant w/ microcephaly, rocker bottom feet, clenched hands, and structural heart defect

Question 14

Down Syndrome (Trisomy 21)

Answer 14

Single Palmar crease, Intellectual disability

Question 15

Cri-du-chat Syndrome
(Cry of the cat)

Answer 15

Microcephaly, high-pitched cry, clenched hands, intellectual disability

Question 16

Wernicke Encephalopathy
(Add Confabulation/Memory loss for Korsakoff Syndrome)

Answer 16

Confusion, Ophthalmoplegia (eye muscle paralysis)/ Nystagmus, Ataxia

Question 17

Wet Beriberi (Thiamine /Vitamin B1 Deficiency)

Answer 17

Dilated Cardiomyopathy/ High-Output Heart Failure, Edema, Alcoholism or Malnutrition

Question 18

Vitamin B5 Deficiency

Answer 18

Burning Feet Syndrome

Question 19

Pellagra (Niacin Vitamin B3 Deficiency)

Answer 19

Dermatitis, Dementia, Diarrhea

Question 20

Scurvy (Vitamin C Deficiency– Can’t hydroxylate proline/lysine for collagen synthesis)

Answer 20

Swollen gums, Mucosal Bleeding, Poor Wound healing, Petechiae, Corkscrew hairs

Question 21

Rickets (Children), Osteomalacia (Adults)
Vitamin D Deficiency

Answer 21

Bowlegs (Children), Bone pain, and Muscle Weakness

Question 22

Vitamin K Deficiency

Answer 22

Hemorrhagic Disease of Newborn w/
↑ PT, ↑aPTT

Question 23

Phenylketonuria (PKU)

Answer 23

Intellectual Disability, Musty Body Odor, Hypopigmented skin, Eczema

Question 24

Alkaptonuria
(Homogentisate Oxidase Deficiency; Ochronosis)

Answer 24

Bluish Black Connective Tissue, Ear Cartilage, Sclerae; Urine turns Black on prolonged exposure to air

Question 25

Pompe Disease (Lysosomal a-1, 4-glucosidase deficiency)

Answer 25

Myopathy (Infantile hypertrophic cardiomyopathy), Exercise Intolerance

Question 26

Cori Disease (Debranching Enzyme Deficiency) or Von Gierke Disease (Glucose-6-Phosphatase Deficiency, more severe)

Answer 26

Infant w/ Hypoglycemia, Hepatomegaly

Question 27

McArdle Disease (Skeletal Muscle Glycogen Phosphorylase Deficiency)

Answer 27

Chronic Exercise Intolerance w/ Myalgia, Fatigue, Painful Cramps, Myoglobinuria

Question 28

Tay-Sachs Disease (Ganglioside accumulation; no hepatosplenomegaly); Niemann-Pick Disease (Sphingomyelin accumulation; hepatosplenomegaly); Central Retinal Artery Occlusion

Answer 28

Cherry-Red Spots on Macula

Question 29

Gaucher Disease (Glucocerebrosidase (B-glucosidase deficiency)